{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:35:36Z","timestamp":1787841336623,"version":"build-2784847793"},"reference-count":49,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:p>H syndrome is a rare autosomal recessive genodermatosis that falls under the histiocytosis-lymphadenopathy plus syndrome. The term \u201cH syndrome\u201d includes manifestations such as hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally hyperglycemia. The syndrome is associated with mutations in the SLC29A3 gene, which encodes the human equilibrative transporter 3 present in endosomes, lysosomes, and mitochondria. The generalized and ubiquitous presence of affected lysosomes and mitochondria contributes to the systemic and phenotypically heterogeneous manifestations of the syndrome. H syndrome manifestations are cutaneous, systemic, and organ-specific. The pathognomonic signs are hypertrichosis and hyperpigmentation in the inner thighs and shins. However, not all patients present with these symptoms. H syndrome management involves a multidisciplinary approach to address specific symptoms and complications. The prognosis of H syndrome depends on several factors, including the extent and severity of clinical manifestations, the presence of complications, and timely diagnosis and management. Further studies are needed to explore the association between prognosis and the different mutations encountered in H syndrome.<\/jats:p>","DOI":"10.4103\/hemoncstem.hemoncstem-d-24-00004","type":"journal-article","created":{"date-parts":[[2024,12,11]],"date-time":"2024-12-11T15:51:34Z","timestamp":1733932294000},"page":"159-167","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":5,"title":["H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature"],"prefix":"10.4103","volume":"17","author":[{"given":"Alaa","family":"Hamad","sequence":"first","affiliation":[{"name":"College of Medicine, Alfaisal University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadeel","family":"Elwaheidi","sequence":"additional","affiliation":[{"name":"College of Medicine, Alfaisal University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farah","family":"Salameh","sequence":"additional","affiliation":[{"name":"College of Medicine, Alfaisal University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mossaed","family":"Alyahya","sequence":"additional","affiliation":[{"name":"Department of Oncology and Neuroscience, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riad","family":"El Fakih","sequence":"additional","affiliation":[{"name":"College of Medicine, Alfaisal University, Riyadh, Saudi Arabia"},{"name":"Department of Hematology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud","family":"Aljurf","sequence":"additional","affiliation":[{"name":"Department of Hematology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2024,10,4]]},"reference":[{"issue":"(5)","key":"R1-20241226","doi-asserted-by":"crossref","first-page":"e238973","DOI":"10.1136\/bcr-2020-238973","article-title":"\u2018H-syndrome\u2019: a multisystem genetic disorder with cutaneous clues","volume":"14","author":"Mori","year":"2021","journal-title":"BMJ Case Rep"},{"issue":"(4)","key":"R2-20241226","first-page":"405","article-title":"A rare autoimmune disease detected in the 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