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BASIC Exam Study Guide > Pediatric skin diseases management > Flashcards

Pediatric skin diseases management Flashcards

Plans for evaluation and basic management

1
Q

Name the diagnosis.

  • What is notable about its distribution?
  • Where does it typically occur?
  • What can occur when it involves the digit?
  • How can you treat it?
  • What is the disease course?
A

Lichen striatus

  • Typically asymptomatic 2-4 mm pink or hypopigmented scaly papules in linear/Blachkoid distribution
  • Extremities >> face, trunk, buttocks
  • Nail dystrophy can occur
  • Treat with TCS and TCI
  • Resolves spontaneously within 3-24 months
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2
Q

Name the diagnosis.

  • What is notable about its distribution?
  • Where does it typically occur?
  • What can occur when it involves the digit?
  • How can you treat it?
  • What is the disease course?
A

Lichen striatus

  • Typically asymptomatic 2-4 mm pink or hypopigmented scaly papules in linear/Blachkoid distribution
  • Extremities >> face, trunk, buttocks
  • Nail dystrophy can occur
  • Treat with TCS and TCI
  • Resolves spontaneously within 3-24 months
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3
Q

Name the diagnosis.

  • What is notable about its distribution?
  • Where does it typically occur?
  • What can occur when it involves the digit?
  • How can you treat it?
  • What is the disease course?
A

Lichen striatus

  • Typically asymptomatic 2-4 mm pink or hypopigmented scaly papules in linear/Blachkoid distribution
  • Extremities >> face, trunk, buttocks
  • Nail dystrophy can occur
  • Treat with TCS and TCI
  • Resolves spontaneously within 3-24 months
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4
Q

How would you treat localized (1), widespread (5) and complicated impetigo (1) ?

A
  1. Localized: topical Mupirocin (or retapamulin)
  2. Widespread: oral beta-lactamase resistant PCN (e.g., dicloxacillin, oxacillin, Augmentin) or first generation CSN (e.g., cephalexin or cefazolin) or clindamycin
  3. Complicated: IV ceftriaxone
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5
Q

Name the diagnosis.

A

Impetigo

  • Look for honey-colored crusting
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6
Q

Name the diagnosis.

A

Impetigo

  • Look for honey-colored crusting
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7
Q

Name the diagnosis.

  • What usually occurs first?
  • Where does the rash begin? (2)
  • What happens within 48 hours?
  • What happens for the next 1 week?
A

Staphylococcal scalded skin syndrome

  • Febrile prodrome followed by widespread skin tenderness
  • Eruption begins on face (periorifical radial fissuring) and intertriginous zones
  • Generalizes within 48 hours as wrinkled-appearing skin with flaccid bullae and (+) Nikolsky sign
  • Desquamation for 1 week; heals without scarring.
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8
Q

Name the diagnosis.

  • What usually occurs first?
  • Where does the rash begin? (2)
  • What happens within 48 hours?
  • What happens for the next 1 week?
A

Staphylococcal scalded skin syndrome

  • Febrile prodrome followed by widespread skin tenderness
  • Eruption begins on face (periorifical radial fissuring) and intertriginous zones
  • Generalizes within 48 hours as wrinkled-appearing skin with flaccid bullae and (+) Nikolsky sign
  • Desquamation for 1 week; heals without scarring.
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9
Q

What is the classic clinical course of Staphylococcus scalded skin syndrome (SSSS)?

  • What usually occurs first?
  • Where does the rash begin? (2)
  • What happens within 48 hours?
  • What happens for the next 1 week?
A
  • Presents with febrile prodrome and widespread skin tenderness
  • Skin eruption begins on face with periorificial radial fissuring and intertriginous areas
  • Within 48 hours, the rash generalizes and there is wrinkled-appearing skin with flaccid bullae and (+) Nikolsky sign
  • Desquamation for up to 1 week, then heals without scarring
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10
Q

Which desmoglein is targeted in Staphylococcus scalded skin syndrome?

  • What toxins are involved?
  • What is the histology similar to?
  • The same toxins are involved in what other condition?
A
  • Exfoliatoxins A and B (ETA and ETB) lead to widespread cleavage of Dsg1
  • Leads to subcorneal/intragranular acantholysis
  • Histology therefore resembles pemphigus foliaceus
  • ETA and ETB are the same exfoliatoxins as bullous impetigo, but are disseminated in the bloodstream in SSSS
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11
Q

How do you treat staph scalded skin syndrome?

