386 Novel FERMT1 mutations in Kindler syndrome and its association with adermatoglyphia
نویسندگان
چکیده
منابع مشابه
Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
Kindler syndrome (OMIM 173650) is an autosomal recessive condition characterized by skin blistering, skin atrophy, photosensitivity, colonic inflammation and mucosal stenosis. Fewer than 100 cases have been described in the literature. First reported in 1954, the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT1 (KIND1) loss-of-function mutations in affecte...
متن کاملIs adermatoglyphia an additional feature of Kindler Syndrome?*
A typical feature of Kindler Syndrome is skin fragility; this condition in currently classified as a form of epidermolysis bullosa. We describe a rarely reported feature of two cases, one sporadic and one familial; both patients noticed acquired adermatoglyphia. The loss of dermatoglyphics could be an additional feature of this syndrome.
متن کاملthe past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group
چکیده ندارد.
Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome
Vol. 28, No. 4, 2016 503 Received May 8, 2015, Revised July 25, 2015, Accepted for publication July 27, 2015 Corresponding author: Soo-Chan Kim, Department of Dermatology, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-ro, Gangnam-gu, Seoul 06273, Korea. Tel: 82-2-2019-3362, Fax: 82-2-3463-6136, E-mail: [email protected] This is an Open Access article distributed under...
متن کاملSporadic Kindler Syndrome with a novel mutation*
We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2016
ISSN: 0022-202X
DOI: 10.1016/j.jid.2016.02.419