A familial case of pachyonychia congenita
Keywords:
Hyperkeratotic lesions, oral lesions, nails, pachyonychia congenitaAbstract
Pachyonychia congenita (PC) comprises a group of rare autosomal genodermatosis caused by mutation in any of the four genes KRT6A, KRT6B, KRT16 or KRT17. Classically, it is subdivided into two major variant types, PC-1 (Jadassohn-Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome). We hereby report a case of 22-year-old, married woman with progressive thickening and discoloration of all 20 nails, multiple, hyperkeratotic lesions present all over the body with oral lesions since childhood. She had a 2-month-old male baby (the only child) who presented with similar lesions of yellowish discoloration and nail thickening of both nails and foot since birth. She was diagnosed as PC type 1.References
Irvine AD, Mc Lean WH. Human Keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol. 1990;140:815-28
Feinsteina, Friedman J, Schewach-Millet M. Pachyonychia congenital. J Am Acad Dermatol. 1998;19:705-11
Muller C. On the cause of congenital onychogryphosis. Mcn Med Wonchenschr. 1904;49:2180-2
Leachman SA, Kaspar RL, Fleckman P et al. Clinical and pathologiacal features of pachyonychia congenital. J Invest Dermatol Symp Proc. 2005;10:3-17.
Johnson BL Jr, Yan AC. Congenital diseases (Genodermatosis). In: Elder DE, ed. Lever’s Histopathology of the Skin, 10th edn. Philadelphia: Lippincott-Willians & Wilkins; 2009. P. 138-75.
Mc Lean WH, Rugg EL, Lunny DP et al. Keratin 16 and 17 mutation causes pachyonychia congenital. Nat Genet. 1995;9:273-8.
Murugesh SB, Reddy S, Ragunath S et al. Acro-osteolysis: a complication of Jadassohn-Lewandowsky syndrome. Int J Dermatol. 2007;46:202-5.
Paller AS, Moore JA, Scher R. pachyonychia congenital tarda: a late onset from pachyonychia congenital. Arch Dermatol. 1991;127:701-3.
Bansal A, Sethuraman G, Sharma VK. Pachyonychia congenital with only nail involvement. J Dermatol. 2002;33:437-8.
Smith FJ, MC Kurick VA, Nielsen K et al. Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenital type 1. Prenat Diag.1999;19;941-6.
