Parana hard skin syndrome

Orpha code: 2812OMIM code: 260530

Definition

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
Classification

Disease

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

No additional description.

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