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)

Generalized lipodystrophy (GLD) is characterized clinically by an almost complete lack of fat in adipose tissue. Traditionally, GLD can be divided into congenital and acquired types according to the clinical course and underlying etiologies. Here, we describe a boy with a probable diagnosis of acquired GLD. He showed recurrent panniculitis since early infancy, and short stature with delayed skeletal age (3 years less) and low levels of insulin-like growth factor-1 (IGF-1) and IGF binding protein-3. Growth hormone (GH) deficiency was confirmed by GH provocative tests (peak GH below 5 microg/L). In addition to slow progressive loss of subcutaneous fat tissue, he also suffered from hepatosplenomegaly, recurrent febrile episodes in association with painful nodular skin lesions and abdominal pain. The diagnosis of lipodystrophic panniculitis was confirmed after skin biopsy. The febrile episodes and skin lesions responded to oral corticosteroid with the progression of time. Acquired GLD with GH deficiency (e.g., recurrent panniculitis) may occur as a result of chronic inflammation over the pituitary stalk and pituitary gland. The use of steroid and GH replacement may alleviate this disorder.
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PMID:Recurrent panniculitis associated with generalized lipodystrophy and growth hormone deficiency. 1609 31