BACKGROUND Pachyonychia congenita (PC) is a group of autosomal dominant keratinizing disorders caused by a mutation in one of 4 keratin genes. Previous classification schemes have relied on data from case series and case reports. Most patients in these reports were not genetically tested for PC. OBJECTIVE We sought to clarify the prevalence of clinical features associated with PC. METHODS W...

Pachyonychia Congenita (PC) is a rare autosomal dominant keratin disorder that affects a number of ectodermal structures including the nails and palmoplantar skin, and often involves the oral mucosa, tongue, larynx, teeth and hair. Clinical features are usually present at birth or early infancy. There are two main subtypes of PC. Fingernail thickening and oral keratosis are more common and seve...

The antitumor activity of the histone deacetylase inhibitors was tested in three well-characterized pancreatic adenocarcinoma cell lines, IMIM-PC-1, IMIM-PC-2, and RWP-1. These cell lines have been previously characterized in terms of their origin, the status of relevant molecular markers for this kind of tumor, resistance to other antineoplastic drugs, and expression of differentiation markers...

This rare disease of cartilage in infants has been recorded under various names since it was first described by Langhans (I893). Amongst these are chondrodystrophia calcificans congenita, chondrodystrophia punctata, stippled epiphyses, foetal epiphyseal calcinosis, chondrodystrophia calcarea, chondroangiopathia calcarea seu punctata, and chondrodystrophia hypoplastica calcinosa. Conradi (1914) ...

INTRODUCTION Pachyonychia congenita (PC) is a rare skin disorder caused by an autosomal dominant mutation in one of five genes encoding keratin (K6a, K6b, K6c, K16 or K17; each defining one PC subtype). Pain is a prominent symptom, but its severity and type are poorly characterized. METHODS In total, 35 genotyped US patients with PC consented to clinical assessment including the quality of li...

BACKGROUND Paramyotonia congenita (PMC) of von Eulenburg is an autosomal dominant muscular disease characterized by exercise- and cold-induced myotonia and weakness. To date, 18 missense mutations in the adult skeletal muscle sodium channel alpha-subunit (SCN4A) gene have been identified to cause a spectrum of muscular diseases, including PMC of von Eulenburg, PMC without cold paralysis, potass...

Pachyonychia congenita type 2 (PC-2) is an autosomal dominant disorder characterized by hypertrophic nail dystrophy, focal keratoderma, multiple pilosebaceous cysts, and other features of ectodermal dysplasia. It has been demonstrated that PC-2 is caused by mutations in the keratin 17 and keratin 6b genes. In this report, we describe a missense mutation in the keratin 17 gene, M88T, in a Korean...

Pachyonychia congenita type 2 (PC-2; Jackson-Lawler syndrome) is an autosomal dominant disorder characterized by hypertrophic nail dystrophy, mild focal keratoderma, multiple pilosebaceous cysts and other features of ectodermal dysplasia. Keratin 17 (K17) is a differentiation-specific keratin expressed in the nail bed, hair follicle, sebaceous gland and other epidermal appendages. Previously, w...

Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder characterized predominantly by nail dystrophy and painful palmoplantar keratoderma. Additional clinical features include oral leukokeratosis, follicular keratosis, and cysts (steatocysts and pilosebaceous cysts). PC is due to heterozygous mutations in one of four keratin genes, namely, KRT6A, KRT6B, KRT16, or KRT17. Here, we...

Dear Editor, Pachyonychia congenita (PC) is an ultra-rare hereditary skin disorder primarily characterized by severe, painful and highly debilitating plantar keratoderma, variable hypertrophic nail dystrophy, epidermal cysts, leukokeratosis and other features. PC is caused by heterozygous dominant-negative mutations in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16 or KRT17 (encoding...