Pachyonychia congenital (PC) is a rare autosomal dominant genodermatosis characterized hyperkeratosis affecting the nails and palmoplantar areas, oral leukokeratosis, and cystic lesions. A 39-year-old woman with PC type 1 (Jadassohn-Lewandowsky syndrome) and B-cell lymphoma is described. No similar disorders or parental consanguinity were found in her family. Typical features of PC developed si...

BACKGROUND Pachyonychia congenita (PC) is a genodermatosis caused by mutations in 1 of 4 known keratin genes, including KRT6A, KRT6B, KRT16, or KRT17. The most common mode of inheritance is autosomal dominant. Families with an affected parent are routinely counseled about the 50% transmission risk to each offspring. In some cases, families with a rare disorder like PC can initially present with...

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...

Onset of type I keratin 17 (K17) synthesis marks the adoption of an appendageal fate within embryonic ectoderm, and its expression persists in specific cell types within mature hair, glands, and nail. We report that K17 null mice develop severe alopecia during the first week postbirth, correlating with hair fragility, alterations in follicular histology, and apoptosis in matrix cells. These alt...

Many advances in dermatology have been made in recent years. In the present review article, newly described disorders from the last six years are presented in detail. We divided these reports into different sections, including syndromes, autoinflammatory diseases, tumors, and unclassified disease. Syndromes included are "circumferential skin creases Kunze type" and "unusual type of pachyonychia...

This is a report on two unrelated male children with a stable ring chromosome of the G group, associated with severe mental retardation, an unusual facies, and pachyonychia congenita of the toe nails. The facial appearance was so strikingly similar, that the diagnosis in the second case was suspected clinically. Although there have been a number of reports of ring formation, simple deletion, or...

Pachyonychia congenita (PC) is a rare keratinizing disorder characterized by painful palmoplantar keratoderma (PPK), thickened nails and blistering for which there are no standard current treatment. PC caused dominant mutations in keratin 6A, 6B, 6C, 16 17 genes involved stress, wound healing epidermal barrier formation. Mechanisms leading to pain PPK remain elusive. To gain further insight int...