Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Exfoliative dermatitis and erythroderma in infancy are rare. Clinicians need to be alert to the possible diagnosis of Omenn's syndrome (OS), a rare form of combined immunodeficiency in infants presenting with exfoliative dermatitis, erythroderma, recurrent infections, eosinophilia and raised IgE. OS is fatal unless treated by bone-marrow transplantation (BMT). We describe a 3-week-old girl who presented with a widespread scaly erythematous rash and stomatitis, and was initially treated for presumed atopic eczema and primary herpes stomatitis. Aged 3 months, she developed erythroderma, diarrhoea and hepatosplenomegaly associated with eosinophilia, raised serum IgE and low IgG, IgA and IgM levels, abnormal lymphocyte populations and skin histology, consistent with a diagnosis of OS. She remains well 16 months after a human leucocyte antigen-matched bone-marrow transplant from an unrelated donor.
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PMID:Omenn's syndrome: lessons from a red baby. 1849 5

Gianotti-Crosti syndrome (GCS) is a sporadic dermatosis affecting mainly children. It is characterized by multiple, confluent, monomorphic and pruritic pink to red-brown papules or papulovesicles, distributed symmetrically on the face, extensor surfaces of the extremities and buttocks, commonly sparing the trunk, palms and soles. This can be preceded by a viral infection, and may be accompanied by fever, hepatosplenomegaly, or lymphadenopathy. Personal and family history of atopy appears to be a risk factor in the subsequent development of GCS, thus frequently diagnosed as atopic dermatitis. We report a case of a 4-year-old boy from our institution with generalized, pruritic, papulovesicular rashes on the face and extremities for one month. He was diagnosed to have atopic dermatitis and treated as such, before presentation to our institution. As the signs and symptoms in GCS are similar to atopic dermatitis, we suggest that this diagnosis be considered when presented with a similar case.
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PMID:Gianotti-Crosti syndrome: case report of a pruritic acral exanthema in a child. 2287 25