We report a six year old male with mental retardation, postaxial polydactyly and syndactyly, atrichia congenita totalis, severe seborrhoeic dermatitis, recurrent staphylococcal skin sepsis, and Perthes' disease of the hip. His birth may have resulted from an incestuous mating.

PC is a rare, debilitating disease with lifelong limited mobility caused by mutations in KRT6, 16, or 17. There are no approved therapies. mTOR regulates expression of KRT6 and its binding partners KRT16 We completed Ph. 2/3 3b trials QTORIN rapamycin for PC. identified cohort subjects, gradual responders, who accrued higher response between 12 24 weeks therapy. The trial was randomized withdra...

BACKGROUND Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma. The new classification is based on genetic variants with mutations in keratin KRT6A, KRT6B, KRT6C, KRT16, KRT17, and an unknown mutation. Here, we present a case of PC with unusual clinical and histological features and a fav...

Pachyonychia congenita (PC) is a keratinizing disorder predominantly caused by mutations in keratin 6a (K6a) (∼50% of cases) or K6b, K16, or K17. One means of treating PC is identification of small-molecule inhibitors of PC-related keratins. Here, we cloned the human K6a promoter, and using a cell-based reporter gene assay, a chemical library was screened for K6a inhibitors. One compound, compa...

O EN ESPA~OL Usando medios de cultivo especiales y procedimientos meticulosos de tinci6n, ambos descritos en detalle en el texto del 19,2 Alexander-Jackson: Pleomorphic Organism 185 articulo, la autora reporta el hallazgo de microorganismos pleom6rficos en la sangre de 10 pacientes leprosos. Los microorganismos tienen propiedades variables, aveces son bacilares, otras cocoides, en ocasiones aci...

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...

1 Rugg EL, Leigh IM. The keratins and their disorders. Am J Med Genet C Semin Med Genet 2004; 131C:4–11. 2 Bernier V, Lagace M, Bichet DG et al. Pharmacological chaperones: potential treatment for conformational diseases. Trends Endocrinol Metab 2004; 15:222–8. 3 Morley SM, Dundas SR, James JL et al. Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines...

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...