  • Mild disease? (2)
  • Severe disease?
A
  • Mild disease: Beta-lactamase resistant PCN (dicloxacillin) or 1st generation CSN (cephalexin)
  • Severe disease: Hospitalization and IV antibiotics
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12
Q

How do you treat scabies in infants, adults and the elderly?

What drug should be avoided in infants, young children and pregnant or breastfeeding women?

A
  • Permethrin cream twice 7 days apart
  • Apply permethrin to head/scalp in infants and elderly, but okay to defer this in others
  • Avoid oral ivermectin in infants, young children and pregnant or breastfeeding women
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13
Q

Name the diagnosis.

  • Treatment?
  • What condition is this associated with?
A

Pityriasis alba

  • Hypopigmented macules and patches with slight scale in patients with atopic dermatitis
  • Responds to emollient and low potency TCS
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14
Q

Name the diagnosis.

  • Treatment?
  • What condition is this associated with?
A

Pityriasis alba

  • Form of subclinical dermatitis
  • Poorly marginated, hypopigmented slightly scaly patches
  • Usually responds to emollients and mild steroids
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15
Q

What vitamin deficiency is related to acrodermatitis enteropathica?

A

Zinc

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16
Q

Name the diagnosis.

A

Trichotillomania

  • Refer to psychiatry for cognitive behavioral therapy (CBT)
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17
Q

What is the classic histopathology of acrodermatitis enteropathica?

  • What happens to keratinocytes?
A
  • Cytoplasmic pallor of keratinocytes in upper epidermis with ballooning and reticular degeneration
  • Necrosis of keratinocytes
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18
Q

Name the diagnosis.

  • What areas are involved with rash?
  • What are other symptoms in the “triad”?
A

Acrodermatitis enteropathica

  • Triad of erosive vesiculopustular eczematous lesions involving the diaper area, face (periorificial) and acral areas, along with diarrhea and alopecia
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19
Q

Name the diagnosis.

  • What areas are involved with rash?
  • What are other symptoms in the “triad”?
A

Acrodermatitis enteropathica

  • Triad of erosive vesiculopustular eczematous lesions involving the diaper area, face (periorificial) and acral areas, along with diarrhea and alopecia
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20
Q

Name the diagnosis.

  • What areas are involved with rash?
  • What are other symptoms in the “triad”?
A

Acrodermatitis enteropathica

  • Triad of erosive vesiculopustular eczematous lesions involving the diaper area, face (periorificial) and acral areas, along with diarrhea and alopecia
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21
Q

What are the laboratory abnormalities seen in acrodermatitis enteropathica? (2)

A
  • Decreased serum zinc
  • Decreased serum alkaline phosphatase
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22
Q

What is the treatment for acrodermatitis enteropathica? (1)

A
  • Life-long (in congenital cases) zinc sulfate supplementation leads to fast resolution
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23
Q

What is the gene responsible for primary acrodermatitis enteropathica and what is its function?

  • What does this encode?
A

Mutations in SLC39A4 (encodes intestinal zinc-specific transporter ZIP4)

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24
Q

What amino acid is not absorbed properly in Hartnup disease?

  • What symptoms can this lead to?
  • What CNS problems can occur?
  • What is the treatment for this? What should be avoided?
A

Tryptophan

  • Leads to pellagra-like symptoms (e.g., photosensitivity)
  • Acute photodermatitis with erythema, blistering, scaling, crusting, scarring of sun-exposed areas
  • May develop cerebellar ataxia, seizures, intellectual disability, psychosis
  • Treatment: avoid sunlight and take oral nicotinamide
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25
Q

Name the diagnosis.

  • What is its expected clinical course?
A

Juvenile xanthogranuloma

  • Pink to yellow papule more common on the head/neck of a child
  • Spontaneous resolution in 3-6 years
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26
Q

Name the diagnosis.

  • What is its expected clinical course?
A

Juvenile xanthogranuloma

  • Pink to yellow papule more common on the head/neck of a child
  • Spontaneous resolution in 3-6 years
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27
Q

Name the diagnosis.

  • What is its expected clinical course?
A

Juvenile xanthogranuloma

  • Pink to yellow papule more common on the head/neck of a child
  • Spontaneous resolution in 3-6 years
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28
Q

Name the diagnosis.

  • What are features of a poor prognosis? (2)
  • What might this be mistaken for in infants?
A

Langerhans cell histiocytosis (LCH)

  • Prognosis determined by systemic involvement
  • Features predictive of poor prognosis: BRAF V600E mutation and failure to respond to treatment within 6 weeks
  • In infants, it is classically seen in the diaper area and can be mistaken for a diaper dermatitis
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29
Q

Name the diagnosis.

