103: Neonatal Dermatology

Question 1

What is the significance of the epidermis developing as a basal cell layer and a superficial periderm layer at 6 weeks of gestational age?

Answer 1

The periderm does not contribute to the formation of stratified squamous epithelium and is shed during the end of the 2nd trimester, indicating its temporary role in skin development.

Question 2

How does the epidermal barrier function differ between term and preterm neonates?

Answer 2

In term neonates, the epidermal barrier function is fully developed by 2-4 weeks of life, while in preterm neonates, particularly those born before 34 weeks, the barrier function is markedly decreased and may take longer to mature.

Question 3

What are the implications of increased transepidermal water loss (TEWL) in preterm neonates?

Answer 3

Increased TEWL in preterm and low birthweight neonates reflects epidermal barrier immaturity and is associated with a higher risk of infection and sepsis due to skin fragility and potential entry points for pathogens.

Question 4

What changes occur in the thickness of the stratum corneum during the first three months of life?

Answer 4

During the first three months of life, the thickness of the stratum corneum decreases, while epidermal thickness increases, leading to the formation of dermal papillae and epidermal ridges.

Question 5

What role does vernix caseosa play in neonatal skin development?

Answer 5

Vernix caseosa is produced around 36 weeks of gestation and is crucial for epidermal maturation and the formation of the stratum corneum. It has antimicrobial, antioxidant, and barrier functions, contributing to skin protection.

Question 6

What is the neonatal period defined as?

Answer 6

The first 30 days of life.

Question 7

At what gestational age does the epidermis begin to develop?

Answer 7

6 weeks of gestational age.

Question 8

What is the significance of vernix caseosa in neonates?

Answer 8

It is associated with epidermal maturation and has antimicrobial and barrier functions.

Question 9

When does the functional maturation of the stratum corneum begin in preterm infants?

Answer 9

Around 24 weeks of gestation.

Question 10

What happens to the thickness of the stratum corneum in the first 3 months of life?

Answer 10

It decreases, while epidermal thickness increases.

Question 11

What is the effect of TEWL in preterm and low birthweight neonates?

Answer 11

TEWL is significantly increased, reflecting epidermal barrier immaturity.

Question 12

What is the risk associated with the fragile skin of preterm infants?

Answer 12

Increased risk for infection and sepsis due to skin-associated organisms.

Question 13

How does thermal regulation function in premature infants?

Answer 13

It is dysfunctional due to a thin subcutaneous fat layer and poor autonomic control.

Question 14

What is the role of emollient therapy in premature infants?

Answer 14

It improves skin integrity but may increase the risk of systemic candidiasis.

Question 15

What is the typical skin pH in term and preterm neonates compared to older infants?

Answer 15

It is more alkaline in term and preterm neonates.

Question 16

What are the key developmental milestones of the epidermis during the first 6 weeks of gestation in neonates?

Answer 16

• 6 weeks: Epidermis begins to develop as a basal cell layer and a superficial periderm layer.
• 8 weeks: Stratification of fetal epidermis and DEJ evident.
• 11-15 weeks: Terminal differentiation first in skin appendages, then in interfollicular epidermis.
• 15 weeks: Collagen fiber formation and organization of papillary and reticular dermis.
• 22-24 weeks: Epidermis consists of 4-5 cell layers, elastic fibers noted.

Question 17

How does the epidermal barrier function differ between term and preterm neonates, and what are the clinical implications?

Answer 17

• Term Neonates:
  
  • Full barrier function achieved by 2-4 weeks of life.
  • TEWL is equivalent to adults after drying of the skin.
• Preterm Neonates:
  
  • Markedly decreased epidermal barrier function, particularly in those born before 34 weeks.
  • Functional maturation of the stratum corneum begins around 24 weeks, may take longer than 4 weeks in very preterm infants.
• Clinical Implications:
  
  • Increased risk for infection and sepsis due to fragile skin.
  • Higher TEWL rates lead to greater fluid loss and potential for dehydration.

Question 18

What are the risks associated with thermal regulation in premature infants, and how should they be managed?

Answer 18

• Risks:
  
  • Dysfunctional thermal regulation due to thin subcutaneous fat layer.
  • Decreased ability to sweat and poor autonomic control of cutaneous blood vessels.
  • Large surface-area-to-body-mass ratio increases heat loss.
• Management:
  
  1. Place premature infants in a temperature and humidity controlled isolette.
  2. Monitor temperature and fluid regulation until stabilized.
  3. Consider the use of radiant warmers and phototherapy cautiously, as they can increase TEWL.

Question 19

What is the significance of vernix caseosa in neonates, and how does its production correlate with skin development?

Answer 19

• Vernix Caseosa:
  
  • A lipid-rich substance produced by sebaceous glands, beginning around 36 weeks of gestation.
  • Composed of water-containing corneocytes in a lipid matrix, providing antimicrobial and antioxidant properties.
• Significance:
  
  • Plays a crucial role in the maturation of the epidermal barrier and formation of the stratum corneum.
  • Protects the skin from environmental factors and aids in skin hydration.

Question 20

What are the recommendations for routine skin care in neonates?

Answer 20

1. Bathing in water 2 to 3 times per week for no more than 5 to 10 minutes using a gentle soap-free liquid skin cleanser instead of a washcloth.
2. Application of an emollient after bathing.

• An appropriate skin-care regimen minimizes overbathing, maintains the epidermal barrier, and reduces exposure to irritants.
• Less is best to avoid irritation and allergic contact dermatitis.

Question 21

What is the significance of the greater surface-area-to-body-mass ratio in neonates regarding topical substances?

Answer 21

Neonates have an increased risk for systemic toxicity from topically applied substances due to:
- Greater surface-area-to-body-mass ratio compared to adults.
- Preterm neonates have an even greater ratio, increasing the risk of toxicity.
- Differences in metabolism, excretion, and protein binding of substances compared to adults, which can magnify adverse effects, especially in preterm neonates.

Question 22

What are the characteristics and resolution timeline of caput succedaneum?

Answer 22

Caput succedaneum is characterized by:
- Subcutaneous edema over the presenting part of the head due to pressure against the cervix.
- Common occurrence in newborns, soft to palpation with ill-defined borders.
- Petechiae and ecchymosis may also be noted.

Resolution: Typically resolves spontaneously over 7 to 10 days.

Question 23

What are the features of erythema toxicum neonatorum?

Answer 23

Erythema toxicum neonatorum is characterized by:
- Idiopathic, common skin condition seen in up to 75% of term newborns.
- Blotchy erythematous patches 1-3 cm in diameter with a 1-4 mm central vesicle or pustule.
- Eruption usually begins at 24 to 48 hours of age, but can be delayed up to 10 days.
- Benign condition that clears spontaneously by 2 to 3 weeks of age without residua.

Question 24

What is the typical presentation and resolution of milia in newborns?

Answer 24

Milia are:
- 2-mm papules that are benign, superficial epidermal inclusion cysts, usually few in number.
- Most commonly found on the face in newborns.
- Generally resolve spontaneously within a few weeks of life.
- Persistent or numerous milia may be associated with rare genetic disorders.

Question 25

What are the recommendations for routine skin care in neonates?

Answer 25

Bathing in water 2 to 3 times per week for no more than 5 to 10 minutes with a gentle soap-free liquid skin cleanser and application of an emollient after bathing.

Question 26

Why do neonates have an increased risk for systemic toxicity from topically applied substances?

Answer 26

Due to their greater surface-area-to-body-mass ratio and differences in metabolism, excretion, distribution, and protein binding compared to adults.

Question 27

What is caput succedaneum?

Answer 27

Subcutaneous edema over the presenting part of the head due to pressure against the cervix, common in newborns, and resolves spontaneously over 7 to 10 days.

Question 28

What is the difference between caput succedaneum and cephalohematoma?

