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Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait
Author(s) -
Nanda Arti,
Liu Lu,
AlAjmi Hejab,
AlSaleh Qasem A.,
AlFadhli Suad,
Anim John T.,
Ozoemena Linda,
Mellerio Jemima E.,
McGrath John A.
Publication year - 2018
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.14099
Subject(s) - medicine , epidermolysis bullosa , subtyping , dermatopathology , sanger sequencing , referral , dermatology , exome sequencing , pediatrics , pathology , mutation , family medicine , gene , genetics , biology , computer science , programming language
Background Epidermolysis bullosa ( EB ) is a clinically and genetically heterogeneous blistering skin disease, but in countries such as Kuwait, there are very limited data on the clinical and molecular pathology of EB . To improve understanding of EB in Kuwait, we report the experience of a local tertiary referral center over a 17.5 year period (January 2000–June 2017) in establishing clinical and molecular diagnoses. Methods Review of hospital records and diagnostic reports. Individual cases were diagnosed by combinations of clinical assessment, skin biopsy (immunohistochemistry and transmission electron microscopy), Sanger sequencing of EB genes, and whole exome sequencing. Results Fifty‐four families with EB were registered with the clinic over this period, 41 of whom (84 patients) participated in diagnostic studies. Thirty‐seven of these 41 families had consanguineous marriages; 34 had recessive forms of EB , while only seven had dominant subtypes. Recurrent mutations were observed in epidermal dystonin, transglutaminase 5, and type VII collagen. Conclusions The prevalence of EB in Kuwait is approximately three times that of internationally cited rates with an over‐representation of autosomal recessive variants. Establishing the molecular basis of EB in Kuwait with accurate diagnostic subtyping provides a basis for determining healthcare requirements and improving patient management of EB .