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11 Cards in this Set

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Clinical Hidrotic Ectodermal Dysplasia/ Clouston Syndrome
Synonym
Clouston syndrome
Inheritance


Prenatal
Autosomal dominant; connexin 30 (GJB6) gene on 13q11 12


None listed
Incidence
Rare; most common in French Canadian and French population; M=F
Age at Presentation
Birth to neonatal period
Pathogenesis
Mutation in connexin 30 leads to defective ectodermal development and maintenance
Clinical
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
D/Dx
Other PPK’s
Pachyonychia congenita
Lab
None Listed
Management
Referral to dermatologist diagnosis, keratolytics, surgical debridement, antibiotics (paronychia), wigs and nail sculpturing /bonding for cosmesis; nail matrix ablation to relieve pain
Prognosis
Normal life span