  • What are features of a poor prognosis? (2)
  • What might this be mistaken for in infants?
A

Langerhans cell histiocytosis

  • Prognosis determined by systemic involvement
  • Features predictive of poor prognosis: BRAF V600E mutation and failure to respond to treatment within 6 weeks
  • In infants, it is classically seen in the diaper area and can be mistaken for a diaper dermatitis
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30
Q

Name the diagnosis.

  • What are features of a poor prognosis? (2)
  • What might this be mistaken for in infants?
A

Langerhans cell histiocytosis

  • Prognosis determined by systemic involvement
  • Features predictive of poor prognosis: BRAF V600E mutation and failure to respond to treatment within 6 weeks
  • In infants, it is classically seen in the diaper area and can be mistaken for a diaper dermatitis
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31
Q

Name the diagnosis.

  • What is the expected clinical course of this?
  • What “sign” is positive?
  • Is dermatographism positive or negative?
  • How do you treat this? (2)
A

Solitary mastocytoma

  • Usually occurs as a single tan/yellow-tan plaque or nodule
  • Most commonly seen on distal extremities
  • Generally self-resolves within 1-3 years
  • Positive Darier’s sign: rub skin of lesion for 10 seconds and becomes red, swollen and/or blisters within 5 minutes
  • Usually dermatographism negative
  • Treat with H1 antagonists (diphenhydramine or cetirizine) and H2 blockers (ranitidine or cimetidine) for GI symptoms
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32
Q

Name the diagnosis.

  • What is the expected clinical course of this?
  • What “sign” is positive?
  • Is dermatographism positive or negative?
  • How do you treat this? (2)
A

Solitary mastocytoma

  • Usually occurs as a single tan/yellow-tan plaque or nodule
  • Most commonly seen on distal extremities
  • Generally self-resolves within 1-3 years
  • Positive Darier’s sign: rub skin of lesion for 10 seconds and becomes red, swollen and/or blisters within 5 minutes
  • Usually dermatographism negative
  • Treat with H1 antagonists (diphenhydramine or cetirizine) and H2 blockers (ranitidine or cimetidine) for GI symptoms
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33
Q

Name the diagnosis.

  • What is the expected clinical course of this?
  • What “sign” is positive?
  • Is dermatographism positive or negative?
  • How do you treat this? (2)
A

Solitary mastocytoma

  • Usually occurs as a single tan/yellow-tan plaque or nodule
  • Most commonly seen on distal extremities
  • Generally self-resolves within 1-3 years
  • Positive Darier’s sign: rub skin of lesion for 10 seconds and becomes red, swollen and/or blisters within 5 minutes
  • Usually dermatographism negative
  • Treat with H1 antagonists (diphenhydramine or cetirizine) and H2 blockers (ranitidine or cimetidine) for GI symptoms
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34
Q

Name the diagnosis.

  • This is the most common presentation of what disorder in children?
  • What are the associated symptoms?
A

Urticaria pigmentosa

  • Most common presentation of cutaneous mastocytosis in children
  • Multiple light brown to red-brown macules and papules which can occur anywhere
  • Starts on trunk, spare palms/soles/face
  • Can have pruritus, flushing, blistering
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35
Q

Name the diagnosis.

  • This is the most common presentation of what disorder in children?
  • What are the associated symptoms?
A

Urticaria pigmentosa

  • Most common presentation of cutaneous mastocytosis in children
  • Multiple light brown to red-brown macules and papules which can occur anywhere
  • Starts on trunk, spare palms/soles/face
  • Can have pruritus, flushing, blistering
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36
Q

Name the diagnosis.

  • This is the most common presentation of what disorder in children?
  • What are the associated symptoms?
A

Urticaria pigmentosa

  • Most common presentation of cutaneous mastocytosis in children
  • Multiple light brown to red-brown macules and papules which can occur anywhere
  • Starts on trunk, spare palms/soles/face
  • Can have pruritus, flushing, blistering
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37
Q

What mutation is found in cutaneous mastocytosis?

  • What does this encode that is essential for what cell type?
A

c-KIT

  • Encodes KIT on mast cells which is essential for mast cell survival
    • D816V activating mutation found in 42% of patients
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38
Q

What are the most common systemic symptoms seen in urticaria pigmentosa? (4)

  • How do systemic symptoms relate to how many lesions are present?
A
  • Diarrhea
  • Abdominal pain
  • Wheezing
  • Dyspnea
  • Patients with more lesions are more likely to have systemic symptoms.
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39
Q

Name the diagnosis.

