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About 13 results

ALLMedicine™ Acral Peeling Skin Syndrome Center

Research & Reviews  5 results

Exome-based search for recurrent disease-causing alleles in Russian population.
https://doi.org/10.1016/j.ejmg.2019.04.013
European Journal of Medical Genetics; Yanus GA, Akhapkina TA et. al.

Apr 28th, 2019 - Exomes of 27 Russian subjects were analyzed for the presence of medically relevant alleles, such as protein-truncating variants (PTVs) in known recessive disease-associated genes and pathogenic missense mutations included in the ClinVar database. ...

Acral peeling skin syndrome
https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome

Apr 14th, 2016 - Acral peeling skin syndrome is a genetic skin disorder characterized by painless peeling of the top layer of skin. "Acral" refers to the fact that the peeling is most apparent on the hands and feet, although peeling may also occur on the arms and ...

Acral peeling skin syndrome associated with a novel CSTA gene mutation.
https://doi.org/10.1111/ced.12777
Clinical and Experimental Dermatology; Muttardi K, Nitoiu D et. al.

Dec 20th, 2015 - Acral peeling skin syndrome (APSS) is a rare autosomal recessive condition, characterized by asymptomatic peeling of the skin of the hands and feet, often linked to mutations in the gene TGM5. However, more recently recessive loss of function muta...

Keratolysis exfoliativa (dyshidrosis lamellosa sicca): a distinct peeling entity.
https://doi.org/10.1111/j.1365-2133.2012.11175.x
The British Journal of Dermatology; Chang YY, van der Velden J et. al.

Oct 9th, 2012 - Keratolysis exfoliativa (KE), also known as dyshidrosis lamellosa sicca, is a palmoplantar dermatosis characterized by air-filled blisters and collarette desquamation. It has been regarded as a subtype of dyshidrotic eczema, a fungal infection or ...

Acral peeling skin syndrome in two East-African siblings: case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3341202
BMC Dermatology; Kiprono SK, Chaula BM et. al.

Mar 21st, 2012 - Acral peeling skin syndrome is a rare autosomal recessive genodermatosis due to a missense mutation in transglutaminase 5. The skin peeling occurs at the separation of the stratum corneum from the stratum granulosum. We present a case of two sibli...

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