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)

A 65-year-old black female with Sezary syndrome had generalized intractable pruritus, erythroderma, alopecia, onychogryphosis, lumphadenopathy and hepatomegaly. Abnormal lymphocytes with large, convoluted and grooved nuclei (Sezary cells) were identified in the skin and peripheral blood. A striking feature of her disease was severe, deforming arthropathy of the hands and knees, a clinical finding which has been described previously in only one patient with Sezary syndrome. At necropsy no associated lymphoma was found.
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PMID:Sezary syndrome with arthropathy. Report of a case. 5 75

A male patient presented with a congenital ichthyosis clinically characterized by generalized erythroderma, fine scaling on the trunk and palmoplantar hyperkeratoses with severely affected nails. The acanthotic epidermis was characterized by hyperproliferation with a large quantity of mitoses and extremely suppressed keratinization without a normal granular layer. The horny layer was parakeratotic and contained remnants of cell debris and lipid droplets. Ultrastructurally the prickle cell layer was characterized by binuclear cells, oedematization of the keratinocytes and isolated dyskeratotic cells. Some suprabasal cells showed unusual morphological features, containing nuclei with cytoplasmic pseudoinclusions, sometimes leading to a complete disintegration of the nuclear structure, and bowl- and lens-shaped accumulations of a filamentous material. Instead of normal tonofibrils, the aggregated material consisted of fine interlacing filaments. The latter are compared with the filamentous shells in ichthyosis hystrix Curth-Macklin and congenital reticular ichthyosiform erythroderma. The clinical symptomatology--congenital ichthyosis, growth retardation, secondary hypogonadism, hepatomegaly--and the ultrastructural characteristics of the keratinization disorder indicate that the present case cannot be considered as a subtype of the recessively inherited ichthyosis congenita group, but suggest a new syndrome as a separate nosologic entity.
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PMID:Congenital ichthyosis with hypogonadism and growth retardation--a new syndrome with peculiar ultrastructural features. 141 65

We reviewed 82 cases of erythroderma, including clinical, laboratory, and biopsy material. The diseases most commonly associated with erythroderma were drug eruptions (34%), preexisting dermatoses (30%), and lymphoreticular neoplasms (20%), especially cutaneous T cell lymphomas (CTCL). The prognosis was related to the associated process; all deaths occurred in the drug or lymphoma groups. The clinical presentation of erythroderma was fairly uniform, with malaise (34%), pruritus (36%), and a subjective chilly sensation (34%) the most common symptoms. Keratoderma of the palms and soles (37%), mild generalized adenopathy (26%), and hepatomegaly (9%) were also common. Splenomegaly was rare (1%). Skin biopsy revealed the cause in 43% of the patients, but lymph node biopsy was not generally helpful in the initial evaluation. Although numerous laboratory values were abnormal, most findings were nondiagnostic and were related to the inflammatory process. A major exception was the Sezary cell preparation, which was selective for CTCL. A previously undiagnosed chronic erythroderma in a patient with no underlying skin disease may be the initial manifestation of CTCL. Thus, repeated evaluations and close follow-up are recommended.
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PMID:Erythroderma: review of 82 cases. 294 58

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.
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PMID:Neutral lipid storage disease. Case report and lipid studies. 818 19

Although there are various published studies on erythroderma from western and Asian countries, most of them have only included patients in the adult age groups. As we have an exclusively pediatric dermatology unit, we thought it would be intriguing to study the clinical, etiological and laboratory parameters of erythroderma in children. Seventeen erythroderma patients of both sexes were inducted into the study between 1993 to 1998. The mean age of onset was 3.3 years and the male:female ratio was 0.89:1. Eight (47%) of the patients were infants; 9 (53%) others belonged to the preschool and school going age group (age range between 1 to 12 years). An acute onset of the disease was seen in 47% of the patients while 53% of the patients had a chronic onset. The main presenting complaints were itching in 41% and burning in 18% of patients. Scalp involvement (71%), nail involvement (18%), and alopecia (6%) were the main cutaneous features observed while fever (53%), tachycardia (53%), pedal edema (12%), lymphadenopathy (18%), and hepatomegaly (12%) were the main systemic features observed in this study. Etiologically, drugs (29%), showed the highest incidence, followed equally (18%) by genodermatoses, psoriasis, and staphylococcal scalded skin syndrome (SSSS). Two (12%) patients had erythroderma due to atopic dermatitis, while one was (5%) due to infantile seborrheic dermatitis coexisting with dermatophytosis. Laboratory parameters contributed little towards diagnosis of the underlying dermatological condition. Thus, though erythroderma is a striking entity, it is yet uncommon in the pediatric age group. Because the drug induced group was the largest in this study, we recommend that drugs should be suspected as important causative factors of erythroderma in children.
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PMID:Erythroderma in children: a clinico-etiological study. 1048 5