  • How would you describe these lesions?
  • What systemic effects can occur and why?
A

Diffuse cutaneous mastocytosis

  • Infiltrated, red-brown, leathery plaques with peau d’orange appearance that can involve large areas of the body
  • Skin lesions can blister, leading to erosions
  • Can also have systemic effects (e.g., GI upset, failure to thrive) because of mast cell release
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40
Q

Describe Darier’s sign.

  • What disorders is this present in?
A
  • Local erythema or urticarial wheal after friction or rubbing
  • Present in all forms of mastocytosis
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41
Q

Describe the histology of mastocytosis and what stains would be positive?

  • What occurs in the dermis?
  • What may occur in the basal layer?
A
  • Mast cell infiltrates in the dermis
  • Eosinophils and hyperpigmentation of the basal layer may be present
  • Stains: toluidine blue, Giemsa, Leder, tryptase and CD117 (kit) antibodies
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42
Q

What lab value should you check when evaluating for mastocytosis?

  • What urine study may also be obtained?
A

Tryptase level

  • Serum tryptase may be elevated but is often normal
  • Urinary histamine and metabolites (1,4 methylimidazole acetic acid and N-methylimidazoleacetic acid) may be detectable
43
Q

What are the general treatments for cutaneous mastocytoses?

  • What should be avoided?
  • What medications can be given?
  • What medication could be given in those who have a specific, notable gene rearrangement?
A
  • Avoid mast cell degranulators (e.g., alcohol, anticholinergics, NSAIDs, aspirin, narcotics)
  • H1 and H2 blockers (e.g., diphenhydramine/cetirizine and cimetidine/ranitidine, respectively)
  • Imatinib can be used in those with systemic mastocytosis and the FIP1L1-PDGFRA gene rearrangement
44
Q

Name the diagnosis.

  • What is this derived from?
  • What may be deposited? What special “sign” may be present?
A

Pilomatricoma

  • Hair follicle tumor derived from hair matrix cells
  • Calcification within lesion makes it hard, bony and often angulated in shape (called the “tent” sign)
  • Blue, red or flesh colored
  • Most are less than 1 cm
  • Commonly found on the face, scalp or upper extremities
45
Q

Name the diagnosis.

  • What is this derived from?
  • What may be deposited? What special “sign” may be present?
A

Pilomatricoma

  • Hair follicle tumor derived from hair matrix cells
  • Calcification within lesion makes it hard, bony and often angulated in shape (called the “tent” sign)
  • Blue, red or flesh colored
  • Most are less than 1 cm
  • Commonly found on the face, scalp or upper extremities
46
Q

Name the diagnosis.

  • What is this derived from?
  • What may be deposited? What special “sign” may be present?
A

Pilomatricoma

  • Hair follicle tumor derived from hair matrix cells
  • Calcification within lesion makes it hard, bony and often angulated in shape (called the “tent” sign)
  • Blue, red or flesh colored
  • Most are less than 1 cm
  • Commonly found on the face, scalp or upper extremities
47
Q

Name the diagnosis.

  • What is this derived from?
  • What may be deposited? What special “sign” may be present?
A

Pilomatricoma

  • Hair follicle tumor derived from hair matrix cells
  • Calcification within lesion makes it hard, bony and often angulated in shape (called the “tent” sign)
  • Blue, red or flesh colored
  • Most are less than 1 cm
  • Commonly found on the face, scalp or upper extremities
48
Q

What is the classic histopathology of pilomatricoma?

  • What is the derm path buzz word?
  • What special cells are present?
  • What type of inflammation may occur?
  • What may be deposited?
A
  • Complex cystic proliferation with internal “rolls and scrolls“ appearance
  • Matrical (basaloid) cells with abrupt transition to anucleate “shadow/ghost cells” (eosinophilic)
  • Keratin production leads to granulomatous inflammation and calcification
49
Q

What are the mutations associated with tuberous sclerosis? (2)

  • What is the inheritance pattern?
A

Mutations in hamartin (TSC1) or tuberin (TSC2)

  • Autosomal dominant inheritance
  • Tuberin and hamartin form a complex that inhibits signal transduction of downstream effectors of mTOR
  • Leads to abnormal regulation of cellular differentiation, proliferation, and migration
50
Q

List the five cutaneous findings of tuberous sclerosis.

