H syndrome (OMIM 602782) is a very rare autosomal recessive genodermatosis with multisystem involvement. Hallmarks of this disorder are juvenile onset and progressive, hyperpigmented, hypertrichotic lesions with histiocytic infiltration. Associated systemic manifestations form a long list, and there is high variability between patients. In some patients, dysmorphic and other systemic features may be so subtle that the disorder may readily be mistaken as an acquired skin disease and treated as such. Herein, we report a novel homozygous c.1339G>A (p.Glu447Lys) mutation in the SLC29A3 gene in a patient with skin-dominant presentation of H syndrome. Additionally, due to the present case, double superior vena cava can be added to the list of possible cardiovascular manifestations of H syndrome.
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H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature.
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October 2024
Department of Hematology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
H syndrome is a rare autosomal recessive genodermatosis that falls under the histiocytosis-lymphadenopathy plus syndrome. The term "H syndrome" 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.
View Article and Find Full Text PDFRheumatological manifestations of H syndrome.
Reumatologia
September 2024
Rheumatology Department B, Al Ayachi Hospital, Ibn Sina Hospital Centre, Mohammed V University, Rabat, Morocco.
Article Synopsis
- H syndrome is a rare genetic condition characterized by skin changes (like hyperpigmentation and excessive hair growth) and affects multiple body systems due to a specific gene mutation.
- A case study of a 24-year-old Moroccan male with insulin-dependent diabetes shows various symptoms, including skin issues and musculoskeletal problems like foot abnormalities and joint contractures.
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August 2024
Department of Dermatology Faculty of Medicine and Pharmacy, Mohammed VI University Hospital, Cadi Ayyad University, Marrakesh, Morocco.
A 19-year-old girl presented with symmetric and bilateral hyperpigmentation, an indurated lesion that initially appeared on the axillary fold at the age of 14, which then extended to the lower back, anterior aspect of both thighs, and popliteal fold. No hypertrichosis was observed (Figure 1).The patient was the youngest of the four children, born from the first-degree consanguineous marriage.
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Laboratory Sciences Research Center, Golestan University of Medical Sciences, Gorgan, Iran.
Background: The SLC29A3 gene, which encodes a nucleoside transporter protein, is primarily located in intracellular membranes. The mutations in this gene can give rise to various clinical manifestations, including H syndrome, dysosteosclerosis, Faisalabad histiocytosis, and pigmented hypertrichosis with insulin-dependent diabetes. The aim of this study is to present two Iranian patients with H syndrome and to describe a novel start-loss mutation in SLC29A3 gene.
View Article and Find Full Text PDFCardiac mass as the primary diagnostic clue of Edheim-Chester disease.
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Echocardiography Research Center, Rajaie Cardiovascular Medical and Research Center Iran University of Medical Sciences Tehran Iran.
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