Clericuzio-type poikiloderma with neutropenia (PN) is characterized by poikiloderma, non-cyclic neutropenia, recurrent sinopulmonary infections, pachyonychia, and palmo-plantar hyperkeratosis. Mutations in the C16orf57 gene, which is located on chromosome 16q13, have been identified as the cause of PN. PN was first described by Clericuzio in Navajo Indians. Herein, we reported the clinical pres...

Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis characterized by hyperkeratosis affecting the nails and palmoplantar areas, oral leucokeratosis, and cystic lesions. It is classically subdivided into two major variants, PC-1 (Jadassohn-Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localization of the mutations in the KRT6A/KRT16 or KRT6B/KRT17...

A broad spectrum of paraneoplastic dermatoses is associated with lung cancer. We report herein a 56-year-old man who presented an association of erythroderma, acquired ichthyosis, palmo-plantar keratoderma, hypereosinophilia and hyper IgE. In light of these clinical and biological assessments an underlying malignancy had been suspected. A thoracic, abdominal and pelvic computed tomography showe...

Melanonychia commonly appears as a longitudinal band, starting from the matrix and extending to the tip of the nail plate. Less often it presents a transverse band or may inolve whole nail plate. Cutaneous side effects of hydroxyurea are described in 13% of patients including increased pigmentation, hyperkeratosis, skin atrophy, xerosis, lichenoid eruptions, palmar and plantar keratoderma, cuta...

526 Ann Dermatol Received September 21, 2012, Revised January 29, 2013, Accepted for publication February 2, 2013 *Hyung Ok Kim and Bo In Lee have equal contribution to this study and are co-first authors of this paper. Corresponding author: Young Min Park, Department of Dermatology, Seoul St. Mary’s Hospital, The Catholic University of Korea College of Medicine, 222 Banpo-daero, Seocho-gu, Seo...

We compared patterns of intraepidermal nerve fibers and mechanoreceptors from affected and unaffected plantar skin from patients with pachyonychia congenita (PC) and control subjects. Plantar biopsies from 10 genetically confirmed patients with PC (with a mutation in KRT6A) were performed at the ball of the foot (affected skin) and the arch (unaffected) and were compared to biopsies from corres...

Palmoplantar keratodermas (PPKs) represent a diverse group of hereditary and acquired disorders characterized by hyperkeratosis of the skin on the palms and soles [1]. The three major patterns of involvement are diffuse, focal and punctate. There are clinical distinguishing features for each disease in this group, for example, transmigration to areas beyond the palmoplantar skin. Also the exten...

BACKGROUND High-variable-frequency ultrasound is used as an imaging tool for various cutaneous disorders. We utilized this tool in pachyonychia congenita (PC) patients, who typically present with plantar hyperkeratosis and often severely debilitating pain, compared to patients with epidermolytic palmoplantar keratoderma (EPPK) and mal de Meleda (MDM). OBJECTIVE To ascertain the feasibility of...