  • What is the first cutaneous finding?
A
  1. Adenoma sebaceum (facial angiofibromas)
  2. Hypopigmented “ash-leaf” macules (first cutaneous finding; basically inverse cafe au lait macules)
  3. Shagreen patch (connective tissue nevus)
  4. Periungual fibromas (“Koenen tumors”)
  5. Cafe-au-lait macules (CALM)
51
Q

What is the treatment for facial angiofibromas (adenoma sebaceum) in tuberous sclerosis? (4)

  • Think about (1) topical medication, as well as (3) different procedures.
A
  • Topical rapamycin (mTOR inhibitor)
  • PDL
  • Ablative laser
  • Excision
52
Q

What are the neurologic findings in tuberous sclerosis? (5)

  • What is the #1 cause of mortality?
A
  1. Cortical tubers (hamartomas)
  2. Infantile spasms/seizures (#1 cause of mortality)
  3. Paraventricular calcification
  4. Subependymal nodules (may lead to hydrocephalus)
  5. Subependymal giant cell astrocytomas
53
Q

Name the diagnosis.

  • What syndrome does this suggest?
A

Tuberous sclerosis

(Periungual fibromas, a.k.a. “Koenen tumors”)

54
Q

Name the diagnosis.

  • What syndrome does this suggest?
A

Tuberous sclerosis

(Hypopigmented “ash-leaf” macules)

55
Q

Name the diagnosis.

  • What syndrome does this suggest?
A

Tuberous sclerosis

(Facial angiofibromas)

56
Q

What are other findings of tuberous sclerosis of the eyes, heart and kidney? (3)

A
  • Kidney: angiomyolipomas
  • Eye: retinal phakomas (hamartomas)
  • Heart: cardiac rhabdomyomas
57
Q

What is the order by which the cutaneous findings of tuberous sclerosis occurs?

  • What is the first finding that occurs as early as infancy?
  • What before puberty?
  • What happens in adolescence?
A
  • Infancy to early childhood = “ash-leaf” macules
  • Prepubertal = angiofibromas, Shagreen patch
  • Adolescence = ungual fibromas
58
Q

What is the inheritance pattern and genetic mutation of incontinentia pigmenti?

  • In whom is this a lethal mutation?
  • What leads to the Blaschkoid pattern on the skin?
A
  • X-linked dominant
  • Mutation in NEMO prevents activation of NF-κB, which regulates cell proliferation/apoptosis
  • Mutation is lethal in males
  • Functional mosaicism leads to Blaschkoid pattern on skin
59
Q

Name the diagnosis.

A

Incontinentia pigmenti

60
Q

Name the diagnosis.

A

Incontinentia pigmenti

61
Q

Name the diagnosis.

A

Incontinentia pigmenti

62
Q

What are the four distinct morphologic stages of incontinentia pigmenti?

A
63
Q

Name the diagnosis.

  • When is its onset?
  • What different morphologies may be present?
  • What is typically spared?
  • What is the expected clinical course?
A

Erythema toxicum neonatorum

  • Usually presents at 24-48 hours
  • Erythematous macules, papules, pustules and wheals
  • May occur anywhere except palms and soles
  • Self-limited and resolves over several weeks
64
Q

Name the diagnosis.

  • When is its onset?
  • What different morphologies may be present?
  • What is typically spared?
  • What is the expected clinical course?
A

Erythema toxicum neonatorum

  • Usually presents at 24-48 hours
  • Erythematous macules, papules, pustules, and wheals
  • May occur anywhere except palms and soles
  • Self-limited and resolves over several weeks
65
Q

Name the diagnosis.

  • When is its onset?
  • What different morphologies may be present?
  • What is typically spared?
  • What is the expected clinical course?
A

Erythema toxicum neonatorum

  • Usually presents at 24-48 hours
  • Erythematous macules, papules, pustules, and wheals
  • May occur anywhere except palms and soles
  • Self-limited and resolves over several weeks
66
Q

What is included in the mnemonic for HAAPPIE for eosinophilic spongiosis?

A
67
Q

What do you see on histology and Wright’s stain for erythema toxicum neonatorum?

  • What occurs in the epidermis and follicles?
  • What cell type occurs in Wright’s stain of pustule fluid?
A
  • H&E: subcorneal and intrafollicular eosinophilic pustules
  • Wright’s stain of pustule fluid: eosinophils
68
Q

What is the classic histopathology and Wright’s stain of pustule fluid of transient neonatal pustular melanosis?

  • What occurs in the epidermis?
  • What cell type occurs in Wright’s stain of pustule fluid?
A
  • Subcorneal pustules with neutrophils, fibrin and rarely eosinophils
  • Wright’s stain: neutrophils
69
Q

Name the diagnosis.

