TY - JOUR
T1 - Keratin 17 mutations in four families from India with pachyonychia congenita
AU - Agarwala, Manoj
AU - Salphale, Pankaj
AU - Peter, Dincy
AU - Wilson, Neil J.
AU - Pulimood, Susanne
AU - Schwartz, Mary E.
AU - Smith, Frances J. D.
N1 - No funding
PY - 2017/7/10
Y1 - 2017/7/10
N2 - Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Four unrelated Indian families presented with a clinical diagnosis of PC. This was confirmed by genetic testing; mutations in KRT17 were identified in all affected individuals.
AB - Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Four unrelated Indian families presented with a clinical diagnosis of PC. This was confirmed by genetic testing; mutations in KRT17 were identified in all affected individuals.
KW - Cysts
KW - keratin
KW - keratin mutation
KW - nail dystrophy
KW - pachyonychia congenita
KW - palmoplantar keratoderma
KW - plantar pain
UR - http://www.scopus.com/inward/record.url?scp=85025078540&partnerID=8YFLogxK
U2 - 10.4103/ijd.IJD_321_16
DO - 10.4103/ijd.IJD_321_16
M3 - Article
C2 - 28794556
AN - SCOPUS:85025078540
SN - 0019-5154
VL - 62
SP - 422
EP - 426
JO - Indian Journal of Dermatology
JF - Indian Journal of Dermatology
IS - 4
ER -