Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy
Summary Consanguinity is known to be associated with an increase in the prevalence of autosomal recessive disorders such as autosomal recessive congenital ichthyosis (ARCI). ARCI often responds well to retinoid treatment. We describe a patient with ARCI who improved under isotretinoin treatment. The...
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Published in | Clinical and experimental dermatology Vol. 41; no. 4; pp. 390 - 393 |
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Main Authors | , , , , , , , |
Format | Journal Article |
Language | English |
Published |
England
Blackwell Publishing Ltd
01.06.2016
Oxford University Press |
Subjects | |
Online Access | Get full text |
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Summary: | Summary
Consanguinity is known to be associated with an increase in the prevalence of autosomal recessive disorders such as autosomal recessive congenital ichthyosis (ARCI). ARCI often responds well to retinoid treatment. We describe a patient with ARCI who improved under isotretinoin treatment. The patient subsequently developed elevated levels of serum creatinine phosphokinase (CPK), which led to the diagnosis of a second autosomal recessive disorder, dysferlinopathy, a rare myopathy characterized by muscle weakness, decreased tendon reflexes and marked elevation of CPK levels. This report demonstrates the need for physicians to remain alert to the possible coexistence of rare and mutually relevant disorders in populations with a high rate of consanguinity. |
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Bibliography: | ArticleID:CED12774 ark:/67375/WNG-865QFZ1D-M Generous donation of the Ram family istex:3C8A1F234FD221DFB03441DDD71E485A85877F12 ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 0307-6938 1365-2230 |
DOI: | 10.1111/ced.12774 |