  • In whom is this most common?
  • What are the three stages of this?
  • When is its onset?
  • What is the expected clinical course?
A

Transient neonatal pustular melanosis

  • Term infants, more common in blacks
  • Three stages:
    • 1. Pustules without underlying erythema
    • 2. Collarettes of scale
    • 3. Hyperpigmented macules
  • ​Present at birth or shortly after
  • Self-limited and resolves over weeks
70
Q

Name the diagnosis.

  • In whom is this most common?
  • What are the three stages of this?
  • When is its onset?
  • What is the expected clinical course?
A

Transient neonatal pustular melanosis

  • Term infants, more common in blacks
  • Three stages:
    • 1. Pustules without underlying erythema
    • 2. Collarettes of scale
    • 3. Hyperpigmented macules
  • ​Present at birth or shortly after
  • Self-limited, resolves over weeks
71
Q

Name the diagnosis.

  • In whom is this most common?
  • What are the three stages of this?
  • When is its onset?
  • What is the expected clinical course?
A

Transient neonatal pustular melanosis

  • Term infants, more common in blacks
  • Three stages:
    • 1. Pustules without underlying erythema
    • 2. Collarettes of scale
    • 3. Hyperpigmented macules
  • ​Present at birth or shortly after
  • Self-limited, resolves over weeks
72
Q

What is the onset of neonatal acne (benign cephalic pustulosis) compared with infantile acne?

A
  • Neonatal acne: 2 weeks old to 3 months old
  • Infantile acne: 3 months to 2 years
73
Q

Describe neonatal cephalic pustulosis.

  • What is it caused by?
  • When is its onset?
  • What is its expected clinical course?
  • How do you treat it?
  • What hormone is it thought to be associated with? What glands are stimulated by it?
A
  • Type of neonatal acne caused by Malassezia
  • Appears within first few weeks of life and resolves by 3 months
  • Treat with ketoconazole cream
  • Can also be related to sebaceous gland stimulation by maternal androgens or transient androgen production
74
Q

Name the diagnosis.

  • What areas are most commonly involved?
A

Nevus simplex (“salmon patch”)

  • Benign transient vascular ectasia of capillary bed
  • Ill-defined pink to light-red blanchable macules on glabella, eyelids and occiput most commonly
  • Most resolve over few months to years
  • If persist, can laser if desired
75
Q

Name the diagnosis.

  • What areas are most commonly involved?
A

Nevus simplex (“salmon patch”)

  • Benign transient vascular ectasia of capillary bed
  • Ill-defined pink to light-red blanchable macules on glabella, eyelids and occiput most commonly
  • Most resolve over few months to years
  • If persist, can laser if desired
76
Q

Name the diagnosis.

  • Is it GLUT-1 negative or positive?
  • What syndromes is it associated with?
  • When is imaging needed?
A

Port-wine stain

  • Present at birth and does not rapidly enlarge
  • GLUT-1 negative
  • Syndromic associations: Maffuci, Klippel-Trenaunay, Sturge-Weber, Blue Rubber Bleb
  • If on the lower back and crossing the midline, then obtain US/MRI to evaluate for tethered cord
77
Q

Name the diagnosis.

  • Is it GLUT-1 negative or positive?
  • What syndromes is it associated with?
  • When is imaging needed?
A

Port-wine stain

  • Present at birth and does not rapidly enlarge
  • GLUT-1 negative
  • Syndromic associations: Maffuci, Klippel-Trenaunay, Sturge-Weber, Blue Rubber Bleb
  • If on the lower back and crossing the midline, then obtain US/MRI to evaluate for tethered cord
78
Q

Name the diagnosis.

  • Is it GLUT-1 negative or positive?
  • What syndromes is it associated with?
  • When is imaging needed?
A

Port-wine stain

  • Present at birth and does not rapidly enlarge
  • GLUT-1 negative
  • Syndromic associations: Maffuci, Klippel-Trenaunay, Sturge-Weber, Blue Rubber Bleb
  • If on the lower back and crossing the midline, then obtain US/MRI to evaluate for tethered cord
79
Q

Name the diagnosis.

  • What is the classic histology of this? How are melanocytes and melanosomes affected?
A

Nevus depigmentosus

  • Hypomelanotic patches that are well demarcated with irregular borders that classically respects the midline and may be segmental
  • Histopathology: normal number of melanocytes with fewer melanosomes in melanocytes and keratinocytes
  • Segmental pigmentation disorder is a variant with a checkerboard pattern of hypopigmentation/hyperpigmentation (see photo)
80
Q

Name the diagnosis.

