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11 Cards in this Set
- Front
- Back
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Clinical Hidrotic Ectodermal Dysplasia/ Clouston Syndrome
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Synonym
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Clouston syndrome
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Inheritance
Prenatal |
Autosomal dominant; connexin 30 (GJB6) gene on 13q11 12
None listed |
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Incidence
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Rare; most common in French Canadian and French population; M=F
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Age at Presentation
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Birth to neonatal period
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Pathogenesis
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Mutation in connexin 30 leads to defective ectodermal development and maintenance
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Clinical
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Skin
Palmoplantar keratoderma with transgradiens Nails Dystrophy thickened, milky white early on, micronychia, hyperconvex, longitudinal striations, discolored, brittle, absent Paronychial infections with/without nail matrix destruction Hair Scalp normal early on but often becomes thin, wiry, brittle, pale, sparse, or absent after puberty Body, eyelashes, eyebrows sparse to absent; secondary conjunctivitis, blepharitis Musculoskeletal Tufting of terminal phalanges and thickened skull bones may occur |
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D/Dx
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Other PPK’s
Pachyonychia congenita |
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Lab
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None Listed
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Management
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Referral to dermatologist diagnosis, keratolytics, surgical debridement, antibiotics (paronychia), wigs and nail sculpturing /bonding for cosmesis; nail matrix ablation to relieve pain
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Prognosis
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Normal life span
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