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Published on: October 12, 2012
IL36RN mutation causing generalized pustular psoriasis in a Palestinian patient
Yael Renert-Yuval1, Liran Horev, Sofia Babay
1Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Insights
Deficiency of interleukin-36 receptor antagonist (DITRA) is a rare autoinflammatory disease. A novel mutation in the IL36RN gene was identified in an Arab-Palestinian child with generalized pustular psoriasis, expanding the known mutation spectrum.
Area of Science:
- Genetics and immunology
- Autoinflammatory diseases
- Dermatology
Background:
- Deficiency of interleukin-36 receptor antagonist (DITRA) is a rare autoinflammatory disorder.
- Characterized by recurrent fevers and severe skin manifestations like pustular psoriasis.
- The genetic basis and population-specific mutation spectrum of DITRA are not fully understood.
Observation:
- A 6-year-old Arab-Palestinian boy presented with early-onset, persistent fever and generalized pustular rash.
- Clinical presentation was consistent with generalized pustular psoriasis.
- Genetic analysis revealed a homozygous nonsense mutation (c.28C>T; p.Arg10X) in the IL36RN gene.
Findings:
- The identified mutation (c.28C>T) in the IL36RN gene is associated with DITRA.
- This represents the first report of this specific mutation in a non-Japanese individual.
- The patient showed clinical improvement with methotrexate and corticosteroid therapy.
Implications:
- This finding expands the known mutation spectrum for DITRA in diverse populations.
- Highlights the importance of genetic testing for IL36RN mutations in patients with severe pustular skin conditions.
- Contributes to a better understanding of the genetic underpinnings of autoinflammatory disorders.
Abstract:
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>T (p.Arg10X) in the IL36RN 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>T mutation in an Arab-Palestinian patient and thus represents the first description of this mutation in a non-Japanese subject.
