Pachyonychia Congenita With Recessive Inheritance

摘要: To the Editor.— Pachyonychia congenita (PC), a rare genodermatosis, to our knowledge was first described by Jadassohn and Lewandowsky in 1906. It is characterized typically thickened dystrophic nails, keratoderma of palms soles, hyperhidrosis, plantar blisters, keratosis pilaris, leukokeratosis oris, ichythosis, steatocytoma multiplex, epidermal cysts, other features dyskeratosis such as corneal dystrophy, cataract, hypoplastic hair, changes teeth, nose, ears, mucous membranes. A majority cases were reported from Europe America, studies several large families have demonstrated that PC transmitted simple mendelian dominant gene with incomplete penetrance. 2-6 Asian rarely reported, disease, far we are aware, has not been known be inherited an autosomal recessive trait. Recently, Indian girl Western Malaysia found PC, but disease appeared disorder, she