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Синдром гіпотрихозу-остеолізу-періодонтиту-пальмоплантарної кератодермії

ORPHA:307936· ICD-10 Q82.8· Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

Визначення(English summary)

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.

Поширеність
<1 / 1 000 000
Вік початку
Infancy, Neonatal