Answer 28

Caput succedaneum is soft and ill-defined, while cephalohematoma is a firm collection of blood that respects suture lines and may be associated with skull fractures.

Question 29

What is milia in newborns?

Answer 29

Benign, superficial epidermal inclusion cysts, usually few in number, most commonly found on the face, and generally resolve spontaneously within a few weeks of life.

Question 30

What is sebaceous gland hyperplasia?

Answer 30

A condition where at least 50% of normal newborns have minute yellow macules or papules at the opening of pilosebaceous follicles, resolving spontaneously by 4 to 6 months of age.

Question 31

What is erythema toxicum neonatorum?

Answer 31

An idiopathic, common skin condition seen in up to 75% of term newborns, characterized by blotchy erythematous patches with central vesicles or pustules, usually resolving by 2 to 3 weeks of age.

Question 32

What are the key recommendations for routine skin care in neonates to minimize the risk of systemic toxicity from topically applied substances?

Answer 32

1. Bathing: Limit to 2-3 times per week for no more than 5-10 minutes using a gentle soap-free liquid cleanser.
2. Emollient Application: Apply an emollient after bathing to maintain the epidermal barrier.
3. Minimize Overbathing: Avoid overbathing to reduce exposure to irritants and allergens.
4. Less is Best: Use fewer products to decrease the risk of irritation and allergic contact dermatitis.
5. Consider Surface Area: Recognize that neonates have a greater surface area-to-body mass ratio, increasing the risk of systemic toxicity from topical substances.

Question 33

How does the risk of systemic toxicity from topical medications differ between term and preterm neonates?

Answer 33

• Preterm Neonates: Have an even greater surface area-to-body mass ratio than term neonates, leading to a higher risk of systemic toxicity from topical medications.
• Metabolism and Excretion: The metabolism, excretion, distribution, and protein binding of substances can differ significantly in neonates compared to adults, increasing the risk of adverse effects, especially in preterm infants.

Question 34

What are the distinguishing features of caput succedaneum and cephalohematoma in neonates?

Answer 34

Condition | Characteristics | Resolution Time |
|——————-|——————————————————————————–|————————-|
| Caput Succedaneum | - Subcutaneous edema over the presenting part of the head
- Soft to palpation with ill-defined borders
- Petechiae and ecchymosis may be noted | Resolves spontaneously over 7 to 10 days |
| Cephalohematoma | - Collection of blood between the skull and periosteum, respects suture lines
- Firm to palpation, usually unilateral
- Associated with birth trauma or vacuum extraction | Usually resolves without sequelae over several weeks, but calcification may occur |

Question 35

What is erythema toxicum neonatorum and how does it typically present in newborns?

Answer 35

• Erythema Toxicum Neonatorum: An idiopathic skin condition seen in up to 75% of term newborns.
• Presentation: Characterized by blotchy erythematous patches 1-3 cm in diameter with a 1-4 mm central vesicle or pustule.
• Onset: Eruption usually begins at 24 to 48 hours of age, but can be delayed up to 10 days.
• Location: Lesions can be located anywhere but tend to spare the palms and soles.
• Resolution: Clears spontaneously by 2 to 3 weeks of age without residua.

Question 36

What is Transient Neonatal Pustular Melanosis and how does it present?

Answer 36

Transient Neonatal Pustular Melanosis is an idiopathic pustular eruption in newborns characterized by multiple superficial vesicles and pustules, often with ruptured lesions that appear as collarettes of scale. It is more common in newborns with darkly pigmented skin and can present at birth or as late as 3 weeks of age. Hyperpigmented macules may develop at the sites of resolving pustules and usually resolve within 5 to 7 days.

Question 37

What are the characteristics and causes of Miliaria Rubra and Crystallina?

Answer 37

Miliaria, or ‘heat rash’, is a common disorder of the eccrine glands resulting from fever or overheating, especially when neonates are swaddled. Miliaria crystallina presents as minute superficial subcorneal vesicles, while Miliaria rubra involves deeper occlusion with inflammation, manifesting as 1-3 mm erythematous papules or papulopustules. Both conditions resolve spontaneously once the inciting factors are addressed.

Question 38

What is mottling in neonates and how does it resolve?

Answer 38

Mottling is a blotchy or lace-like pattern of dusky erythema over the extremities and trunk of neonates, occurring with exposure to cold environments. It is a common physiological response due to immature autonomic control of the cutaneous vascular plexus and typically resolves spontaneously within 6 months of age upon rewarming.

Question 39

What is Harlequin Color Change and what does it indicate?

Answer 39

Harlequin Color Change is a rare vascular phenomenon in full-term newborns, characterized by an erythematous flush on one side of the body when placed in a lateral position, with the upper half becoming pale. This condition usually subsides within seconds but may persist for up to 20 minutes. It is thought to be due to immaturity of autonomic vasomotor control and is seldom seen after 10 days of age.

Question 40

What are sucking blisters and how do they develop in neonates?

Answer 40

Sucking blisters are solitary, intact, oval or linear blisters that may be present at birth or develop during the first weeks of life due to intrauterine sucking. They typically arise on noninflamed skin on the forearms, wrists, or fingers and resolve within a few days. If the affected extremity is brought to the infant’s mouth, it often confirms the diagnosis as the infant will commence sucking at the site.

Question 41

What is Benign Neonatal Cephalic Pustulosis and how does it differ from true infantile acne?

Answer 41

Benign Neonatal Cephalic Pustulosis is characterized by acneiform facial eruptions that develop within the first 30 days of life, affecting about 50% of newborns. It is attributed to overgrowth of Malassezia spp. and usually resolves spontaneously. True infantile acne is less common, distinguished by later onset and the presence of comedones, acneiform cysts, and scars.

Question 42

What are the implications of birthmarks in newborns?

Answer 42

Birthmarks are common in newborns and can range from benign conditions like nevus simplex to more concerning conditions such as large segmental hemangiomas. While most birthmarks have.

Question 43

What is characterized by acneiform facial eruptions in newborns?

Answer 43

It is characterized by acneiform facial eruptions that develop within the first 30 days of life, affecting about 50% of newborns. It is attributed to overgrowth of Malassezia spp. and usually resolves spontaneously.

Question 44

What distinguishes true infantile acne from other conditions?

Answer 44

True infantile acne is less common, distinguished by later onset and the presence of comedones, acneiform cysts, and scars.

Question 45

What are the implications of birthmarks in newborns?

Answer 45

Birthmarks are common in newborns and can range from benign conditions like nevus simplex to more concerning conditions such as large segmental hemangiomas. While most birthmarks have little medical or psychosocial consequence, the social and cultural impact of a disfiguring birthmark on both the patient and the parents should not be underestimated.

Question 46

What is Transient Neonatal Pustular Melanosis characterized by?

Answer 46

Multiple superficial vesicles and pustules with ruptured lesions evident as collarettes of scale.

Question 47

What causes Miliaria Rubra in neonates?

Answer 47

It results from eccrine gland occlusion due to fever or overheating.

Question 48

What is the typical appearance of mottling in neonates?

Answer 48

A blotchy or lace-like pattern of dusky erythema over the extremities and trunk.

Question 49

What is Harlequin Color Change in newborns?

Answer 49

A rare vascular phenomenon where an erythematous flush develops on one side of the body when placed on that side.

Question 50

What are sucking blisters and when do they typically appear?

Answer 50

Solitary, intact blisters that may be present at birth or during the first weeks of life due to intrauterine sucking.

Question 51

What is the common outcome for Benign Neonatal Cephalic Pustulosis?

Answer 51

Most cases resolve spontaneously within the first 30 days of life.

Question 52

What are the characteristics and clinical significance of Transient Neonatal Pustular Melanosis in newborns?

