Palmoplantarkeratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the stratum corneum of the palms and soles. Autosomal...
"diffuse non-epidermolytic palmoplantarkeratoderma with woolly hair and cardiomyopathy" or "diffuse palmoplantarkeratoderma with woolly hair and arrhythmogenic...
Leukoencephalopathy (leukodystrophy-like diseases) is a term that describes all of the brain white matter diseases, whether their molecular cause is known...
Palmoplantarkeratoderma with deafness, also known as Palmoplantarkeratoderma-deafness syndrome is a rare genetic disorder which is characterized by either...
Siemens, (also known as "acral keratoderma", "mutilating palmoplantarkeratoderma of the Gamborg-Nielsen type", "palmoplantar ectodermal dysplasia type VIII"...
Mutations in the gene encoding this protein cause epidermolytic palmoplantarkeratoderma. GRCh38: Ensembl release 89: ENSG00000171403 – Ensembl, May 2017...
cardiomyopathy, where it may present with acute myocardial injury; striate palmoplantarkeratoderma, Carvajal syndrome and paraneoplastic pemphigus. Desmoplakin exists...
of the name ARVC. ACM can be found in association with diffuse palmoplantarkeratoderma, and woolly hair, in an autosomal recessive condition called Naxos...
Sclerodactyly is also one component of Huriez Syndrome, along with palmoplantarkeratoderma and skin cancer. Sclerodactyly sometimes arises as a complication...
include microcephaly, cerebral dysgenesis, facial dysmorphism, palmoplantarkeratoderma, and ichthyosis. These children usually have a normal intrauterine...
Tylosis may refer to: In medicine Diffuse nonepidermolytic palmoplantarkeratoderma, a skin condition of the palms and soles Howel–Evans syndrome, a skin...
Acrokeratoelastoidosis is a hereditary form of marginal keratoderma, and can be defined as a palmoplantarkeratoderma. It is distinguished by tiny, firm pearly or...
intermittent porphyria, white sponge nevus, ichthyosis, epidermolytic palmoplantarkeratoderma, hereditary benign intraepithelial dyskeratosis and so on. The...
Epidermolytic ichthyosis (EI), is a rare and severe form of ichthyosis that affects around 1 in 300,000 people. It is caused by a genetic mutation, and...
Acral keratoderma may refer to: mal de Meleda Striate palmoplantarkeratoderma This disambiguation page lists articles associated with the title Acral...
the desmosomes. Desmoglein 1 haploinsufficiency leads to striate palmoplantarkeratoderma, a disease which causes extreme thickening of the epidermis. Loss...
Global Information
