Hidrotic ectodermal dysplasia - Skin in Adult
Patients with hidrotic ectodermal dysplasia have fragile, wiry hair that often progresses to alopecia in late life. In infancy, nails appear thickened and milky white; then they evolve into short, thickened nails in adulthood. Patients also frequently have focal palmoplantar keratoderma.
In contrast to hypohidrotic/anhidrotic ectodermal dysplasia, these patients have normal capacity to sweat and often have normal dentition.
For more information, see OMIM.
Q82.4 – Ectodermal dysplasia
54209007 – Hidrotic ectodermal dysplasia
- Pachyonychia congenita – Can have dystrophic nails with distal elevation of nail plate, usually affecting all 20 nails. Absence of hyperkeratosis and hair changes will eliminate this condition.
- Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) and Hay-Wells syndrome of ectodermal dysplasia (ankyloblepharon-ectodermal dysplasia-cleft lip / palate [AEC], including Rapp-Hodgkin syndrome) – Types of hidrotic ectodermal dysplasias, but the hallmark of these conditions is palate defects, which easily distinguishes this from hidrotic ectodermal dysplasia.
- Howel-Evans syndrome – Weight-bearing palmoplantar keratoderma. Patients will lack nail and hair changes.
- Vohwinkel syndrome – Palmoplantar keratoderma with scarring alopecia. These patients will typically have deafness and pseudo-ainhum, which will help distinguish this from hidrotic ectodermal dysplasia.
- Papillon-Lefèvre syndrome – Palmoplantar keratoderma with sparse hair as well as periodontitis and gingivitis. Patient will have normal nails.
- Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) – Sparse hair, hypodontia, and characteristic facies with periorbital hyperpigmentation. Hypohidrosis, often presenting as overheating with exercise; limited to no nail abnormalities; and mode of inheritance (X-linked recessive) help to differentiate these patients.