Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The fibromatoses are a heterogeneous group of disorders characterized by proliferation of fibroblasts. Infantile myofibromatosis is a variant that is distinctive because of its multicentric origin, appearance at birth, and cellular composition, which is predominantly myofibroblasts. We treated a patient with infantile myofibromatosis with the interesting clinical presentation of a linear lesion involving the left arm and shoulder, and aggressive hepatomegaly with jaundice secondary to fibroblastic infiltration of the common bile duct and gallbladder. Diagnosis was confirmed histologically and ultrastructurally. Excision of the cutaneous lesion was facilitated by tissue expansion of uninvolved regional tissue.
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PMID:Infantile myofibromatosis: a review of clinicopathology with perspectives on new treatment choices. 328 83

This article presents a case report of a 37-week gestational age (GA) female infant (CK) whose first ultrasound at 35 weeks' GA revealed polyhydramnios, fetal ascites, and a possible diaphragmatic hernia. At birth, CK had a grossly distended abdomen, prominent abdominal veins, hepatomegaly, bounding femoral pulses, and generalized edema. Initial imaging identified an absent ductus venosus, absent segment of the inferior vena cava (IVC), and prominent superior vena cava to the right atrium. A computed tomography (CT) scan showed a mass contiguous with the liver causing compression of the IVC. Biopsy confirmed infantile myofibromatosis (IM), an uncommon soft tissue neoplasm that may present at birth or in early infancy. Although rare, this neoplasm is the most common fibrous tumor of infancy. The case of CK was unusual because the solitary IM lesion was in an atypical location; a solitary lesion is not commonly found in the viscera, and solitary lesions are predominant in males. Although lesions are often benign, visceral involvement is associated with high mortality. The cause is unknown, although familial cases have been reported. This article describes the key features of IM, possible treatment options, nursing care, and prognosis for infants with the disease.
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PMID:Infantile myofibroma: a case report and review of the literature. 1830 Jul 34