| CASE REPORT |
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| Year : 2017 | Volume
: 62
| Issue : 4 | Page : 422-426 |
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Keratin 17 mutations in four families from India with pachyonychia congenita
Manoj Agarwala1, Pankaj Salphale1, Dincy Peter1, Neil J Wilson2, Susanne Pulimood1, Mary E Schwartz3, Frances J D Smith2
1 Department of Dermatology, Christian Medical College, Vellore, Tamil Nadu, India
2 School of Life Sciences, Division of Biological Chemistry and Drug Discovery, Dermatology and Genetic Medicine, University of Dundee, Dundee, UK
3 Pachyonychia Congenita Project, Salt Lake City, UT, USA
Correspondence Address:
Manoj Agarwala
Department of Dermatology, Christian Medical College, Vellore, Tamil Nadu
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ijd.IJD_321_16
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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. |
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