Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019625 (Rosai-Dorfman disease)
 763 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sinus histiocytosis with massive lymphadenopathy (SHML), or Rosai-Dorfman Disease, presents with bilateral painless cervical adenomegaly, fever, and several hematologic abnormalities. Skin is the extranodal site most frequently affected. We described four additional cases of SHML limited to the skin, emphasizing possible confusion with other dermatoses. Clinical, morphologic, and immunohistochemical aspects of four patients with cutaneous SHLM, three diagnosed in the ABC Medical Center in Mexico City and the other at the Hermanos Ameijeiras Hospital of Havana, Cuba, are reviewed. Three males and one female, 48, 35, 42, and 55 years of age, presented with chronic asymptomatic dermal nodules, papules, or plaques on trunk, extremities, and face. Skin biopsies showed dense infiltrates of foamy histiocytes, lymphocytes, and plasma cells; histiocytes presented with prominent emperipolesis and intense S100 and CD68 immunostain. The four cases reported here had histiocytic benign proliferative disorder corresponding with cutaneous SHML: Emperipolesis suggested the diagnosis. Immunohistochemistry demonstrated positivity for S100 protein in macrophages. Cutaneous lesions of SHML are easily recognized when they are found in the classical clinical picture, but as purely skin disease could be confused with other dermatoses.
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PMID:[Rosai-Dorfman disease limited to the skin. Four case reports]. 1266 3

Accumulating evidence reveals that sole mutations in hENT3 cause a spectrum of human genetic disorders. Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndrome, characterized by autoantibody-negative diabetes mellitus and skin deformities, familial Rosai-Dorfman disease, characterized by short stature, familial histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), characterized by severe tissue infiltration of immune cells and swollen lymph nodes. hENT3 spectrum disorders share a common mutation and share overlapping clinical manifestations that display many intriguing resemblances to mitochondrial and lysosomal disorders. Although earlier studies identify hENT3 as a mitochondrial and a lysosomal nucleoside transporter, the precise connections between hENT3 and the pathophysiology of these disorders remain unresolved. In this study, we performed functional and biochemical characterization of these mutations in hENT3. We report severe reductions/losses of hENT3 nucleoside transport functions of hENT3 syndrome mutants. In addition to transport alterations, we provide evidence for possible loss of hENT3 functions in all H and pigmented hypertrichotic dermatosis with insulin-dependent diabetes syndromes due to either mistrafficking or altered stability of mutant hENT3 proteins.
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PMID:Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability. 2059 84