Answer 52

• Idiopathic pustular eruption that resolves with hyperpigmented macules.
• Less common than erythema toxicum neonatorum, more prevalent in newborns with darkly pigmented skin.
• Usually present at birth or shortly thereafter, may appear as late as 3 weeks of age.
• Characterized by multiple superficial vesicles and pustules with ruptured lesions evident as collarettes of scale.
• Commonly found on the forehead and mandibular area, but can occur anywhere, including palms and soles.
• Smear of vesicle contents shows predominance of neutrophils with occasional eosinophils.
• Pustules usually disappear within 5 to 7 days; residual pigmented macules resolve over several weeks.

Question 53

How does Miliaria Rubra differ from Miliaria Crystallina?

Answer 53

Condition | Presentation | Underlying Cause |
|————————|—————————————————————————–|———————————————————————————-|
| Miliaria Crystallina | Minute superficial subcorneal vesicles, often clear. | Eccrine gland occlusion due to sweat and polysaccharides from Staphylococcus epidermidis. |
| Miliaria Rubra | 1-3 mm erythematous papules and/or papulopustules with inflammation. | Deeper level of occlusion within the epidermis leading to inflammation.
- Both conditions resolve spontaneously once inciting factors are addressed.

Question 54

What is the clinical significance of mottling in neonates?

Answer 54

• Mottling is a blotchy or lace-like pattern of dusky erythema over extremities and trunk, common in neonates due to immature autonomic control of the cutaneous vascular plexus.
• Physiologic mottling resolves spontaneously by 6 months of age and disappears on rewarming.

Question 55

What are the key features of Harlequin Color Change in newborns?

Answer 55

• Harlequin Color Change is a rare vascular phenomenon observed in full-term newborns, low-birthweight, and premature infants.
• Characterized by an erythematous flush on the dependent side when the infant is placed on one side, with the upper half becoming pale.
• Usually subsides within a few seconds but may persist for up to 20 minutes.
• Indicates immaturity of autonomic vasomotor control; if persistent after 10 days of age, it may suggest an underlying neurologic disorder.

Question 56

What are the distinguishing features of Benign Neonatal Cephalic Pustulosis compared to true infantile acne?

Answer 56

Feature | Benign Neonatal Cephalic Pustulosis | True Infantile Acne |
|——————————-|——————————————————–|————————————————–|
| Onset | Within the first 30 days of life. | Later age of onset. |
| Prevalence | Affects 50% of newborns. | Less common. |
| Characteristics | Eruptions attributed to Malassezia spp. | Presence of comedones, acneiform cysts, and scars. |
| Resolution | Most resolve spontaneously; can be treated topically. | May require more extensive treatment.

Question 57

What are dermal melanocytosis commonly known as?

Answer 57

Dermal melanocytosis are commonly known as ‘Mongolian spots’ and are typically located on the lumbo-sacral or buttock skin of infants.

Question 58

What is the significance of multiple café-au-lait macules in infants?

Answer 58

Multiple café-au-lait macules raise the possibility of neurofibromatosis type 1, which is progressive and cannot be excluded based on a neonatal examination with only one or a few macules present.

Question 59

How are congenital melanocytic nevi classified based on size?

Answer 59

Size | Classification |
|——–|—————-|
| Small | <1.5 cm |
| Medium | 1.5 - 10 cm |
| Large | 10 - 30 cm |
| Giant | >30 cm |

Question 60

What is pigmentary mosaicism and how does it manifest on the body?

Answer 60

Pigmentary mosaicism, or patterned dyschromatosis, is characterized by areas of skin hypopigmentation or hyperpigmentation determined by genetic mutations in skin cell progenitors. It tends not to cross the midline of the body and may appear in curvilinear patterns along Blaschko lines or as checkerboard, phylloid, or patchy patterns.

Question 61

What is nevus depigmentosus and when might it become more visible?

Answer 61

Nevus depigmentosus is a well-demarcated hypopigmented patch present from birth that may become more visible in the first year of life as the background skin pigmentation of the newborn gradually increases.

Question 62

What is the primary characteristic of nevus anemicus?

Answer 62

Nevus anemicus is characterized by a hypopigmented patch that results from focal vasoconstriction and is attributed to skin vessel hypersensitivity to catecholamines.

Question 63

What are the common locations for nevus simplex?

Answer 63

Nevus simplex, colloquially known as ‘salmon patch,’ ‘stork bite,’ or ‘angel kiss,’ is most commonly found on the glabella, upper eyelids, and nuchal area.

Question 64

What distinguishes infantile hemangiomas from other vascular anomalies?

Answer 64

Infantile hemangiomas are the most common tumors of infancy and must be differentiated from vascular malformations and other vascular anomalies.

Question 65

What are Mongolian spots commonly known as?

Answer 65

Dermal melanocytosis.

Question 66

Where are café-au-lait macules typically located?

Answer 66

They are well-demarcated tan macules or patches, commonly found on the skin.

Question 67

What is the significance of multiple café-au-lait macules?

Answer 67

They raise the possibility of neurofibromatosis type 1.

Question 68

What is a classic congenital melanocytic nevus?

Answer 68

A melanocytic nevus present at birth or appearing within the first few months of life.

Question 69

What is pigmentary mosaicism?

Answer 69

Areas of skin hypopigmentation or hyperpigmentation determined by genetic mutations in skin cell progenitors.

Question 70

What is nevus depigmentosus?

Answer 70

A well-demarcated hypopigmented patch present from birth that may become more visible as the newborn’s skin pigmentation increases.

Question 71

What is nevus anemicus?

Answer 71

A hypopigmented patch resulting from focal vasoconstriction and skin vessel hypersensitivity to catecholamines.

Question 72

What is the most common type of vascular birthmark in infants?

Answer 72

Nevus simplex, also known as a salmon patch, stork bite, or angel kiss.

Question 73

What are infantile hemangiomas?

Answer 73

The most common tumors of infancy that must be differentiated from vascular malformations and other vascular anomalies.

Question 74

What are vascular malformations?

Answer 74

A heterogeneous group of vascular dysplasias that encompass slow-flow malformations such as capillary, venous, and lymphatic.

Question 75

What are the clinical implications of multiple café-au-lait macules in a neonate?

Answer 75

Multiple café-au-lait macules raise the possibility of neurofibromatosis type 1. It is important to note that findings of NF type 1 are progressive, and a potential diagnosis cannot be excluded based solely on the presence of one or a few café-au-lait macules in a neonatal examination.

Question 76

How does the presence of large congenital melanocytic nevi (CMN) affect the risk of melanoma in infants?

Answer 76

Large and giant congenital melanocytic nevi (CMN) are associated with an increased risk of melanoma. This risk is particularly significant if the CMN has a posterior axial location or if there are more than 20 satellite nevi present. Newborns with more than 2 medium-sized CMN are also at increased risk of neurocutaneous melanocytosis.

Question 77

What is the significance of nevus depigmentosus in a newborn?

Answer 77

Nevus depigmentosus is a well-demarcated hypopigmented patch present from birth that may become more visible as the newborn’s skin pigmentation increases. The presence of three or more nevus depigmentosus/hypomelanotic patches should prompt evaluation for possible tuberous sclerosis complex.

Question 78

What differentiates nevus anemicus from nevus depigmentosus during a clinical examination?

Answer 78

Nevus anemicus is characterized by a hypopigmented patch resulting from focal vasoconstriction and will blanch when pressure is applied with a glass slide (diascopy). In contrast, the border of a nevus depigmentosus remains crisp despite diascopy, making this a key differentiating factor during examination.

Question 79

What are the characteristics and common locations of nevus simplex in neonates?

Answer 79

Nevus simplex, also known as a ‘salmon patch’, ‘stork bite’, or ‘angel kiss’, represents a superficial vascular ectasia of the capillaries. It is most commonly found on the glabella, upper eyelids, and nuchal area. These marks appear frequently in all races, with a majority fading over the first 2 years of life, although those on the occipital scalp tend to persist.

