Gene/Protein Disease Symptom Drug Enzyme Compound
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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.
Pediatr Dermatol 1988 Feb
PMID:Infantile myofibromatosis: a review of clinicopathology with perspectives on new treatment choices. 328 83

A 3-month-old child with a grossly symmetrical monomorphic papular acral-located skin eruption, a voluminous lymphadenopathy post-BCG vaccination, and hepatomegaly was seen. The diagnoses of Gianotti-Crosti's syndrome and generalized tuberculous infection have been discarded. The appearance of these lesions 48 hours after a tuberculin patch test, their tuberculoid structure, and the absence of any systemic involvement favored the diagnosis of papular tuberculids, a rarely reported complication of BCG vaccination.
Int J Dermatol 1987 Jun
PMID:Papular tuberculids post-BCG vaccination. 361 Apr 34

A 17-year-old Japanese boy was found to have ataxia, generalized angiokeratomas, skeletal deformities, visual impairment, and macular cherry-red spots, without hepatomegaly, splenomegaly, or renal failure. Laboratory examination disclosed a deficiency of beta-galactosidase as well as of neuraminidase activity in the leukocytes and fibroblasts, while alpha-galactosidase and alpha-L-fucosidase activities were normal. On electron microscopic examination, numerous cytoplasmic vacuoles containing flocculated material were found in the vascular endothelial cells, histiocytes, perineurial cells, and Schwann's cells.
Arch Dermatol 1984 Oct
PMID:beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum. 643 42

An 8-week-old girl was seen because of firm, blue cutaneous nodules. A biopsy showed neuroblastoma. When rubbed, the nodules blanched and were surrounded with a halo of erythema. She had Horner's syndrome, hepatomegaly, bone marrow and shaft invasion, and a high thoracic mass with signs of spinal cord compression. Blanching cutaneous nodules are a unique finding in neuroblastoma and may be the first sign of this disease.
J Am Acad Dermatol 1982 Mar
PMID:Infantile neuroblastoma presenting with cutaneous blanching nodules. 706 66

A case report is presented of a young woman in whom symptomatic porphyria cutanea tarda (PCT) developed during copper chelation therapy for Wilson's disease. The 22 year old white woman was seen in the summer of 1978 because of development of blisters on the dorsa of the hands associated with focal atrophic hypopigmentation, generalized hyperpigmentation of the skin, and hpertrichosis of the lateral forehead and face. A sibling had died in childhood with Wilson's disease. When the patient developed hepatomegaly, ascites, and an acute hepatitis syndrome at the age of 11, penicillamine therapy was empirically started, with gradual symptomatic improvement. When evaluated at the age of 22, abnormal laboratory values included a total bilirubin of 1.2 mg%; alkaline phosphatase, 96 U; serum glutamic oxaloacetic transaminase (SGOT), 175 U; serum glutamic pyruvic transaminase (SGPT), 122 U; gamma glutamyl trans peptidase (GGTP), 64 U; and Bromsulphalein (BSP) retention, 21% at 45 minutes. Skin biopsy from the hand revealed a noninflammatory subepidermal bulla with prominently PAS positive vessel walls in the festooned dermal papillae at the base of the blister. A fragmented liver biopsy failed to reveal evidence of active hepatitis or cirrhosis, but considerable stainable iron was present in both hepatocytes and Kupffer cells. A rubeanic acid stain for copper was negative. The patient was diagnosed as having Wilson's disease, hepatic hemosiderosis, and PCT. Cessation of all ethanol consumption and discontinuation of the oral contraceptives which she had been taking for 6 years, was recommended. On examination 9 and 22 months after these modifications were instituted, the patient felt asymptomatic and was without evidence of any new blisters or scars of her skin. The hyperpigmentation and hypertrichosis persisted, but she rigidly adhered to a program of penicillamine, topical sunscreen application, and abnegation of alcohol. Liver function studies were normal, and urinary porphyrin levels returned toward normal values. The clinical onset of this patient's blistering disease was temporally associated with ethanol and exogenous estrogen medication.
J Am Acad Dermatol 1981 Jan
PMID:Porphyria cutanea tarda complicating Wilson's disease. 720 91

