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Skin manifestations in a case of trisomy 16 mosaicism
Author(s) -
Ousager L.B.,
Brandrup F.,
BraschAndersen C.,
Erlendsson A.
Publication year - 2006
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2005.06928.x
Subject(s) - boulevard , medicine , dermatology , trisomy , library science , family medicine , history , biology , computer science , genetics , archaeology
Summary We present a 48‐year‐old man with unilateral dermatological manifestations including hypertrichosis, telangiectasia, hyperkeratosis and hyperpigmentation. Additional findings included skeletal abnormalities and left‐sided hearing loss. Skin biopsies showed changes characteristic of porokeratosis. Fibroblast karyotyping from affected skin demonstrated trisomy 16 mosaicism, in contrast to the normal karyotype in unaffected skin and blood lymphocytes. The possible role of trisomy 16 in porokeratosis is discussed.