Question 80

What is a nevus sebaceous and what are its potential complications?

Answer 80

A nevus sebaceous is a benign skin hamartoma comprised of numerous sebaceous glands, typically appearing as a yellow-hued hairless plaque on the head of newborns. Potential complications include:
- Development of secondary benign neoplasms such as trichoblastoma or syringocystadenoma papilliferum.
- Rarely, basal cell carcinoma (BCC) may arise within a nevus sebaceous.
- Widespread nevus sebaceous may be associated with increased risk of abnormalities in the central nervous system, eye, or skeletal systems (Schimmelpenning syndrome).

Question 81

What are the characteristics and treatment options for epidermal nevus?

Answer 81

Epidermal nevus is characterized by curvilinear arrays of tan-brown hyperkeratotic papules and/or thin, elongated rough plaques that follow the lines of Blaschko. Treatment options include:
- Surgical excision, which can result in large scars and restrict range of motion in some locations.
- Laser treatment and local dermal shave excision, though these carry a high recurrence risk.
- Infants with widespread epidermal nevi should be evaluated for associated diseases of the central nervous, ocular, and skeletal systems.

Question 82

What are the implications of midline facial lesions in neonates?

Answer 82

Midline facial lesions, such as dermoid cysts, can be markers of cranial dysraphism. They may indicate:
- Possible associated malformations, which are important for diagnosis and management.
- The need for radiologic evaluation to rule out intracranial connections before a skin biopsy.
- High-risk lumbosacral anomalies may also be present, necessitating further investigation.

Question 83

What is the significance of a human tail in neonates?

Answer 83

A human tail is a rare developmental anomaly that may be composed of vestigial appendages including adipose tissue, blood vessels, muscle fibers, and nerves. Its presence may indicate other underlying developmental issues and warrants further evaluation.

Question 84

What are the characteristics of meningocele and myelomeningocele?

Answer 84

Meningocele involves the herniation of meninges and cerebrospinal fluid through a defect in the calvarium or vertebrae, often associated with a persistent intracranial defect. Myelomeningocele includes neural tissue of the spinal cord and is the most common presentation of spina bifida. Preoperative imaging is recommended for both conditions prior to surgical excision and reconstruction.

Question 85

What is a nevus sebaceous and where is it commonly found?

Answer 85

A benign skin hamartoma comprised of numerous sebaceous glands, commonly found as a yellow-hued hairless plaque on the head of newborns.

Question 86

What are the potential complications associated with widespread nevus sebaceous?

Answer 86

Increased risk of abnormalities in the central nervous system, eye, or skeletal systems (Schimmelpenning or nevus sebaceus syndrome).

Question 87

What is the appearance of an epidermal nevus?

Answer 87

Curvilinear arrays of tan-brown hyperkeratotic papules and/or thin, elongated rough plaques that follow the lines of Blaschko.

Question 88

What is the significance of minor congenital anomalies in newborns?

Answer 88

Single minor congenital anomalies occur in approximately 15% of newborns and usually have no functional significance, but 3 or more may warrant a complete physical examination to rule out other congenital abnormalities.

Question 89

What are dermoid cysts and where do they typically arise?

Answer 89

Dermoid cysts typically arise along planes of embryonic fusion of the face and scalp and may adhere to the underlying periosteum.

Question 90

What is a nasal glioma composed of?

Answer 90

A nasal glioma is composed of heterotopic neural tissue and may distort central facial structures.

Question 91

What is the difference between meningocele and myelomeningocele?

Answer 91

Meningocele involves the herniation of meninges and cerebrospinal fluid, while myelomeningocele includes neural tissue of the spinal cord and is the most common presentation of spina bifida.

Question 92

What are human tails and what do they consist of?

Answer 92

Human tails are vestigial appendages that may be composed of adipose tissue, blood vessels, muscle fibers, and nerves.

Question 93

What are the clinical implications of widespread nevus sebaceous in neonates?

Answer 93

Widespread nevus sebaceous may be associated with increased risk of abnormalities in the central nervous system, eye, or skeletal systems, known as Schimmelpenning or nevus sebaceus syndrome. Monitoring or excision may be necessary if symptomatic or causing disfigurement.

Question 94

How should a neonate with a midline facial lesion be evaluated for potential associated anomalies?

Answer 94

A neonate with a midline facial lesion, such as a dermoid cyst, should undergo a thorough evaluation.

Question 95

What are the clinical implications of widespread nevus sebaceous in neonates?

Answer 95

Widespread nevus sebaceous may be associated with increased risk of abnormalities in the central nervous system, eye, or skeletal systems, known as Schimmelpenning or nevus sebaceus syndrome. Monitoring or excision may be necessary if symptomatic or causing disfigurement.

Question 96

How should a neonate with a midline facial lesion be evaluated for potential associated anomalies?

Answer 96

A neonate with a midline facial lesion, such as a dermoid cyst, should undergo a thorough evaluation for associated cranial dysraphism. This includes:

1. Radiologic evaluation to rule out intracranial connections before any skin biopsy.
2. Assessment for additional congenital anomalies, especially if there are multiple minor anomalies present.
3. Consultation with a neurosurgeon if there are signs of associated intracranial or spinal anomalies.

Question 97

What is the significance of a sacral dimple in a neonate, and when should imaging be considered?

Answer 97

A sacral dimple can indicate potential occult spinal dysraphism. Imaging should be considered in the following cases:

• Intermediate risk: Atypical sacral dimple (≥5 mm diameter or location ≥2.5 cm from the anus), aplasia cutis congenita, overlying hamartoma, or deviated gluteal cleft.
• Low-risk lesions that do not require imaging include small focal infantile hemangiomas or simple sacral dimples with a visible base (≤5 mm diameter and location ≤2.5 cm from the anus).

Question 98

What are the recommended management steps for a nasal glioma in a neonate?

Answer 98

Management of a nasal glioma includes:

1. Referral to neurosurgery for surgical excision due to the potential for distortion of central facial structures.
2. Preoperative imaging to assess the extent of the lesion and any associated anomalies.
3. Monitoring for complications related to the presence of heterotopic neural tissue.

Question 99

What are the key considerations for surgical excision of dermoid cysts in neonates?

Answer 99

Key considerations for surgical excision of dermoid cysts include:

1. Assessment of attachment to underlying structures, as they may adhere to the periosteum.
2. Preoperative MRI to evaluate for deeper extension, especially for nasal dermoid cysts that may have a risk of intracranial extension.
3. Timing of surgery to prevent complications and ensure proper management of any associated anomalies.

Question 100

What are pseudotails and how do they differ from true human tails?

Answer 100

Pseudotails resemble true human tails but are not related to the embryonic human tail. Examples include sacrococcygeal teratomas and myelomeningoceles. True human tails, but not pseudotails, are associated with spinal dysraphism, and MRI is recommended.

Question 101

What is hypertrichosis and its association with spinal dysraphism?

Answer 101

Hypertrichosis refers to localized hypertrichosis overlying the lumbosacral, cervical, or thoracic spine, which may be associated with spinal dysraphism, particularly when prominent, known as a ‘faun tail’.

Question 102

What are the characteristics and treatment of branchial cleft anomalies?

Answer 102

Branchial cleft anomalies include branchial cysts, clefts, and sinuses, which are common developmental remnants involving the neck. They present as a mass, draining sinus, or recurrent infection. The definitive treatment is surgical excision.

Question 103

What is a thyroglossal duct cyst and its treatment?

Answer 103

A thyroglossal duct cyst is a congenital neck anomaly presenting as a midline mass from the suprasternal notch to the posterior tongue. It arises from the developmental remnant of the migrational tract of the thyroid gland. The definitive treatment is surgical excision, and preoperative verification of a normal thyroid gland is mandatory.

