Keratoderma-hypotrichosis-leukonychia totalis syndrome (KHLS) is an extremely rare, autosomal-dominant disorder characterized by severe skin hyperkeratosis, congenital alopecia and leukonychia totalis. The genetic defect underlying KHLS remained undetermined. By performing whole-exome sequencing in a family with KHLS, we identified a heterozygous mutation (c.23G>T [p.Gly8Val]) in GJA1, which co...

262 Ann Dermatol Received Setember 21, 2012, Revised February 21, 2013, Accepted for publication April 22, 2013 Corresponding author: Sook-Ja Son, Department of Dermatology, Eulji General Hospital, 68 Hangeulbiseong-ro, Nowon-gu, Seoul 139-711, Korea. Tel: 82-2-970-8580, Fax: 82-2-974-1577, E-mail: ssjmdderma@ daum.net This is an Open Access article distributed under the terms of the Creative C...

Terry's nails are a type of apparent leukonychia, characterized by ground glass opacification of nearly the entire nail, obliteration of the lunula, and a narrow band of normal, pink nail bed at the distal border. The aim of this study is to guide clinical practice by reviewing all of the data concerning Terry's nail that have become available since the original description by Terry in 1954, wi...

All member of family referred to our clinic complaining of white nails. Physical examination revealed clinical features of leukonychia totalis and also the presence of sensor ineural hearing loss (SNHL), palmoplantar keratoderma (PPK) and knuckle pads, the four essential criteria for the diagnosis of Bart Pumphrey syndrome. Three generations were affected with variable presentations in ma...

Punctate leukonychia is particularly frequently seen in young girls when they start to perform their own manicure. It is thought to be of traumatic origin, but this only explains a part of the cases. Punctate und short striate leukonychia is often a sign of a hammer blow when it overlies a subungual hematoma. Crush injuries are usually bigger (Figure1). Transverse leukonychia may be a sign of l...