Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

Orpha code: 307936OMIM code: 607658

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
HOPP syndrome
Zespół hipotrichoza-osteoliza-zapalenie przyzębia-hiperkeratoza dłoniowo-podeszwowa
Zespół HOPP
Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome
Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome
Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome
Kod ORPHA
307936
Kod OMIM
607658
Kod ICD10
Q82.8
Kod ICD11
-

No additional description.

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