Question 104

What are urachal cysts and their surgical implications?

Answer 104

Urachal cysts are developmental anomalies of the umbilical cord resulting from failure of regression of the urachus. They usually present with persistent drainage from the umbilicus or an umbilical mass. Surgical repair is indicated, and umbilical granulomas may require silver nitrate chemical cautery.

Question 105

What is aplasia cutis congenita and its common presentation?

Answer 105

Aplasia cutis congenita is characterized by localized areas of absence of skin and sometimes underlying subcutaneous tissues and bone, most often noted on the scalp. It may be solitary or multiple, and the lesions are always hairless.

Question 106

What are the signs of infections in neonates and the initial management approach?

Answer 106

Signs of infections in neonates include subtle clues like decreased body temperature, poor feeding, and poor muscular tone. Initial management involves ‘ruling out sepsis’ with blood, cerebrospinal fluid, and urine cultures, and starting IV antibiotic therapy while awaiting results.

Question 107

What are the potential signs of congenital viral infection in neonates?

Answer 107

Signs of congenital viral infection may include petechiae, purpura, jaundice, hepatomegaly, splenomegaly, microcephaly, encephalopathy, ocular abnormalities, anemia, and thrombocytopenia, especially if they arise with ‘blueberry muffin’ violaceous to purpuric nodules.

Question 108

What is the risk associated with untreated neonatal herpes simplex virus infection?

Answer 108

Untreated neonatal herpes simplex virus (HSV) infection has a 50% mortality rate, with 75% of survivors suffering neurologic sequelae. The greatest risk occurs during vaginal delivery if the mother has active, primary genital herpes.

Question 109

What is the significance of the hair collar sign in neonates?

Answer 109

The hair collar sign is a marker of cranial dysraphism. The next step is a careful examination of the infant and cranial imaging to rule out intracranial connections.

Question 110

What are the clinical implications of localized hypertrichosis overlying the lumbosacral region in neonates?

Answer 110

Localized hypertrichosis in the lumbosacral region may indicate spinal dysraphism, particularly when prominent (known as ‘faun tail’). This condition necessitates further evaluation, including MRI, to assess for underlying spinal anomalies.

Question 111

How should a thyroglossal duct cyst be managed in neonates, and what is the importance of preoperative verification?

Answer 111

A thyroglossal duct cyst should be managed with surgical excision. Preoperative verification of a normal thyroid gland is crucial to avoid complications associated with ectopic thyroid tissue.

Question 112

What are the key features and management strategies for aplasia cutis congenita in neonates?

Answer 112

Aplasia cutis congenita is characterized by localized absence of skin, often on the scalp, and may present as sharply marginated atrophic macules. Management includes:

1. Local wound care to promote healing.
2. Surgical revision may be considered later for cosmetic improvement.
3. Monitoring for associated anomalies, especially if the hair collar sign is present, indicating potential cranial dysraphism.

Question 113

What are the signs that may indicate a neonatal infection, and what initial steps should be taken?

Answer 113

Signs of potential neonatal infection include:
- Decrease in body temperature
- Poor feeding
- Poor muscular tone
- Other nonspecific signs

Initial steps include:
1. Rule out sepsis by obtaining blood, cerebrospinal fluid, and urine cultures.
2. Start IV antibiotic therapy while awaiting culture results.

Question 114

What are the potential consequences of untreated neonatal herpes simplex virus infection?

Answer 114

Untreated neonatal herpes simplex virus (HSV) infection can lead to a 50% mortality rate, with 75% of survivors suffering from significant neurologic sequelae. The greatest risk occurs during vaginal delivery if the mother has active primary genital herpes, as opposed to recurrent herpes where maternal antibodies provide some protection to the neonate.

Question 115

What are the common clinical features of herpes infection in neonates?

Answer 115

Herpes in neonates typically involves the skin, eye, or mouth. Common features include:
- Clusters of vesicles on an erythematous base.
- Vesicles appearing within the first 24 hours of life suggest in utero acquisition of HSV.
- Onset during the first week to 10 days of life is more common due to exposure during delivery.
- A high index of suspicion is necessary even in the absence of maternal infection or history of genital herpes.

Question 116

What are the potential complications associated with erythroderma in neonates?

Answer 116

Erythroderma in neonates can lead to several life-threatening complications, including:
- Sepsis
- Dehydration
- Electrolyte imbalance
It may signal serious underlying conditions such as genetic, infectious, inflammatory, metabolic, or immunologic disorders.

Question 117

What are the risk factors for essential fatty acid deficiency in neonates?

Answer 117

Risk factors for essential fatty acid deficiency in neonates include:
- Malnutrition, which may result from specialized infant formulas.
- Improper infant feeding or fad diets.
- Hyperalimentation.
- Disorders such as cystic fibrosis that result in malabsorption.

Question 118

What is the significance of screening for SCID in neonates?

Answer 118

Screening for Severe Combined Immunodeficiency (SCID) in neonates is significant because:
- It allows for early detection of a heterogeneous group of immunodeficiency disorders characterized by combined T-cell and B-cell dysfunction.
- Early diagnosis can lead to timely interventions, such as bone marrow transplantation, which is crucial before 3 to 4 months of age to prevent severe infections and other complications.

Question 119

What are the clinical features of Omenn syndrome in neonates?

Answer 119

Omenn syndrome, a rare form of SCID, presents with the following clinical features:
- Exfoliative erythroderma
- Failure to thrive
- Chronic diarrhea
- Lymphadenopathy
- Hepatosplenomegaly
The prognosis is poor in the absence of bone marrow transplantation.

Question 120

What is the significance of vesicles appearing during the first 24 hours of life in neonates?

Answer 120

It suggests in utero acquisition of HSV.

Question 121

What is the recommended treatment for suspected neonatal herpes?

Answer 121

IV acyclovir should be instituted as soon as possible after specimens are collected.

Question 122

What does congenital cutaneous candidiasis present with in full-term neonates?

Answer 122

Widespread erythematous macules, papules, and pustules associated with superficial desquamation.

Question 123

What underlying conditions can erythroderma in neonates indicate?

Answer 123

Genetic, infectious, inflammatory, metabolic, and immunologic disorders.

Question 124

What are some inflammatory dermatoses that may present in the first few weeks of life?

Answer 124

Seborrheic dermatitis, infantile psoriasis, juvenile pityriasis rubra pilaris, and atopic or nonatopic eczema.

Question 125

What is the association between inborn errors of metabolism and skin conditions in neonates?

Answer 125

They can present with desquamative dermatitis and other symptoms like lethargy and seizures.

Question 126

What is the prognosis for infants with SCID?

Answer 126

Poor prognosis due to the risk for severe infection, failure to thrive, and other complications.

Question 127

What is Omenn syndrome and its association with SCID?

Answer 127

A rare form of SCID resulting from autosomal recessive mutations, characterized by exfoliative erythroderma and failure to thrive.

Question 128

What are the key features of DiGeorge syndrome?

Answer 128

Thymic aplasia, cardiac anomalies, hypoparathyroidism, cleft palate, and eczematous dermatitis.

Question 129

What are the key clinical features and management considerations for herpes simplex virus (HSV) infection in neonates?

Answer 129

• Key Clinical Features:
  
  • Involves skin, eye, or mouth in most infected neonates.
  • Clusters of vesicles on an erythematous base.
  • Vesicles appearing within the first 24 hours suggest in utero acquisition.
  • Onset during the first week to 10 days is more common due to exposure during delivery.
• Management Considerations:
  
  • High suspicion should be maintained even without maternal infection history.
  • Diagnostic tests include direct fluorescent antibody assay, viral culture, Tzanck smear, and polymerase chain reaction.
  • IV acyclovir should be initiated promptly to minimize CNS replication and systemic dissemination.

