IL36RN mutation causing generalized pustular psoriasis in a Palestinian patient. (5th June 2014)

• Record Type: Journal Article
• Authors: Renert‐Yuval, Yael; Horev, Liran; Babay, Sofia; Tams, Spiro; Ramot, Yuval; Zlotogorski, Abraham; Molho‐Pessach, Vered
• Is Part Of: International journal of dermatology. Volume 53:Number 7(2014:Jul.)
• Page Start: 866
• Page End: 868
• Publication Date: 2014-06-05
• Subjects: Dermatology -- Periodicals; 616.5
• DOI: 10.1111/ijd.12525
• Languages: English
• ISSNs: 0011-9059

Abstract

<abstract abstract-type="main" id="ijd12525-abs-0001"> <title>Abstract</title> <p>Deficiency of interleukin‐36 (IL‐36) receptor antagonist (DITRA; OMIM 614204) is a rare autoinflammatory disorder characterized by periodic fever associated with a generalized erythematous and pustular skin rash. A 6‐year‐old Arab‐Palestinian boy presented with a history of periodic fever and unremitting, erythematous, scaly skin rash accompanied by widespread pustules that had been present since the age of one month. The patient's skin lesions were compatible with generalized pustular psoriasis. Sequence analysis revealed a homozygous nonsense mutation, c.28C&gt;T (p.Arg10X) in the <italic>IL36RN</italic> gene. The patient improved with oral methotrexate in combination with oral and topical corticosteroids. The molecular basis for DITRA has only recently been identified, and the mutation spectrum for this disorder in many populations is still obscure. This paper reports the presence of the c.28C&gt;T mutation in an Arab‐Palestinian patient and thus represents the first description of this mutation in a non‐Japanese subject.</p> </abstract>