| Kindler syndrome. | |
| | |
MedLine Citation:
|
PMID: 19945624 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Kindler syndrome (MIM173650) is an autosomal recessive genodermatosis characterized by poikiloderma, trauma-induced skin blistering, mucosal inflammation, and photosensitivity. Loss-of-function mutations in the FERMT1 gene are the cause of Kindler syndrome. Kindler syndrome is categorized as a subtype of epidermolysis bullosa (EB). During infancy and childhood, there is clinical overlap between Kindler syndrome and dystrophic EB. Unlike other forms of EB, Kindler syndrome is characterized by impaired actin cytoskeleton-extracellular matrix interactions and a variable plane of blister formation at or close to the dermal-epidermal junction. This article reviews clinicopathologic and molecular features of Kindler syndrome and discusses patient management. |
| | |
Authors:
|
Joey E Lai-Cheong; John A McGrath |
Related Documents
:
|
16028794 - Audiological and vestibular features in affected subjects with ush3: a genotype/phenoty... 12781594 - Unusual phenotypic expression of the dyt1 mutation. 20428734 - Mowat-wilson syndrome: the first two malaysian cases. 18553554 - Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new ... 17312144 - Requirement for a complex of wiskott-aldrich syndrome protein (wasp) with wasp interact... 8621134 - Absence of the canalicular isoform of the mrp gene-encoded conjugate export pump from t... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
|
Title: Dermatologic clinics Volume: 28 ISSN: 1558-0520 ISO Abbreviation: Dermatol Clin Publication Date: 2010 Jan |
Date Detail:
|
Created Date: 2009-11-30 Completed Date: 2010-02-17 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8300886 Medline TA: Dermatol Clin Country: United States |
Other Details:
|
Languages: eng Pagination: 119-24 Citation Subset: IM |
Affiliation:
|
Division of Genetics and Molecular Medicine, St John's Institute of Dermatology, King's College London, Floor 9 Tower Wing, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Atrophy Blister / metabolism, pathology Dermis / metabolism, pathology* Epidermis / metabolism, pathology* Epidermolysis Bullosa / metabolism, pathology*, therapy Humans |
| Grant Support | |
ID/Acronym/Agency:
|
//Wellcome Trust |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function.
Next Document: Ectodermal dysplasia-skin fragility syndrome.