Question 130

How does congenital cutaneous candidiasis present in full-term versus preterm neonates, and what are the implications for management?

Answer 130

• Full-term Neonates:
  
  • Presents with widespread erythematous macules, papules, and pustules associated with superficial desquamation.
• Preterm Neonates:
  
  • May present with large, weeping erosions.
• Management Implications:
  
  • Early recognition and treatment are crucial to prevent complications such as secondary infections and to manage skin integrity.

Question 131

What are the potential underlying conditions associated with erythroderma in neonates, and how can they be differentiated?

Answer 131

• Potential Underlying Conditions:
  
  • Genetic disorders (e.g., congenital ichthyosis, Netherton syndrome).
  • Infectious conditions (e.g., seborrheic dermatitis, infantile psoriasis).
  • Inflammatory conditions (e.g., atopic dermatitis).
  • Metabolic and immunologic disorders.
• Differentiation Strategies:
  
  • Assess family history of atopy or psoriasis.
  • Evaluate primary morphology and areas of predilection.
  • Monitor for additional symptoms over time to aid in diagnosis.

Question 132

What are the clinical implications of inborn errors of metabolism presenting as desquamative dermatitis in neonates?

Answer 132

• Clinical Implications:
  
  • Inborn errors such as holocarboxylase synthetase deficiency and biotinidase deficiency can lead to desquamative dermatitis.
  • Symptoms may include lethargy, seizures, and apnea.
  • Early detection through newborn screening is critical to prevent severe complications.
  • Management may involve dietary modifications and supplementation to address deficiencies.

Question 133

What are the key features and prognosis of Omenn syndrome in neonates, and how does it differ from other forms of SCID?

Answer 133

• Key Features of Omenn Syndrome:
  
  • Rare form of SCID due to autosomal recessive mutations in RAG-1 or RAG-2 genes.
  • Characterized by exfoliative erythroderma, failure to thrive, chronic diarrhea, lymphadenopathy, and hepatosplenomegaly.
  • The prognosis is poor in the absence of bone marrow transplantation.

Question 134

What are the symptoms of Omenn syndrome?

Answer 134

Symptoms may include lethargy, seizures, and apnea.

Question 135

Why is early detection important in Omenn syndrome?

Answer 135

Early detection through newborn screening is critical to prevent severe complications.

Question 136

How is Omenn syndrome managed?

Answer 136

Management may involve dietary modifications and supplementation to address deficiencies.

Question 137

What are the key features of Omenn syndrome?

Answer 137

Rare form of SCID due to autosomal recessive mutations in RAG-1 or RAG-2 genes. Characterized by exfoliative erythroderma, failure to thrive, chronic diarrhea, lymphadenopathy, and hepatosplenomegaly.

Question 138

What is the prognosis for Omenn syndrome?

Answer 138

Poor prognosis without bone marrow transplantation. Early intervention is crucial to improve outcomes and manage complications.

Question 139

How does Omenn syndrome differ from other forms of SCID?

Answer 139

Omenn syndrome presents with more pronounced skin manifestations and systemic symptoms compared to other SCID types.

Question 140

What is the most common presentation of seborrheic dermatitis in infants?

Answer 140

The most common presentation is a greasy yellow scale with mild underlying erythema on the scalp, commonly referred to as ‘cradle cap’.

Question 141

What are the clinical features of irritant diaper dermatitis?

Answer 141

Irritant diaper dermatitis is characterized by erythematous, moist, and sometimes scaly patches, favoring the convex surfaces of the genitalia and buttocks, with skin folds classically spared.

Question 142

What are the common allergens associated with allergic contact diaper dermatitis?

Answer 142

Common contact allergens include preservatives, fragrances, rubber additives, and disperse dyes in diapers or baby wipes.

Question 143

What is the treatment for granuloma gluteale infantum?

Answer 143

The treatment includes avoidance of irritants, use of a barrier ointment, and avoidance of topical corticosteroids.

Question 144

What differentiates candidal diaper dermatitis from other types of diaper dermatitis?

Answer 144

Candidal diaper dermatitis is characterized by bright red erythematous moist papules, patches, and plaques, with involvement of body folds and presence of satellite papules.

Question 145

What are the clinical implications of prolonged exposure to moisture in diaper dermatitis?

Answer 145

Prolonged exposure can lead to increased frictional damage, decreased barrier function of the skin, increased reactivity to irritants, and potential for superinfection.

Question 146

What is the pathophysiology hypothesized to cause seborrheic dermatitis?

Answer 146

An exaggerated immune response to skin colonization with Malassezia species.

Question 147

What is the most common cause of diaper dermatitis?

Answer 147

Irritant contact dermatitis (ICD).

Question 148

What is Jacquet erosive dermatitis?

Answer 148

An uncommon, severe diaper dermatitis characterized by well-demarcated, punched-out ulcers and erosions.

Question 149

What is granuloma gluteale infantum?

Answer 149

An uncommon diaper rash with reddish purplish nodules on the convexities of the diaper area in infants.

Question 150

What are pseudoverrucous papules and nodules?

Answer 150

Flat-topped, skin-colored papules in the diaper and perianal areas of patients with chronic moisture exposure.

Question 151

What should be considered in the differential diagnosis of diaper eruptions?

Answer 151

Conditions like infantile seborrheic dermatitis, napkin psoriasis, and Langerhans cell histiocytosis.

Question 152

What is the clinical presentation of seborrheic dermatitis in infants, and how does it differ from infantile psoriasis?

Answer 152

Seborrheic dermatitis presents as greasy yellow scales with mild underlying erythema, particularly on the scalp. In contrast, infantile psoriasis shows more prominent scaling and is often associated with other areas.

Question 153

What are the key factors contributing to irritant diaper dermatitis in infants?

Answer 153

Key factors include prolonged exposure to moisture, contact with urine and feces, fecal proteolytic and lipolytic digestive enzymes, increased skin pH, and possible superinfection with Candida.

Question 154

How does candidal diaper dermatitis differ from irritant diaper dermatitis in terms of clinical features?

Answer 154

Candidal diaper dermatitis is characterized by bright red, erythematous, moist papules, patches, and plaques that often involve body folds. In contrast, irritant diaper dermatitis typically shows erythematous patches favoring convex surfaces.

Question 155

What is the treatment approach for granuloma gluteale infantum in infants?

Answer 155

The treatment includes avoidance of irritants, use of a barrier ointment, and avoidance of topical corticosteroids.

Question 156

What are the differential diagnoses to consider when evaluating diaper dermatitis in infants?

Answer 156

Differential diagnoses include seborrheic dermatitis, candidal diaper dermatitis, irritant contact dermatitis, allergic contact dermatitis, granuloma gluteale infantum, and dermatoses not related to diaper wearing.

Question 157

What are the characteristics and management recommendations for infantile myofibromatosis?

Answer 157

Characteristics include rubbery dermal and subcutaneous nodules, solitary or multiple myofibromas. Management involves clinical observation.

Question 158

What is the typical presentation and treatment for congenital smooth muscle hamartoma?

Answer 158

Presentation includes a solitary irregular dermal plaque on the trunk or proximal extremities. Treatment can be observed or surgically excised if symptomatic.

Question 159

What are the key features of neuroblastoma in infants?

Answer 159

Key features include being the second most common solid tumor of childhood, associated with ‘blueberry muffin’ baby appearance, and skin biopsy showing small, round cells with large atypical nuclei.

Question 160

What are the clinical signs and diagnostic methods for congenital leukemia in newborns?

Answer 160

Clinical signs include ecchymoses, petechiae, and skin nodules. Diagnostic methods include skin biopsy and complete blood counts.

Question 161

What are the characteristics and diagnostic criteria for cutaneous mastocytosis?

