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X‐linked recessive polyfibromatosis manifesting with spontaneous keloid scars and Dupuytren's contracture
Author(s) -
Ly Lena,
Winship Ingrid
Publication year - 2012
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/j.1440-0960.2011.00740.x
Subject(s) - medicine , contracture , dupuytren's contracture , dermatology , scars , presentation (obstetrics) , keloid , inheritance (genetic algorithm) , autosomal recessive inheritance , surgery , genetics , biology , gene
We present a patient with keloid scars and Dupuytren's contracture comprising the polyfibromatosis syndrome; four members over three generations of his family are also affected. To our knowledge this is the first familial case reported of polyfibromatosis with this specific phenotypic presentation and probable X‐linked recessive inheritance.