Ectodermal Dysplasias (see Table 2-8) | | | | | | | Table 2-8 Ectodermal Dysplasias | | | Disease | | Inh | | Mutation | | Clinical Appearance | | | Hidrotic Ectodermal Dysplasia
(Clouston Syndrome) | | AD | | GJB6 (connexin 30) | | Hypotrichosis, diffuse PPK, nail dystrophy, NORMAL teeth and sweating, MR, ocular abnormalities | | | Hypohidrotic (Anhidrotic) Ectodermal Dysplasia (Christ-Siemens-Touraine) | | XR | | EDA (ectodysplasin A) | | Hypotrichosis, periorbital hyperpigmentation, ABSENT or conical teeth, sweating with heat intolerance, NORMAL nails, saddle nose, everted thick lips, ↑ bronchopulmonary infections | | | | AD, AR | | EDAR gene (ED-A receptor) | | | | Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome
(AEC) (Hay-Wells) | | AD | | p63 | | Chronic erosive scalp dermatitis, abnormal granulation tissue, recurrent bacterial infections, ankyloblepharon, hypotrichosis, 80% cleft lip/palate | | | Ectodermal Dysplasia- Ectrodactyly-Clefting Syndrome
(EEC) (Split Hand-Split Foot- Ectodermal Dysplasia-Clefting) | | AD | | p63 | | Ectrodactyly (split hand/foot), hearing loss, nail dystrophy, ± PPK, 70% cleft lip/palate, sparse and dry hair, hypodontia | | | Rapp-Hodgkin Syndrome | | AD | | | | Mid facial hypoplasia, cleft lip/palate, scalp dermatitis, ↓ sweating, nail dystrophy, hypodontia | | | Ectodermal Dysplasia/Skin Fragility Syndrome | | AR | | Plakophilin-1 | | Trauma-induced bullae (most prominent during infancy), sparse hair, thick dystrophic nails | | | | | | | | | |
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