Abstract | BACKGROUND:
Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma. The new classification is based on genetic variants with mutations in keratin KRT6A, KRT6B, KRT6C, KRT16, KRT17, and an unknown mutation. Here, we present a case of PC with unusual clinical and histological features and a favorable response to oral acitretin. CASE: CONCLUSION: To our knowledge, epidermolytic hyperkeratosis has not been previously described with PC. Our patient had an excellent response, maintained over the last 5 years, to a low dose of acitretin. We wish to emphasize the crucial role of whole exome sequencing in establishing the correct diagnosis.
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Authors | Fahad Almutawa, Thusanth Thusaringam, Kevin Watters, Tenzin Gayden, Nada Jabado, Denis Sasseville |
Journal | Case reports in dermatology
(Case Rep Dermatol)
2015 May-Aug
Vol. 7
Issue 2
Pg. 220-6
ISSN: 1662-6567 [Print] Switzerland |
PMID | 26464567
(Publication Type: Case Reports)
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