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- W2978375892 abstract "Abstract Background Introduction H syndrome is a rare inherited form of histiocytosis. It is an autosomal recessive disorder caused by a mutation in SLC29A3 gene resulting in histiocytic infiltration of numerous organs. It becomes clinically apparent mostly during childhood with characteristic hyperpigmented hypertrichotic indurated skin lesions that mainly involve the lower limbs. Other reported features include Sensorineural hearing loss, heart anomalies, hepatosplenomegaly, lymphadenopathy, insulin dependent diabetes mellitus and flexion contractions of interphalangeal joints. We report sacroiliitis, a possible new feature, in a young girl diagnosed with H syndrome. Methods We report the case of a 16 year-old Syrian girl diagnosed to have H syndrome presented with inflammatory polyarthritis, bilateral sacroiliitis and bilateral anterior uveitis. She was managed with methotrexate and adalimumab with significant improvement. Results The findings in our patient raise the question whether she truly has a rheumatic illness beside H syndrome, or merely represent newly recognized manifestation of H syndrome. Conclusion H syndrome is a recently recognised autosomal recessive condition with characteristic dermatologic and systemic manifestation. Along with arthritis, sacroiliitis and uveitis could represent part of the phenotypic description of this rare entity. Conflicts of Interest The authors declare no conflicts of interest." @default.
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- W2978375892 date "2019-09-30" @default.
- W2978375892 modified "2023-09-24" @default.
- W2978375892 title "P52 Bilateral sacroiliitis in a patient with H syndrome" @default.
- W2978375892 doi "https://doi.org/10.1093/rheumatology/kez416.019" @default.
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