Answer 161

Characteristics include a spectrum of mast cell proliferative disorders affecting the skin. Diagnostic criteria often involve clinical diagnosis and skin biopsy.

Question 162

What is infantile myofibromatosis characterized by?

Answer 162

Rubbery dermal and subcutaneous nodules, solitary or multiple myofibromas.

Question 163

What is the main treatment for fibrous hamartoma of infancy?

Answer 163

Excision, as recurrence rates are low.

Question 164

What are the common features of congenital smooth muscle hamartoma?

Answer 164

Benign dermal proliferations of hyperplastic smooth muscle, solitary irregular dermal plaque, and may have associated hypertrichosis.

Question 165

What is the second most common solid tumor of childhood?

Answer 165

Neuroblastoma.

Question 166

What skin findings are associated with congenital leukemia in newborns?

Answer 166

Ecchymoses, petechiae, and skin nodules.

Question 167

What is a common presentation of Langerhans cell histiocytosis in newborns?

Answer 167

Tan- to-pink papulovesicles, nodules, ulcerations, and petechiae.

Question 168

What is cutaneous mastocytosis?

Answer 168

A spectrum of mast cell proliferative disorders that affect the skin, including solitary mastocytoma and urticaria pigmentosa.

Question 169

What is the Darier sign in relation to cutaneous mastocytosis?

Answer 169

Brisk stroking of affected skin results in mast cell degranulation with a wheal and flare reaction.

Question 170

What are the clinical features and management considerations for infantile myofibromatosis?

Answer 170

Clinical features include rubbery dermal and subcutaneous nodules. Management considerations involve observation as myofibromas typically resolve spontaneously.

Question 171

How is congenital smooth muscle hamartoma diagnosed and what are the treatment options?

Answer 171

Diagnosis involves identifying a solitary irregular dermal plaque. Treatment options include observation or surgical excision for symptomatic lesions.

Question 172

What are the key diagnostic features of neuroblastoma in infants?

Answer 172

Key diagnostic features include being the second most common solid tumor of childhood, associated with ‘blueberry muffin’ baby appearance, and skin biopsy showing small, round cells.

Question 173

What are the clinical implications of Langerhans cell histiocytosis in newborns?

Answer 173

Clinical implications include presenting with tan-to-pink papulovesicles, nodules, and potential complications in other organ systems.

Question 174

What are the characteristics and management of cutaneous mastocytosis in infants?

Answer 174

Characteristics include a spectrum of mast cell proliferative disorders. Management involves oral antihistamines and avoiding triggers.

Question 175

What are the main types of Epidermolysis Bullosa (EB) and how are they distinguished?

Answer 175

Types include EB simplex, junctional EB, dystrophic EB, and Kindler syndrome, distinguished by the localization of the cleavage plane within the skin.

Question 176

What is Congenital Ichthyosis and how does it present?

Answer 176

Congenital Ichthyosis is a heterogeneous group of disorders involving abnormal epidermal differentiation, presenting with a collodion membrane or thick, plate-like hyperkeratotic scales.

Question 177

What are the characteristics of Ectodermal Dysplasia in neonates?

Answer 177

Ectodermal Dysplasia is characterized by abnormalities in skin, hair, nails, teeth, and eccrine glands, often diagnosed late.

Question 178

What is Incontinentia Pigmenti and its clinical manifestations?

Answer 178

Incontinentia Pigmenti is an X-linked disorder with cutaneous manifestations, hair, teeth, and nail abnormalities, and ocular anomalies.

Question 179

What is Incontinentia Pigmenti and its clinical manifestations?

Answer 179

Incontinentia Pigmenti is an X-linked disorder classified as a type of ectodermal dysplasia. Its clinical manifestations include cutaneous manifestations such as vesicular eruptions following Blaschko’s lines, abnormalities of hair, teeth, and nails, and ocular anomalies and neurologic abnormalities.

It is more common in females due to prenatal lethality in affected males, but males can present with the condition under certain circumstances.

Question 180

What are the features of Subcutaneous Fat Necrosis of the Newborn?

Answer 180

Subcutaneous Fat Necrosis of the Newborn is characterized by firm, red to purple subcutaneous nodules or plaques on the back, cheeks, buttocks, arms, and thighs. It usually appears within the first 2 weeks of life and resolves spontaneously over several weeks. Skin biopsy shows lobular fat necrosis with needle-shaped clefts in lipocytes and mixed inflammation. Infants are at risk for hypercalcemia and should be monitored.

Question 181

What is Sclerema Neonatorum and its risk factors?

Answer 181

Sclerema Neonatorum is characterized by diffuse skin hardening in a sick, premature newborn. Onset occurs after 24 hours of age. Critically ill premature neonates with sepsis, hypoglycemia, acidosis, or severe metabolic abnormalities are at the highest risk. Skin appears hard and shiny, and biopsy reveals needle-like crystals within lipocytes without associated inflammatory infiltrate.

Question 182

What is Anetoderma of Prematurity and how does it present?

Answer 182

Anetoderma of Prematurity is a specific form of iatrogenic anetoderma seen in premature infants. It presents with round, flat atrophic patches on the chest and abdomen, developing between 6 weeks and 5 months of age. Lesions often occur at sites where adhesive monitoring leads were removed. Avoidance of pressure may help reduce the risk of developing anetoderma.

Question 183

What are the characteristics of Cutis Marmorata Telangiectatica Congenita?

Answer 183

Cutis Marmorata Telangiectatica Congenita is characterized by persistent, reticulated atrophic violaceous vascular patches, sometimes with telangiectasias and ulceration. It is a sporadic condition with an unknown etiology, though theories of vascular malformation are favored. Most frequently affects the lower extremity, but trunk or upper extremity involvement is not uncommon. The majority have a good prognosis, with half demonstrating improvement of the mottled appearance over the first 2 years.

Question 184

What is Epidermolysis Bullosa and how is it classified?

Answer 184

Epidermolysis Bullosa is a mechanobullous disease classified into four main types: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome, based on the localization of the cleavage plane within the skin.

Question 185

What are the characteristics of Congenital Ichthyosis?

Answer 185

Congenital Ichthyosis is a heterogeneous group of inherited disorders involving abnormal epidermal differentiation, often presenting with a collodion membrane and can include severe forms like harlequin ichthyosis.

Question 186

What is Ectodermal Dysplasia and how is it diagnosed?

Answer 186

Ectodermal Dysplasia is characterized by abnormalities in ectodermal structures such as skin, hair, nails, and teeth. Diagnosis is often delayed until features like delayed dentition and alopecia become more pronounced.

Question 187

What is Incontinentia Pigmenti and its genetic basis?

Answer 187

Incontinentia Pigmenti is an X-linked disorder classified as a type of ectodermal dysplasia, caused by mutations in the NEMO gene, leading to cutaneous manifestations and other abnormalities.

Question 188

What are the features of Subcutaneous Fat Necrosis of the Newborn?

Answer 188

Subcutaneous Fat Necrosis presents as firm, red to purple nodules or plaques on the body, usually appearing within the first 2 weeks of life and resolving spontaneously over several weeks.

Question 189

What is Sclerema Neonatorum and its risk factors?

Answer 189

Sclerema Neonatorum is characterized by diffuse skin hardening in sick, premature newborns, particularly those with sepsis, hypoglycemia, or severe metabolic abnormalities.

Question 190

What is Anetoderma of Prematurity and its association with monitoring leads?

Answer 190

Anetoderma of Prematurity is a form of iatrogenic anetoderma seen in premature infants, often associated with adhesive monitoring leads, leading to atrophic patches on the skin.

Question 191

What is Cutis Marmorata Telangiectatica Congenita?

Answer 191

Cutis Marmorata Telangiectatica Congenita is a sporadic condition characterized by persistent, reticulated atrophic violaceous vascular patches, often improving over the first 2 years.

