" /> Dupuytren contracture - CISMeF





Preferred Label : Dupuytren contracture;

CISMeF acronym : DUPC1;

Type : Phenotype or locus, molecular basis unknown;

Included titles and symbols : Dupuytren contracture 1; Plantar fibromas; Plantar fibromatosis, familial; DUPC1;

Description : Dupuytren contracture is the most common heritable disorder of connective tissue. It is a disease of the soft tissues of the palm and fingers characterized by a progressive thickening and shortening of the fascial structures that normally provide support to the glabrous skin of the palm. Although it can also be a sporadic disorder, the inherited form is most frequently observed among people of Nordic descent. There is a male: female ratio of greater than 3:1 (Hu et al., 2005). Dupuytren contracture has been associated with multiple fibroproliferative conditions, including Peyronie disease (171000), knuckle pads (149100), congenital generalized fibromatosis (228550), juvenile fibromatosis (228600), and frozen shoulder, suggesting a common underlying defect in wound repair (Hu et al., 2005).;

Inheritance : Autosomal dominant;

Prefixed ID : %126900;

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18/05/2024


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