Literature DB >> 24478233

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.

Marie T Greally1, Neale N Kalis, Wahid Agab, Kasim Ardati, Sanda Giurgea, Uwe Kornak, Lionel Van Maldergem.   

Abstract

Through a survey of more than 20 patients with a specific subgroup of autosomal recessive congenital cutis laxa (ARCL), namely ATP6V0A2-related cutis laxa, we noted that the clinical findings on three patients included pretibial pseudo-ecchymotic skin lesions very similar to those found in classical Ehlers-Danlos syndrome. The finding is apparently age-related, occurring during the second decade in two of the three patients.
© 2014 Wiley Periodicals, Inc.

Entities:  

Keywords:  ATP6V0A2-related cutis laxa; Ehlers-Danlos-like skin lesions; autosomal recessive cutis laxa; type 2A (ARCL2A)

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Substances:

Year:  2014        PMID: 24478233     DOI: 10.1002/ajmg.a.36411

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  4 in total

1.  Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.

Authors:  Rony Cohen; Ayelet Halevy; Sharon Aharoni; Dror Kraus; Osnat Konen; Lina Basel-Vanagaite; Hadassa Goldberg-Stern; Rachel Straussberg
Journal:  Neurogenetics       Date:  2016-09-08       Impact factor: 2.660

Review 2.  Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.

Authors:  Aude Beyens; Lore Pottie; Patrick Sips; Bert Callewaert
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

Review 3.  Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.

Authors:  Ariana Kariminejad; Fariba Afroozan; Bita Bozorgmehr; Alireza Ghanadan; Susan Akbaroghli; Hamid Reza Khorram Khorshid; Faezeh Mojahedi; Aria Setoodeh; Abigail Loh; Yu Xuan Tan; Nathalie Escande-Beillard; Fransiska Malfait; Bruno Reversade; Thatjana Gardeitchik; Eva Morava
Journal:  Int J Mol Sci       Date:  2017-03-15       Impact factor: 5.923

4.  Population genomics of wild Chinese rhesus macaques reveals a dynamic demographic history and local adaptation, with implications for biomedical research.

Authors:  Zhijin Liu; Xinxin Tan; Pablo Orozco-terWengel; Xuming Zhou; Liye Zhang; Shilin Tian; Zhongze Yan; Huailiang Xu; Baoping Ren; Peng Zhang; Zuofu Xiang; Binghua Sun; Christian Roos; Michael W Bruford; Ming Li
Journal:  Gigascience       Date:  2018-09-01       Impact factor: 6.524

  4 in total

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