Learn About Pachyonychia Congenita
Pachyonychia congenita is a condition that primarily affects the skin and nails. The signs and symptoms of this condition usually become apparent within the first few years of life.
Variants (also called mutations) in the KRT6A, KRT6B, KRT6C, KRT16, or KRT17 genes cause pachyonychia congenita.
Pachyonychia congenita is a very rare disorder, although its exact prevalence is unknown.
Pachyonychia congenita is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 60 to 70 percent of all cases, an affected person inherits the variant from one affected parent. Thirty to 40 percent of cases result from a new (de novo) variant in the gene that occurs during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
Alain Hovnanian practices in Paris, France. Mr. Hovnanian is rated as an Elite expert by MediFind in the treatment of Pachyonychia Congenita. His top areas of expertise are Netherton Syndrome, Dystrophic Epidermolysis Bullosa, Olmsted Syndrome, and Epidermolysis Bullosa.
Edel O'toole practices in London, United Kingdom. O'toole is rated as an Elite expert by MediFind in the treatment of Pachyonychia Congenita. Their top areas of expertise are Pachyonychia Congenita, Ectodermal Dysplasias, Clouston Syndrome, and Aplasia Cutis Congenita.
Dermatology Division University Of Utah Medical Center
Sancy Leachman is a Dermatologist in Salt Lake City, Utah. Dr. Leachman is rated as a Distinguished provider by MediFind in the treatment of Pachyonychia Congenita. Her top areas of expertise are Melanoma, Pachyonychia Congenita, Aplasia Cutis Congenita, Clouston Syndrome, and Tissue Biopsy. Dr. Leachman is currently accepting new patients.
Summary: PALV-08 is a multicenter, open-label treatment (OLT) study enrolling adults with Pachyonychia Congenita (PC) with genotyped keratin mutations KRT6A, KRT6B, KRT6C or KRT16 who were previously enrolled in the PALV-05 (VAPAUS) trial. The purpose of this OLT study is to investigate the safety of long term exposure and pharmacokinetics (PK) of QTORIN rapamycin 3.9% anhydrous gel or PTX-022.
Summary: International Pachyonychia Congenita Research Registry (IPCRR) is a patient registry for those suffering from Pachyonychia Congenita (PC). PC is an ultra-rare extremely painful skin disorder that causes painful blisters and callus on feet and sometimes hands, thickened nails, cysts and other features. The IPCRR consists of a questionnaire, patient photos, optional physician notes from telephone co...
Published Date: April 24, 2023
Published By: National Institutes of Health