A case report of H‐syndrome from Baghdad Medical City treated with tocilizumab. Issue 12 (19th December 2022)

• Record Type: Journal Article
• Authors: Awadh, Nabaa Ihsan; Gorial, Faiq I.; Hashim, Hashim Talib; Al‐Obaidi, Ahmed Dheyaa; Al‐Obaidi, Mustafa Najah; AlNoori, Ali H.; Aljanabi, Wesal K.
• Is Part Of: Clinical case reports. Volume 10:Issue 12(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-12-19
• Subjects: clubbing -- deafness -- deformities -- H syndrome -- hyperpigmentation -- tocilizumab; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.6775
• Languages: English
• ISSNs: 2050-0904

Abstract

Abstract: This case report presents the first H‐syndrome rarity in Iraq, a 12‐year‐old female patient who was attending the Rheumatology out clinic for progressive hands joint deformities. She has a history of a multi‐systemic collection of diseases with various clinical features that include beta thalassemia minor, sensorineural deafness, and celiac disease. Abstract : H syndrome, also known as histiocytosis‐lymphadenopathy plus syndrome or PHID, is a rare genetic condition caused by mutations in the SLC29A3 gene. This case report presents the first H‐syndrome rarity in Iraq.