A case of dermatopathia pigmentosa reticularis with wiry scalp hair and digital fibromatosis resulting from a recurrent KRT14 mutation.
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.
Goh
B K
BK
Pigment Clinic, National Skin Centre, Singapore. bkgoh@nsc.gov.sg
Common
J E A
JE
Gan
W H
WH
Kumarasinghe
P
P
D003878:Dermatoglyphics; D005350:Fibroma / Q000235:genetics; D005385:Fingers; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics* / Q000473:pathology; D053547:Keratin-14 / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D012878:Skin Neoplasms / Q000235:genetics; D055815:Young Adult
C507540:KRT14 protein, human; D053547:Keratin-14