H Syndrome Masquerade as Rheumatologic Disease (Case Report)

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Razmyar Mohammad; REZAIEYAZDI ZAHRA; Tayebi Meibodi Naser; FAZEL ZAHRA; LAYEGH POURAN

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Journal Paper

Paper Information

Journal: Journal of Pediatric Perspectives Year:2018 | Volume:6 | Issue:7 (55) Page(s): 79657971-

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Title

H Syndrome Masquerade as Rheumatologic Disease (Case Report)

Author(s)

Keywords

Children

H syndrome

Genodermatosis

SLC29A3 gene mutation.

Abstract

Background H syndrome is an autosomal recessive Genodermatosis with a low prevalence which is caused by a mutation in SLC29A3 gene. This disorder is characterized by sclerotic, hyperpigmented, hypertrichotic cutaneous plaques with systemic involvement including: hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycemia. Case Presentation Here we have presented two cases of H syndrome that have been misdiagnosed and mismanaged as rheumatologic disease. The first case had been represented with sclerotic skin lesions and diagnosed as morphea, and second one with chronic and recalcitrant to treatment arthritis as juvenile idiopathic arthritis. Conclusion H syndrome is an autosomal recessive Genodermatosis that has been recently recognized with a variety of manifestations and overlapping features with other diseases. Increase the knowledge of physicians for wide spectrum manifestations of this syndrome along with reporting the misdiagnosis of this condition can increase the accuracy of physicians for its better identification. This time our cases masquerade as rheumatologic diseases.

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APA: Copy

Razmyar, Mohammad, REZAIEYAZDI, ZAHRA, Tayebi Meibodi, Naser, FAZEL, ZAHRA, & LAYEGH, POURAN. (2018). H Syndrome Masquerade as Rheumatologic Disease (Case Report). INTERNATIONAL JOURNAL OF PEDIATRICS, 6(7 (55)), 79657971-. SID. https://sid.ir/paper/337548/en

Vancouver: Copy

Razmyar Mohammad, REZAIEYAZDI ZAHRA, Tayebi Meibodi Naser, FAZEL ZAHRA, LAYEGH POURAN. H Syndrome Masquerade as Rheumatologic Disease (Case Report). INTERNATIONAL JOURNAL OF PEDIATRICS[Internet]. 2018;6(7 (55)):79657971-. Available from: https://sid.ir/paper/337548/en

IEEE: Copy

Mohammad Razmyar, ZAHRA REZAIEYAZDI, Naser Tayebi Meibodi, ZAHRA FAZEL, and POURAN LAYEGH, “H Syndrome Masquerade as Rheumatologic Disease (Case Report),” INTERNATIONAL JOURNAL OF PEDIATRICS, vol. 6, no. 7 (55), pp. 79657971–, 2018, [Online]. Available: https://sid.ir/paper/337548/en

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