Parana hard skin syndrome

Orpha code: 2812OMIM code: 260530

Definicja

A rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.

Disease data
Klasyfikacja

Disease

Synonimy
Hard skin syndrome, Parana type
Zespół twardej skóry, typu Parana
Kod ORPHA
2812
Kod OMIM
260530
Kod ICD10
L91.8
Kod ICD11
-

No additional description.

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