Developmental Abnormalities Flashcards
What is the pathogenesis of aplasia cutis congenita?
No unifying underlying cause. If midline think neural tube defect; in lateral cases, incomplete closure of embryonic fusion lines
What are the clinical manifestations of aplasia cutis congenita?
Solitary .5-10cm (usually not multiple) well-demarcated round to stellate areas of no epidermis, dermis and sometimes subcutis and calvarium
- Leaves an alopecic scar
- Can present as ulcer, erosion or glistening membrane
- Look for “hair collar sign” which is a congenital rink of dense, dark, and coarse hair around the area of aplasia cutis or other congenital scalp lesion
Where does aplasia cutis congenita occur most commonly?
Most (up to 90%) occur on the scalp
What is the histology of aplasia cutis congenita?
The epidermis is atrophic
- Superficial dermis replaced by loose connective tissue w/ absent adnexal structures
- Hair collar shows hypertrophic clustered hair follicles
When should radiologic studies be done in aplasia cutis congenita?
Should get MRI if there is concern for extension to or calvarial defect
What are the treatment options for aplasia cutis congenita?
No intervention for small lesions
- If large (>4cm) then can consider excision to minimize hemorrhage, meningitis and thrombosis
- If it is located in midline and associated with a palpable component, higher risk of calvarial/CNS defect –> get imaging
What is Adams-Oliver syndrome?
Aplasia cutis w/ cranial defect + congenital heart defects +limb abnormalitites
What genetic conditions are associated w/ aplasia cutis congenita?
Adams Oliver syndrome
Bart syndrome (aplasia cutis + DDEB)
Trisomy 13
Ectodermal dysplasias
Amniotic band syndrome
What non-genetic conditions can be associated w/ aplasia cutis congenita?
Teratogen exposure: Methimazole is common
Other midline/closure defects: omphalocele, gastroschisis, spinal dysraphism, meningomyelocele, focal dermal hypoplasia
- Congenital infections (VZV, HSV)
What is the pathogenesis of nasal glioma?
It is ectopic neuroectoderm
Clinical features of nasal glioma?
Firm, non-compressible, nontender usually skin-colored (can be blue-red) nodule at the root of the nose; can occur in extra nasal (60%) or intranasal (30%) locations
What is the treatment for nasal glioma?
Excision, these are stable over time and there is no intracranial extension
What is the pathogenesis of meningocele/encephalocele?
Herniation of cranial contents through skull defect –> the neuroectoderm did not properly separate from surface ectoderm in early gestation
Clinical findings of meningocele/encephalocele?
A compressible subcutaneous nodule that transilluminates, usually located at the occiput
- Also can occur on dorsal nose, orbits, and forehead
What is the histology of meningocele/encephalocele?
Type of neural tissue tells you if encephalocele versus meningocele (encephalocele has meningeal and glacial tissue vs meningeal only for meningocele)
What is the treatment for meningocele/encephalocele?
Excision, enlarge w/ increased intracranial pressure as a result of connection w/ CNS
Associations with meningocele/encephalocele?
Can be associated with a brain malformation, hypertelorism, facial clefting, presence of hair collar sign, capillary stain, and mass –> high suspicious for cranial dysraphism
What is the pathogenesis of accessory tragus?
Congenital –> faulty development of the first branchial arch
What is the clinical appearance of an accessory tragus?
Exophytic papule, with or without cartilage, occurs anywhere from preauricular region to angle of mouth
- Can be single or multiple and can be bilateral
What is the histology of an accessory tragus?
Tiny hair follicles amidst connective tissue, sometimes w/ cartilaginous core
What is the tx of of an accessory tragus?
Careful excision (the cartiledge if present can be continuous w/ the external ear canal)
Dz associations with an accessory tragus?
Typically isolated
- Can be associated with other branchial arch syndromes like oculoauriculovertebral syndrome or Goldenhar syndrome
What is Goldenhar syndrome?
Incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. Other organs can be affected
Can be associated with deafness and granular cell tumors
What is the pathogenesis of congenital rests of the neck (wattles)?
Remnants of branchial arches; occur along branchial arch fusion lines
What is the clinical appearance of congenital rests of the neck (wattles)?
Soft fleshy to firm cartilaginous nodules along the cervical neck (anterior border of sternocleidomastoid)
What is the histology of congenital rests of the neck (wattles)?
Mature cartilage lobules embedded in cartilage
Treatment for congenital rests of the neck (wattles)?
Excision
What is the pathogenesis of a midline cervical cleft?
Congenital midline defect of ventral neck
Clinical appearance of midline cervical cleft?
Small skin tags above a vertically oriented linear atrophic patch
- Can be a small sinus containing ectopic salivary tissue at bottom of atrophic patch
What can midline cervical cleft be associated with?
Cleft lip/palate/mandible/chin/tongue or midline neck hypoplasia
Tx for midline cervical cleft?
Excision
What is the pathogenesis of lip pits?
Incomplete closure of furrows on mandibular process
Clinical appearance of lip pits?
Bilateral indentations on the vermillion lower lip; can be unilateral
- Associated with cleft lip or palate (Van de Woude syndrome)
Histology of lip pits?
Fistulous lumen lined by stratified squamous epithelium w/ scattered mucinous acini
Tx of lip pits?
Excision/surgical repair
Can be associated w/ abnormal salivation
What is the pathogenesis of umbilical granuloma?
Incomplete epithelialization after umbilical cord separation
Clinical presentation of umbilical granuloma?
Bright red, friable, broad-based nodule in the umbilicus, sometimes w/ a mass underneath
- Can have persistent drainage
What is the histology of umbilical granuloma?
Inflamed vascular granulation tissue
What is the treatment of umbilical granuloma?
Silver nitrate (or cautery)
- Resolves or weeks to months
What is the pathogenesis of developmental anomalies of the umbilicus?
Urachal remnant or omphalomesenteric duct fails to regress
Clinical appearance of developmental anomalies of the umbilicus?
Red to pink nodule within umbilicus, sometimes w/ mass underneath
- Persistent drainage
What is the histology of developmental anomalies of the umbilicus?
Abrupt transition from stratified squamous epithelium to glandular epithelium
- Get abdominal US; referal to peds surgery
Tx of developmental anomalies of the umbilicus?
Referal to peds surgery
US of the abdomen
can become infected and irritated
What is the pathogenesis of amniotic band syndrome?
Premature rupture of the amniotic sac and formation of fibrous strands
What is the clinical appearance of amniotic band syndrome?
Circumferential constriction band of the distal extremity; distal lymphedema, ischemia, and amputation
- Early rupture can cause other extracutaneous malformations
What is the treatment of amniotic band syndrome
Surgical excision
- Can become infected and irritated
What is the pathogenesis of dermoid cysts?
Faulty development along embryonic fusion lines
Clinical presentation of dermoid cysts?
Firm, nontender, skin to blue-colored subcutaneous nodules most commonly seen on the upper lateral forehead, near the eyebrow, overlying the anterior fontanelle, or at the junction of the sagittal and coronal scalp sutures.
- Can be seen anywhere on the face, scalp or spinal axis however
- These can adhere to underlying periosteum
What is the histology of dermoid cysts?
Cysts lined by stratified squamous epithelium and can contain hair follicles, sebaceous glands, and sweat glands
Treatment of dermoid cysts?
Imaging: MRI for those in the midline
Tx: surgical excision, lesions usually don’t recurr
