Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17.
Department of Dermatology, Montauban Hospital, Montauban, France.
J
J
Ofaiche
S
S
Duchatelet
S
S
Fraitag
A
A
Nassif
J
J
Nougué
A
A
Hovnanian
D002648:Child; D005260:Female; D006801:Humans; D053537:Keratin-17 / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D053549:Pachyonychia Congenita / Q000235:genetics*; D012536:Scalp Dermatoses / Q000235:genetics*; D012883:Skin Ulcer / Q000235:genetics*; D062685:Steatocystoma Multiplex / Q000235:genetics*
D053537:Keratin-17