The original TORCH complex described clinically similar congenital infections caused by Toxoplasma gondii, rubella virus, cytomegalovirus, and herpes simplex virus, types 1 and 2. Cutaneous manifestations, including petechiae, purpura, jaundice, and dermal erythropoiesis, are commonly seen in toxoplasmosis, rubella, and cytomegalovirus infections. In herpes simplex virus infections, 80% of symptomatic infants show single or grouped cutaneous vesicles, oral ulcers, or conjunctivitis. Extracutaneous signs and symptoms are variable and can be severe. Significant clinical signs in congenital toxoplasmosis include diffuse intracerebral calcification, chorioretinitis, and microcephaly; congenital rubella can result in deafness, congenital heart disease, retinopathy, and brain calcification. Cytomegalic inclusion disease can include hepatomegaly, splenomegaly, paraventricular calcification, and intrauterine growth retardation. Localized or disseminated congenital herpes virus infection often involves the central nervous system and the eye. Diagnosis is confirmed by culture and identification of species-specific immunoglobulin M within the first 2 weeks of life. Histological examination contributes to the diagnosis in herpes simplex virus infection. Treatment for toxoplasmosis includes pyrimethamine with sulfadiazine or trisulfapyrimidine; congenital herpes simplex virus infection is treated with acyclovir. No specific therapy for congenital rubella or cytomegalovirus infections has been established, and so treatment is primarily supportive.
Semin Dermatol 1995 Jun
PMID:TORCH syndrome. 764 Feb

Penicillium marneffei infection has emerged as a new potential indicator disease for AIDS in Southeast Asia. We report two additional cases of P. marneffei infection in patients infected with HIV who had traveled to endemic areas and review the mucocutaneous features of previously reported cases. Our two patients had many of the typical features associated with invasive infection: fever, weight loss, anemia, lymphadenopathy, hepatomegaly, pulmonary and gastrointestinal symptoms, as well as skin manifestations such as papular molluscum contagiosum-like lesions and oral lesions. Knowledge of cutaneous signs is important for prompt diagnosis of P. marneffei infection and institution of life-saving therapy with antifungal agents.
J Am Acad Dermatol 1994 Nov
PMID:Penicilliosis marneffei infection in AIDS. 796 32

A 9-year-old boy of Greek-Cypriot origin had been diagnosed at the age of 3 years as suffering from non-bullous ichthyosiform erythroderma. However, he also had hepatomegaly and abnormal liver function tests, biochemical evidence of myopathy, early cataracts, and lipid vacuoles in white blood cells and basal keratinocytes. A diagnosis of neutral lipid (triglyceride) storage disease was confirmed by lipid studies on cultured fibroblasts.
Br J Dermatol 1994 Apr
PMID:Neutral lipid storage disease. Case report and lipid studies. 818 19

A 26-year-old woman developed partial lipoatrophy 12 years after juvenile dermatomyositis was diagnosed. Renal function was normal, but she had other features typically associated with partial lipoatrophy, including hepatomegaly, acanthosis nigricans, hypertrichosis, and hyperinsulinemia.
J Am Acad Dermatol 1993 Feb
PMID:Juvenile dermatomyositis associated with partial lipoatrophy. 843 56

A 34-year-old woman with an abnormal maternal serum screening result and a Down syndrome risk of 1:60 calculated from a maternal serum alpha-fetoprotein (AFP) value of 1.4 multiples of the median (MoM) and a human chorionic gonadotrophin (hCG) level of 4.32 MoM at 18 weeks' gestation was found to have isolated fetal ascites at 23 weeks' gestation. Spontaneous resolution occurred 10 weeks after the initial presentation. After birth, the neonate had generalized cutis marmorata telangiectatica congenita (CMTC), large vascular plaques on the scalp with superficial ulceration and crusts, a small atrial septal defect, a patent ductus arteriosus, hepatomegaly, micrognathia, seizures, an abnormal electroencephalogram, congenital retinal detachment, glaucoma and widely spaced toes. Our patient illustrates that CMTC in utero may be associated with a markedly elevated maternal serum hCG level as well as transitory isolated fetal ascites. However, such associations can be coincidental and further collaborative studies and cases will be necessary before it can be determined that a disproportionately elevated hCG level and transitory isolated fetal ascites are predictive of CMTC in utero.
Br J Dermatol 1997 Feb
PMID:Cutis marmorata telangiectatica congenita associated with an elevated maternal serum human chorionic gonadotrophin level and transitory isolated fetal ascites. 906 48


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