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H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature.
Hematol Oncol Stem Cell Ther
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 PDFCombination of four features of SLC29A3 spectrum disorder in a child: A case report.
Pediatr Dermatol
September 2024
Student Research Committee, Isfahan University of Medical Sciences, Isfahan, Iran.
SLC29A3 spectrum disorder, also known as histiocytosis-lymphadenopathy plus syndrome (HLPS), presents a wide variety of multi-systemic manifestations that can be mistaken for other conditions. Herein, we report a 9-year-old girl who presented with a complex clinical presentation since birth, including chronic generalized lymphadenopathy in association with hepatosplenomegaly, short stature, flexion contractures, hearing loss, hyperpigmentation, and heart anomalies. She was ultimately diagnosed with the SLC29A3 spectrum disorder.
View Article and Find Full Text PDFIntroduction: Pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID) syndrome is a rare disease, and part of the cluster Histiocytosis-lymphadenopathy plus syndrome (H syndrome), which is associated with mutations in the SLC29A3 gene. Patients with PHID show clinical features of H syndrome, but also have insulin-dependent diabetes mellitus. The PHID associated diabetes has previously been described as predominantly in absence of pancreatic autoantibodies.
View Article and Find Full Text PDFA Rare Autoimmune Disease Detected in the Differential Diagnosis of Immunodeficiency: Histiocytosis-lymphadenopathy Plus Syndrome.
Iran J Allergy Asthma Immunol
September 2023
Department of Pediatric Allergy and Immunology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey.
Article Synopsis
- Mutations in the SLC29A3 gene are responsible for histiocytosis-lymphadenopathy plus (H) syndrome, a rare genetic condition that affects multiple organ systems.
- A case study of a 7-year-old Syrian patient reveals that treatment did not successfully reduce inflammation, highlighting the complexity of managing H syndrome.
- Early genetic testing and increased awareness among doctors are crucial for accurate diagnosis and effective treatment of H syndrome, as it presents a wide range of symptoms that may be mistaken for autoimmune diseases.
Renal Involvement in H Syndrome, A Rare Cause of Diabetes Mellitus: Case Report.
Endocr Metab Immune Disord Drug Targets
May 2023
Intergen Genetics and Rare Diseases Diagnosis Research & Application Center, Ankara, Turkey.
Background: H syndrome is a rare genodermatosis deriving from a mutation in the SLC29A3 gene and affecting numerous systems, particularly the skin. The syndrome exhibits different clinical characteristics involving several systems, most beginning with the letter "H." The most common clinical findings are cutaneous hyperpigmentation, flexion contracture in the fingers, hearing loss, short stature, insulin-dependent diabetes mellitus, heart anomalies, hepatosplenomegaly, and hypogonadism.
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