Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042109 (urticaria)
 6,569 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autoimmune lymphoproliferative syndrome is a disorder due to a defect of lymphocyte apoptosis, whose clinical manifestations consist of hyperplasia of lymphoid tissues and autoimmune diseases. We report on a 26-month-old child who presented with frequent eruptions of weals and angioedema without any apparent triggering factor, who subsequently developed an erythematopapular rash with a histological pattern of a lymphoplasmacellular infiltrate. Familial anamnesis revealed a history of lymphoadenomegaly and massive spleen and liver enlargement in her sister. Functional and molecular analysis led to a diagnosis of type 1a autoimmune lymphoproliferative syndrome. Immunophenotyping of the cutaneous lesion revealed the presence of an inflammatory infiltrate with a considerably high number of Langerhans cells. Cutaneous features such as urticaria, angioedema and vasculitis in children with a personal and familial history of hyperplasia of lymphoid tissues may be a presenting sign of a systemic disease, such as autoimmune lymphoproliferative syndrome.
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PMID:Cutaneous manifestations as presenting sign of autoimmune lymphoproliferative syndrome in childhood. 1594 24

Schnitzler's syndrome comprises urticaria, monoclonal gammapathy, inflammatory signs (fever, enlarged lymph nodes, hyperleukocytosis), and bone lesions. We report the imaging findings and follow-up of a new case with extensive osteosclerosis of the iliac bone, associated with inflammatory signal changes on MRI and foci of increased uptake on bone scintigraphy. When a diagnosis of Schnitzler's syndrome is established, treatment should be towards symptoms only; a long follow-up is warranted, as a delayed evolution towards a lymphoproliferative syndrome is possible.
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PMID:Schnitzler's syndrome: 3-year radiological follow-up. 1660 13