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11 Cards in this Set
- Front
- Back
AEC Syndrome / Ankyloblepharon filiforme adenatum Ectodermal dysplasia Cleft palate-Hay Wells syndrome
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Synonym
Inheritance |
Ankyloblepharon filiforme adenatum Ectodermal dysplasia Cleft palate-Hay Wells syndrome
Autosomal dominant; p63 gene on 3q27 |
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Prenatal
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DNA analysis
Ultrasound |
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Incidence
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Rare; M=F
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Age at Presentation
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Birth
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Pathogenesis
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Heterozygous missense mutations in the sterile alpha motif (SAM) domain of the p63 tumor suppressor gene contribute to phenotype in many cases
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Clinical
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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 |
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D/Dx
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EEC syndrome (p. 288)
Rapp Hodgkin syndrome CIE (p. 12) Epidermolysis bullosa (p. 200) |
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Lab
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Bacterial cultures of skin
Head films DNA analysis |
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Management
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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 |
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Prognosis
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Early intervention will lead to improved outcome
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