Pachyonychia Congenita Type II: A Case Report

Authors

  • Sindhuri Redd V
  • Madhavi Latha M
  • Masthan Saheb D

Abstract

Pachyonychia congenita type II is an autosomal dominant inherited rare genodermatosis characterized by dystrophic wedge shaped thickened nails with subungual hyperkeratosis, symmetric palmoplantar keratoderma, steatocystoma multiplex. Here we report a 23-year-old male with characteristic features of dystrophic nails, palmoplantar keratoderma, steatocystoma multiplex, follicular hyperkeratotic papules and history of natal teeth at birth.

References

Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, et al. ... congenita. J Investig Dermatol Symp Proc (2005). 10: 3–17.

Karunakaran PM, Aparna P, Ragunatha S. Pachyonychia congenital. In: Valia RG, Valia AR, editors. IADVL textbook of dermatology, India: Bhalani Publishing House 3rd ed. (2010). pp. 1008– 1009.

De Berker DAR, Baran R. Pachyonychia congenita. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook’s textbook of dermatology, 8th ed. New York: Wiley Blackwell Publishers (2010). pp. 65.20

Tosti A, Piracini BM. Fitzpatricks Dermatology. In: Wolf K, Agoldsmith L, et al. editors. General medicine, 7th ed. New York: Macgraw Hill Publishers (2008). pp. 783–84.

Kirkham N. Tumors and cysts of the epidermis. In: Elder D, et al. editor. Lever’s histopathology of the skin, 8th ed. Pennsylvania: Lippincott-Raven Publishers (1997). pp. 697–98.

Kamala KA, Ashok, L, Annigeri, Rajeshwari G. Pachyonychia congenita associated with oral leukoplakia: a rare case report with review of literature. J Indian Acad Oral Med Radiol (2011). 23(4): 633–37.

Morais, Peralta L, Loureiro M, Coelho S. Pachyonychia congenita Type II (Jackson-Lawler syndrome) or PC-17: case report. Acta Dermatovenreol Croat (2013). 211(1): 48–51.

Fu T, Leachman SA, Wilson NJ, Smith FJ, Schwartz ME, Tang JY. Genotype–Phenotype correlations among pachyonychia congenita patients with K16 Mutations. J Invest Dermatol (2011). 131(5): 1025–28.

Agarwal P, Chhaperwal MK, Singh A, Verma A, Nijhawan M, Singh K, Mathur D, Pachyonychia congenita: a rare genodermatosis. Indian Dermatol Online J (2013). 4(3): 225–227.

Smith FJ, McKusick VA, Nielsen K, et al. Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1. Prenat Diagn (1999). 19(10): 941–946.

Langford JH. Pachyonichia congenita. J Am Podiatr Med Assoc (1978). 68: 587–591.

Downloads

Published

2014-11-17

Issue

Section

Case Report