Synonym(s)
Carpo-tarsal Osteolysis Type Winchester; MIM 277950
DefinitionThis section has been translated automatically.
Very rare, hereditary skeletal dysplasia with progressive multifocal osteolysis, characterized by dwarfism, circumscribed hypertrichosis, hyperpigmentation over the base joints of the fingers, joint destruction, skin thickening, hypertrophy of lips and gingiva (macrulia), macroglossia (inconstant).
EtiopathogenesisThis section has been translated automatically.
Autosomal recessive inheritance. Mutation in the MMP14 gene, which codes for matrix metalloproteinase14, an enzyme that plays an important role in collagen synthesis.
TherapyThis section has been translated automatically.
Symptomatic treatment, causal therapy not known, genetic counseling.
LiteratureThis section has been translated automatically.
- Nabai H et al (1977) Winchester Syndrome: Report of a case from Iran. J Cut Patho 4: 281-285
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Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer