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A case of dermatopathia pigmentosa reticularis with wiry scalp hair and digital fibromatosis resulting from a recurrent KRT14 mutation
Author(s) -
Goh B. K.,
Common J. E. A.,
Gan W. H.,
Kumarasinghe P.
Publication year - 2009
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2008.02950.x
Subject(s) - scalp , dermatology , medicine , hyperpigmentation , hyperkeratosis , pigmentation disorder , fibromatosis , mutation , keratoderma , genodermatosis , proband , palmoplantar keratoderma , trunk , pathology , biology , genetics , ecology , gene
Summary We report a patient of Malay ancestry with dermatopathia pigmentosa reticularis (DPR) resulting from a recurrent KRT14 p.R125C mutation. The patient has reticulate hyperpigmentation over his trunk and proximal limbs, together with onychodystrophy. Despite the absence of noncicatricial alopecia, he has acral nonscarring blisters, palmoplantar hyperkeratosis and hypoplastic dermatoglyphics, in addition to unusual abnormalities such as wiry scalp hair and digital fibromatous thickening.