  • What is the classic histology of this? How are melanocytes and melanosomes affected?
A

Nevus depigmentosus

  • Hypomelanotic patches that are well demarcated with irregular borders that classically respects the midline and may be segmental
  • Histopathology: normal number of melanocytes with fewer melanosomes in melanocytes and keratinocytes
  • Segmental pigmentation disorder is a variant with a checkerboard pattern of hypopigmentation/hyperpigmentation
81
Q

Name the diagnosis.

A

Dermal melanocytosis (formerly known as a Mongolian spot)

  • Slate blue, grey, or black patches
  • Most common over buttocks and sacrum
  • Treatment usually not recommended, but if decided can use Q-switched laser
  • Sacral lesions tend to fade/disappear on their own
82
Q

Name the diagnosis.

A

Dermal melanocytosis (formerly known as Mongolian spot)

  • Slate blue, grey, or black patches
  • Most common over buttocks and sacrum
  • Treatment usually not recommended, but if desided can use Q-switched lasers
  • Sacral lesions tend to fade/disappear on their own
83
Q

Name the diagnosis.

  • Where is this usually found?
A

Nevus of Ito

  • Unilateral dermal melanocytosis that presents as hyperpigmented/blue confluent and/or mottled patch on side of neck and shoulder
84
Q

Name the diagnosis.

  • Where is this usually found?
A

Nevus of Ito

  • Unilateral dermal melanocytosis that presents as hyperpigmented/blue confluent and/or mottled patch on side of neck and shoulder
85
Q

Name the diagnosis.

  • Where is this usually found?
A

Nevus of Ito

  • Unilateral dermal melanocytosis that presents as hyperpigmented/blue confluent and/or mottled patch on side of neck and shoulder
86
Q

Name the diagnosis.

  • What branchial arch was malformed?
A

Accessory tragus

  • Exophytic papule with or without cartilage
  • Can occur anywhere from preauricular region to angle of mouth
  • Faulty formation of first branchial arch
  • Treatment: surgical excision
87
Q

Name the diagnosis.

  • What branchial arch was malformed?
A

Accessory tragus

  • Exophytic papule with/without cartilage
  • Can occur anywhere from preauricular region to angle of mouth
  • Faulty formation of first branchial arch
  • Treatment: surgical excision
88
Q

Name the diagnosis.

  • What nerve dermatome(s) is usually involved?
A

Nevus of Ota

  • Blue or brown confluent or mottled pigmentation of the upper face and periorbital areas (CN V1/ophthalmic and V2/maxillary nerve distribution)
  • Can involve the ocular surface and be bilateral
89
Q

Name the diagnosis.

  • What nerve dermatome(s) is usually involved?
A

Nevus of Ota

  • Blue or brown confluent or mottled pigmentation of the upper face and periorbital areas (CN V1/ophthalmic and V2/maxillary nerve distribution)
  • Can involve the ocular surface and be bilateral
90
Q

Name the diagnosis.

  • What nerve dermatome(s) is usually involved?
A

Nevus of Ota

  • Blue or brown confluent or mottled pigmentation of the upper face and periorbital areas (CN V1/ophthalmic and V2/maxillary nerve distribution)
  • Can involve the ocular surface and be bilateral
91
Q

Describe the histological findings of an epidermal nevus. (2)

  • What happens to the epidermis? Corneum?
A
  • Epidermal papillomatosis
  • Orthohyperkeratosis
92
Q

Name the diagnosis.

  • What kind of proliferation or malformation is this?
  • When is its typical onset?
A

Epidermal nevus

  • Hamartoma of epidermis and papillary dermis with onset in first year of life
  • Papillomatous, pigmented, linear plaques along Blaschko’s lines
  • May be part of an epidermal nevus syndrome that includes other CNS, skeletal and ocular abnormalities
  • CO2 laser has been used but can lead to scarring
93
Q

Name the diagnosis.

  • What kind of proliferation or malformation is this?
  • When is its typical onset?
A

Epidermal nevus

  • Hamartoma of epidermis and papillary dermis with onset in first year of life
  • Papillomatous, pigmented, linear plaques along Blaschko’s lines
  • May be part of an epidermal nevus syndrome that includes other CNS, skeletal and ocular abnormalities
  • CO2 laser has been used but can lead to scarring
94
Q

Name the diagnosis.

