Parana hard skin syndrome
Synonyms: Hard skin syndrome, Parana type
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Parana hard skin syndrome?
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