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Pachyonychia congenita responding favorably to a combination of surgical and medical therapies
Author(s) -
Daroach Manju,
Dogra Sunil,
Bhattacharjee Rajsmita,
TP Afra,
Smith Frances,
Mahajan Rahul
Publication year - 2019
Publication title -
dermatologic therapy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.595
H-Index - 68
eISSN - 1529-8019
pISSN - 1396-0296
DOI - 10.1111/dth.13045
Subject(s) - medicine , dermatology , hyperkeratosis , trametinib , sirolimus , genetic disorder , surgery , quality of life (healthcare) , disease , mapk/erk pathway , nursing , kinase , biology , microbiology and biotechnology
Pachyonychia congenital (PC) is a rare genetic disorder of cornification and is classified into five types on the basis of keratin gene involved. There are no established treatment options available for PC. Sirolimus in both topical and oral form has been studied in management of PC. We report a young female with a novel genetic mutation in KRT6A gene who presented with painful palmoplantar hyperkeratosis and onychogryphosis, which was cosmetically disfiguring. She was prescribed oral sirolimus after all investigations. There was significant improvement in pain within a week. Pain relief was sustained at 1 year follow‐up with topical treatment only. Serial nail avulsion surgeries were also done with showed significant cosmetic improvement in the nails. Medical therapies can be combined with surgery for a better cosmetic outcome and improvement in patient quality of life.