Histiocytosis-lymphadenopathy plus syndrome is an autosomal recessive disorder caused by mutations of the SLC29A3 gene. The disease has numerous variable features whose common denominator is histocytosis that's why the short term H syndrome is preferred now.
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Colmenero I et. al. (2012) Emperipolesis: an additional common histopathologic finding in H syndrome and Rosai-Dorfman disease. |
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Molho-Pessach V et. al. (2008) The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. |
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Hamadah IR et. al. (2006) Autosomal recessive plasma cell panniculitis with morphea-like clinical manifestation. |
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None (1994) Histiocytes and histiocytosis. |
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Campeau PM et. al. (2012) Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. |
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Bolze A et. al. (2012) A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. |
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Jonard L et. al. (2012) Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype. |
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Avitan-Hersh E et. al. (2011) A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease. |
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Spiegel R et. al. () Expanding the clinical spectrum of SLC29A3 gene defects. |
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Moynihan LM et. al. (1998) Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness. |
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Molho-Pessach V et. al. (2010) The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. |
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Cliffe ST et. al. (2009) SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. |
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Hussain K et. al. (2009) Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome. |
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de Pontual L et. al. (2008) Rhinoscleroma: a French national retrospective study of epidemiological and clinical features. |
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Molho-Pessach V et. al. (2008) The H syndrome is caused by mutations in the nucleoside transporter hENT3. |
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Prendiville J et. al. () Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder? |
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Marina S et. al. () POEMS in childhood. |
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Rossbach HC et. al. (2006) Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness. |
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Kismet E et. al. (2005) Sinus histiocytosis with massive lymphadenopathy in three brothers. |