Jadassohn Lewandowsky Syndrome: A Rare Entity.
Kuppam, India. In Indian J Dermatol, Sep 2015
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 genes, respectively.
Pachyonychia congenita with laryngeal obstruction.
Calgary, Canada. In Pediatr Dermatol, 2011
This report is the first case of pachyonychia congenita with laryngeal obstruction in which the gene mutation has been established (a deletional mutation in keratin 6a).
Keratin gene mutations in disorders of human skin and its appendages.
Madison, United States. In Arch Biochem Biophys, 2011
Examples include epidermolysis bullosa simplex (EBS; K5, K14), keratinopathic ichthyosis (KPI; K1, K2, K10) i.e. epidermolytic ichthyosis (EI; K1, K10) and ichthyosis bullosa of Siemens (IBS; K2), pachyonychia congenita (PC; K6a, K6b, K16, K17), epidermolytic palmo-plantar keratoderma (EPPK; K9, (K1)), monilethrix (K81, K83, K86), ectodermal dysplasia (ED; K85) and steatocystoma multiplex.
Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.
Salt Lake City, United States. In J Dermatol Sci, 2008
Utilizing the technological by-products of the human genome project, such as RNA interference (RNAi) and quantitative RT-PCR (qRT-PCR), physicians and scientists have collaborated to create a candidate siRNA therapeutic that selectively inhibits a mutant allele of KRT6A, the most commonly affected PC keratin.
Seattle, United States. In Unknown Journal, 2006
DIAGNOSIS/TESTING: PC is diagnosed by clinical findings and by molecular genetic testing to detect a heterozygous pathogenic variant in one of the five keratin genes known to cause PC: KRT6A, KRT6B, KRT6C, KRT16, and KRT17.