A RARE CASE OF PACHYONYCHIA CONGENITA TYPE-1 FROM PAKISTAN
DOI:
https://doi.org/10.55519/JAMC-S4-13064Keywords:
Pachyonychia congenita; Genodermatosis; Subungual hyperkeratosisAbstract
Pachyonychia congenita (PC) is a rare, genodermatosis inherited in an autosomal dominant pattern. Less than 500 cases have been reported in the literature worldwide. The disease commonly affects the nails with the typical findings of subungual hyperkeratosis and discolored nails, skin thickening of the palms and soles causing focal palmoplantar hyperkeratosis and keratoderma. In some patients, the oral mucosa may also be affected by leukokeratosis, natal teeth and hoarseness of voice. There may be the presence of keratosis pilaris, epidermal cysts and steatocystoma multiplex. We present a classical case of pachyonychia congenita type 1 that fulfils the diagnosis with the typical clinical findings of subungual hyperkeratosis, palmoplantar keratoderma and oral leukokeratosis. Our case is one of the first few cases reported from a developing country like Pakistan in the literature.
References
1. Agarwal P, Chhaperwal MK, Singh A, Verma A, Nijhawan M, Singh K, et al. Pachyonychia congenita: A rare genodermatosis. Indian Dermatol Online J 2013;4(3):225–7.
2. Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WI, et al. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc 2005;10(1):3–17.
3. Smith FJD, Hansen CD, Hull PR, Kaspar RL, McLean WI, O’Toole E, et al. Pachyonychia Congenita. In: GeneReviews®. University of Washington, Seattle, Seattle (WA); 1993.
4. Samuelov L, Smith FJ, Hansen CD, Sprecher E. Revisiting pachyonychia congenita: a case‐cohort study of 815 patients. Br J Dermatol 2020;182(3):738–46.
5. Abdollahimajd F, Rajabi F, Shahidi‐Dadras M, Saket S, Youssefian L, Vahidnezhad H, et al. Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation. Br J Dermatol 2019;181(3):584–6.
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