Question 192

What are the key clinical features and prognosis of Epidermolysis Bullosa in neonates?

Answer 192

Epidermolysis Bullosa (EB) is a mechanobullous disease with variable presentation. It has four main types: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome, distinguished by the cleavage plane within the skin. Clinical features include bullous eruptions, and diagnosis involves clinical examination, skin biopsy, and genetic testing. Milder forms have an excellent prognosis, while more severe forms (junctional EB and recessive dystrophic) are associated with significant morbidity and mortality.

Question 193

How does Congenital Ichthyosis present in neonates and what are the associated risks?

Answer 193

Congenital Ichthyosis is a heterogeneous group of inherited disorders characterized by abnormal epidermal differentiation. It may present with a collodion membrane, particularly in autosomal recessive congenital ichthyosis. The most extreme form, harlequin ichthyosis, presents with thick, plate-like hyperkeratotic scales and is associated with respiratory insufficiency, dehydration, metabolic abnormalities, and sepsis.

Question 194

What are the diagnostic challenges and clinical features of Ectodermal Dysplasia in neonates?

Answer 194

Ectodermal Dysplasia (ED) encompasses a group of disorders with abnormalities in ectodermal structures such as skin, hair, nails, and teeth. Diagnosis is often delayed until features like delayed dentition and alopecia become apparent. X-linked hypohidrotic ectodermal dysplasia may be suspected based on characteristic facies and unexplained hyperpyrexia in neonates. Other forms include p63-related syndromes.

Question 195

What are the clinical manifestations and genetic basis of Incontinentia Pigmenti?

Answer 195

Incontinentia Pigmenti is an X-linked disorder classified as a type of ectodermal dysplasia, caused by mutations in the NEMO gene. Clinical manifestations include cutaneous abnormalities, hair, teeth, and nail issues, as well as ocular and neurologic abnormalities. The earliest manifestation is a characteristic Blaschkoid vesicular eruption, and while more common in females, males can present under certain circumstances.

Question 196

What are the characteristics and clinical significance of Subcutaneous Fat Necrosis of the Newborn?

Answer 196

Subcutaneous Fat Necrosis of the Newborn presents as firm, red to purple nodules or plaques on various body parts, usually appearing within the first 2 weeks of life and resolving spontaneously. Skin biopsy shows lobular fat necrosis with inflammation. Infants are at risk for hypercalcemia and should be monitored, especially if they have underlying conditions.

Question 197

What is Sclerema Neonatorum and what are the associated risks in neonates?

Answer 197

Sclerema Neonatorum is characterized by diffuse skin hardening in sick, premature newborns, typically occurring after 24 hours of age. It is exceedingly uncommon with modern neonatal care. Critically ill neonates with sepsis, hypoglycemia, or severe metabolic abnormalities are at the highest risk. Biopsy reveals needle-like crystals within lipocytes, and the etiology is unknown, with high infant mortality rates.

Question 198

What is Anetoderma of Prematurity and how can it be prevented?

Answer 198

Anetoderma of Prematurity is a form of iatrogenic anetoderma seen in premature infants with very low birthweights. It presents as round, flat atrophic patches on the chest and abdomen, developing between 6 weeks and 5 months of age. Prevention strategies include avoiding pressure from adhesive monitoring leads, which can reduce the risk of developing anetoderma.

Question 199

What are the clinical features and prognosis of Cutis Marmorata Telangiectatica Congenita?

Answer 199

Cutis Marmorata Telangiectatica Congenita is characterized by persistent, reticulated atrophic violaceous vascular patches, sometimes with telangiectasias and ulceration. The etiology is unknown, but theories suggest vascular malformation. Diagnosis is made through clinical examination, and while it is sporadic, the majority of cases have a good prognosis, with many showing improvement over the first 2 years.

Question 200

What type of skin lesion is characterized by a central vesicle or pustule?

Answer 200

Candidiasis (Candidal Intertrigo) is characterized by a central vesicle or pustule.

Question 201

What is the appearance of ruptured lesions in certain skin conditions?

Answer 201

Ruptured lesions are evident as collarettes of scale.

Question 202

Which skin condition affects skin folds and convexities?

Answer 202

Langerhans Cell Histiocytosis affects skin folds and convexities.

Question 203

What is the term for the effect where brisk rubbing results in transient piloerection and induration?

Answer 203

The effect is called ‘dermatographism’, seen in ‘urticaria’.

Question 204

What is the significance of diascopy in skin lesions?

Answer 204

Diascopy shows that the borders of the lesion disappear, indicating a blanching effect.

Question 205

What marker indicates cranial dysraphism and necessitates careful examination of the infant?

Answer 205

A marker of cranial dysraphism is the presence of a dermal sinus, which mandates careful examination of the infant.

Question 206

What is characterized by well-demarcated, punched-out ulcers and erosions?

Answer 206

Seborrheic Dermatitis is characterized by well-demarcated, punched-out ulcers and erosions.

Question 207

What is characteristic of a central vesicle or pustule?

Answer 207

It is a defining feature of certain skin conditions.

Question 208

What do ruptured lesions appear as in certain skin conditions?

Answer 208

Collarettes of scale.

Question 209

What condition is highly associated with occult spinal dysraphism?

Answer 209

Certain congenital lumbosacral midline skin lesions.

Question 210

What is the greatest risk associated with neonatal herpes?

Answer 210

Severe complications in newborns.

Question 211

Which areas are affected in conditions with convexities of the genitalia?

Answer 211

Skin folds are spared.

Question 212

What areas are affected in conditions with skin folds and convexities?

Answer 212

Both skin folds and convexities are affected.

Question 213

What is the term for the effect where brisk rubbing results in transient piloerection and induration?

Answer 213

This effect is called ‘piloerection’, seen in certain skin conditions.

Question 214

What does diascopy reveal about lesions?

Answer 214

Borders of the lesion disappear, indicating a blanching effect.

Question 215

What is a marker of cranial dysraphism that mandates careful examination of the infant?

Answer 215

Certain skin lesions on the back or scalp.

Question 216

What skin condition is characterized by a central vesicle or pustule?

Answer 216

Candidiasis (Candidal Intertrigo) is characterized by a central vesicle or pustule.

Question 217

What type of lesions are evident as collarettes of scale?

Answer 217

Psoriasis (Napkin Psoriasis) lesions are evident as collarettes of scale.

Question 218

Which skin condition is highly associated with occult spinal dysraphism?

Answer 218

Atypical sacral dimple (Group 2) is highly associated with occult spinal dysraphism.

Question 219

What condition poses the greatest risk of neonatal herpes?

Answer 219

Candidiasis (Candidal Intertrigo) poses the greatest risk of neonatal herpes.

Question 220

In which condition are the convexities of the genitalia affected while skin folds are spared?

Answer 220

Candidiasis (Candidal Intertrigo) affects the convexities of the genitalia while skin folds are spared.

Question 221

Which skin condition affects skin folds and convexities?

Answer 221

Seborrheic Dermatitis affects skin folds and convexities.

Question 222

What is the term for the transient piloerection and induration caused by brisk rubbing, and in which condition is it seen?

Answer 222

The term is ‘piloerection’, and it is seen in Candidiasis (Candidal Intertrigo).

Question 223

What is the effect of diascopy on lesions?

Answer 223

Diascopy causes the borders of the lesion to disappear, resulting in a blanching effect.

Question 224

What marker indicates cranial dysraphism and mandates careful examination of the infant?

Answer 224

Atypical sacral dimple is a marker of cranial dysraphism and mandates careful examination of the infant.

Question 225

What skin condition is characterized by well-demarcated, punched-out ulcers and erosions?

Answer 225

Psoriasis (Napkin Psoriasis) is characterized by well-demarcated, punched-out ulcers and erosions.