  • What kind of proliferation or malformation is this?
  • When is its typical onset?
A

Epidermal nevus

  • Hamartoma of epidermis and papillary dermis with onset in first year of life
  • Papillomatous, pigmented, linear plaques along Blaschko’s lines
  • May be part of an epidermal nevus syndrome that includes other CNS, skeletal and ocular abnormalities
  • CO2 laser has been used but can lead to scarring
95
Q

Name the diagnosis.

  • What kind of proliferation or malformation is this?
  • When is its typical onset?
A

Epidermal nevus

  • Hamartoma of epidermis and papillary dermis with onset in first year of life
  • Papillomatous, pigmented, linear plaques along Blaschko’s lines
  • May be part of an epidermal nevus syndrome that includes other CNS, skeletal and ocular abnormalities
  • CO2 laser has been used but can lead to scarring
96
Q

Name the diagnosis and clinical sign.

  • What special “sign” is present?
  • What does this condition suggest?
A

Aplasia cutis congenita

  • Hair collar sign: congenital ring of dense, dark hair around area of aplasia cutis
  • Suggests cranial dysraphism
97
Q

Name the diagnosis.

  • What is absent?
  • How can this initially present?
  • When this resolves, what can be left behind?
  • What is the most common location?
A

Aplasia cutis congenita

  • Solitary (rarely multiple) round area of localized absense of epidermis, dermis, and sometimes subcutis and calvarium
  • Presents as ulcer, erosion or glistening membrane at birth
  • Resolves leaving alopecic scar
  • 90% on scalp but can be elsewhere
98
Q

Name the diagnosis.

  • What is absent?
  • How can this initially present?
  • When this resolves, what can be left behind?
  • What is the most common location?
A

Aplasia cutis congenita

  • Solitary (rarely multiple) round area of localized absense of epidermis, dermis, and sometimes subcutis and calvarium
  • Presents as ulcer, erosion or glistening membrane at birth
  • Resolves leaving alopecic scar
  • 90% on scalp but can be elsewhere
99
Q

Name the diagnosis.

  • What is absent?
  • How can this initially present?
  • When this resolves, what can be left behind?
  • What is the most common location?
A

Aplasia cutis congenita

  • Solitary (rarely multiple) round area of localized absense of epidermis, dermis, and sometimes subcutis and calvarium
  • Presents as ulcer, erosion or glistening membrane at birth
  • Resolves leaving alopecic scar
  • 90% on scalp but can be elsewhere
100
Q

What are classic associations with aplasia cutis congenita/hair collar sign? (3)

A
  • Teratogens (methimazole)
  • Adams-Oliver syndrome (aplasia cutis with cranial defect + congenital heart defect + CMTC + limb abnormalities)
  • Bart syndrome (aplasia cutis + DDEB)
101
Q

Name the diagnosis.

  • Where can this occur?
  • What does histopathology show? What happens to the epidermis? Corneum? Dermis?
A

Supernumerary nipple

  • Small soft pink or brown papule with or without an areola and may be concave or umbilicated
  • Can occur on the inner proximal extremities, axillae, trunk and groin
  • Histopathology: papillomatous epidermal hyperplasia, hyperkeratosis, smooth muscle bundles and mammary glands and ducts in dermis and subcutis
102
Q

Name the diagnosis.

  • Where can this occur?
  • What does histopathology show? What happens to the epidermis? Corneum? Dermis?
A

Supernumerary nipple

  • Small soft pink or brown papule with or without an areola and may be concave or umbilicated
  • Can occur on the inner proximal extremities, axillae, trunk and groin
  • Histopathology: papillomatous epidermal hyperplasia, hyperkeratosis, smooth muscle bundles and mammary glands and ducts in dermis and subcutis
103
Q

Name the diagnosis.

  • Where can this occur?
  • What does histopathology show? What happens to the epidermis? Corneum? Dermis?
A

Supernumerary nipple

  • Small soft pink or brown papule with or without an areola and may be concave or umbilicated
  • Can occur on the inner proximal extremities, axillae, trunk and groin
  • Histopathology: papillomatous epidermal hyperplasia, hyperkeratosis, smooth muscle bundles and mammary glands and ducts in dermis and subcutis
104
Q

What is on the differential diagnosis for diaper dermatitis?

  • Name at least five things.
A
  • Acrodermatitis enteropathica, cystic fibrosis (both due to zinc deficiency)
  • Irritant contact dermatitis (spares inguinal folds)
  • Candidal dermatitis (papulopustules, “satellite” lesions, +intertriginous, +scrotum, thrush)
  • Langerhans cell histiocytosis
  • Psoriasis (+intertriginous, minimal scale)

BASIC Exam Study Guide (11 decks)

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