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AEC Syndrome / Ankyloblepharon filiforme adenatum Ectodermal dysplasia Cleft palate-Hay Wells syndrome
Synonym


Inheritance
Ankyloblepharon filiforme adenatum Ectodermal dysplasia Cleft palate-Hay Wells syndrome


Autosomal dominant; p63 gene on 3q27
Prenatal
DNA analysis
Ultrasound
Incidence
Rare; M=F
Age at Presentation
Birth
Pathogenesis
Heterozygous missense mutations in the sterile alpha motif (SAM) domain of the p63 tumor suppressor gene contribute to phenotype in many cases
Clinical
Skin
Birth
Collodion membrane like with erythroderma, scale, erosions; sheds to reveal dry, thin skin scalp
Chronic erosive dermatitis with granulation tissue, crusting, bacterial superinfection

Hair
Scalp hair is sparse, wiry, light color, scarring alopecia Sparse body hair, eyelashes, eyebrows

Nails
Dystrophic, absent

Eyes
Ankyloblepharon (fusion of eyelids with strands of skin) (70%); lacrimal duct atre¬sia/obstruction with secondary conjunctivitis, blepharitis

Head/Neck
Cleft palate with/or without lip (80%), anodontia/hypodontia, malformed ears, chronic otitis with secondary hearing loss
D/Dx
EEC syndrome (p. 288)
Rapp Hodgkin syndrome
CIE (p. 12)
Epidermolysis bullosa (p. 200)
Lab
Bacterial cultures of skin
Head films
DNA analysis
Management
Referral to plastic surgeon cleft repair team Referral to ophthalmology surgical lysis of ankyloblepharon, general ophthalmo¬logic care
Referral to dermatologist emolliation, infection surveillance, gentle scalp care
Prognosis
Early intervention will lead to improved outcome