Erythroderma is a clinical manifestation of dermatoses from different causes. Our objective was to determine its incidence, causes and clinicopathological features. Clinical, laboratory, and biopsy materials of 49 patients diagnosed as having erythroderma were reviewed. They were treated in our department over a 10-year period (1985 through 1994). The male-female ratio was 2:1. The mean age at diagnosis was 51.7 years. The most common causative factors were drugs (38.77%) and preexisting dermatoses (26.5%). Hepatomegaly, jaundice and abnormal liver function tests were found more commonly in the drug allergy group, while in cases with preexisting dermatoses nail involvement was a common finding. Clinicopathologic correlation in our study did not inform the etiology because it showed chronic nonspecific dermatitis or psoriasiform dermatitis, without any clue as to its origin. Drug-induced-erythroderma had an acute onset and a good prognosis with rapid resolution when the causative drug was withdrawn, while histopathology and laboratory findings were largely unrewarding.
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PMID:Erythroderma in Thai patients. 1051 79

Diaminodiphenyl sulphone (dapsone) is a drug of choice in the treatment of leprosy. It is also useful for the treatment of many neutrophilic and other dermatoses. Dapsone hypersensitivity syndrome is a rare but well recognized serious adverse effect characterized by fever, skin rashes, generalized lymphadenopathy, hepatitis, and hepato-splenomegaly. Twenty-six patients with dapsone hypersensitivity syndrome were studied for clinical profile, outcome, and prognosis. The male:female ratio was 2.2:1, and the mean age was 33.19 years (range 13 to 64 years). The interval between start of dapsone therapy and appearance of symptoms varied from 2-7 weeks (mean 29.82 days). Twenty-four patients received dapsone as a part of multi-drug therapy for leprosy; the other two patients received dapsone for lichen planus and acne vulgaris. Exfoliative dermatitis was the most common cutaneous manifestation followed by erythematous maculo-papular eruption and Stevens-Johnson syndrome-like lesion. The other common systemic manifestations were: fever (26 cases), itching (22 cases), lymphadenopathy (21 cases), jaundice (21 cases), pallor (20 cases), hepatomegaly (19 cases), and pedal edema (14 cases). Investigation profile revealed elevated levels of serum liver enzymes in 100% of patients, elevated erythrocyte sedimentation rate in 92.3%, raised bilirubin in 84.6%, leucocytosis in 69.23%, low hemoglobin (<9 gm/dl) in 46.15% and hypoproteinemia in 42.3%. Eosinophilia, hemolytic anemia, and reticulocytosis count were found in 4 patients each. All the patients had favorable outcomes except three who died due to hepatic failure. Medical personnel must be aware of this potentially fatal syndrome, because it can cause considerable morbidity and mortality.
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PMID:Dapsone hypersensitivity syndrome: a clinico-epidemiological review. 1636 48

We describe the clinical features, muscle pathology features, and molecular studies of seven patients with Chanarin-Dorfman syndrome (CDS) or neutral lipid storage disease and ichthyosis (NLSDI), a multisystem triglyceride storage disease with massive accumulation of lipid droplets in muscle fibers. All patients presented with congenital ichthyosiform erythroderma, cytoplasmic lipid droplets in blood cells, mild to severe hepatomegaly, and increased serum CK levels and liver enzymes. Three patients showed muscle symptoms and three had steathorrea. Molecular analysis identified five mutations, three of which are novel. These findings expand the clinical and mutational spectrum and underline the genetic heterogeneity of this disease.
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PMID:Clinical and genetic characterization of Chanarin-Dorfman syndrome. 1833 7

Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with congenital ichthyotic erythroderma due to an acylglycerol recycling defect. It is characterized by accumulation of neutral lipids in different tissues. Liver, muscle, ear, eye, and central nervous system are generally involved, so we presented a patient with severe ichthyosis, lipid vacuoles in neutrophils, and multiorgan involvement including a very rare complication, renal involvement. A 7-month-old girl was presented with frequent respiratory infection, congenital ichthyotic erithroderma and suspicion for immune deficiency. On her physical examination hepatomegaly, developmental delay, palmar and plantar hyperkeratosis and increased deep tendon reflexes with clonus and high tonus were found. Laboratory investigations revealed elevation at transaminases levels, hypoalbuminemia, hypergammaglobulinemia, presence of autoantibodies and eosinophilia. Vacuolization in leukocytes confirmed Dorfman-Chanarin syndrome, whereas no mutation at RAG1-2 and ARTEMIS genes ruled-out immune deficient status of the patient. At the age of eight months the patient died from severe renal failure. Her necropsies demonstrated microvesicular lipid accumulation not only at the liver but also at the renal species. The variability of involvement of different systems in Dorfman-Chanarin syndrome is well described, however the renal findings has not been reported previously at the literature.
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PMID:Renal involvement as a rare complication of Dorfman-Chanarin syndrome: a case report. 1857 36

A 50-year old woman was admitted with pre-Se'zary syndrome in May, 97 as she had intractable progressive erythroderma with intense pruritus since 15 months. She also had axillary, inguinal, hilar and para-aortic lymphadenopathy, hepatomegaly, alopecia, hypersensitivity to cefadroxyl, and abnormal Sezary cells in peripheral blood film. Histopathology confirmed the diagnosis. Initially she was given 20 mg of prednisolone which was later increased to 40 mg daily but she did not respond. She responded favourably to combination of 20 mg prednisolone and chlorambucil 2.5 mg daily.
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PMID:Pre-sezary To Sezary Erythroderma Syndrome. 2092 44


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