Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital erythropoietic porphyria is a rare autosomal recessive disorder of haem biosynthesis caused by a deficiency of uroporphyrinogen III synthetase. There is resultant accumulation and hyperexcretion of porphyrinogens of the isomer I variety. These are converted by spontaneous oxidation into their corresponding photoactive porphyrins leading to photodamage. Accumulation of porphyrins results in haemolysis and extensive photosensitivity. The consequences of chronic haemolysis are splenomegaly, reactive erythroid hyperplasia, erythrodontia, bone fragility, extreme photosensitivity and photomutilation. We present a 35-year-old man who has the severe infantile form and illustrates the haematological and photodestructive complications despite attempts at treatment with hypertransfusion, oral charcoal therapy and beta-carotene. Allogenic bone marrow transplantation has been considered but because of the high associated mortality this procedure has been discounted at present in the management of our patient.
Clin Exp Dermatol 2002 Nov
PMID:Congenital erythropoietic porphyria: dilemmas in present day management. 1247 46

Neonatal lupus erythematosus (NLE) is an autoimmune disease characterized primarily by transient skin lesions and/or permanent congenital heart block. Other clinical findings include self-limited cytopenias and liver disease. The syndrome results from the passive transfer of maternal anti-SSA, anti-SSB, or anti-U1RNP autoantibodies to the fetus across the placenta. The cutaneous manifestations are generally analogous to those of subacute cutaneous lupus erythematosus (SCLE) and consist of small, erythematous macules that progress to annular plaques with delicate scaling. The skin lesions usually resolve within the first 6 months of life as maternal autoantibodies are cleared from the infant's circulation. We describe a patient with cutaneous NLE with hepatic and hematologic manifestations. The clinical presentation was atypical, with splenomegaly and petechiae at birth followed by a crusting, papulosquamous skin eruption of the scalp and face mimicking Langerhans cell histiocytosis (LCH).
Pediatr Dermatol
PMID:Neonatal lupus erythematosus mimicking langerhans cell histiocytosis. 1265 18

We report the case of a 27 year-old man developing recurrent oral aphtosis associated with fever and 8 kg of weight loss. Moderate splenomegaly was observed on physical examination and neurological and cardiac examination were normal. Laboratory findings included marked eosinophilia at 3280 giga/l. Bone marrow (BM) examination revealed a myeloproliferative syndrome with mature eosinophils. Splenectomy was performed because of a suspected nodule on the BM, the histopathology revealed a myeloid metaplasia. The diagnosis of myeloproliferative form of hypereosinophilic syndrome (HES) was made. He was treated with interferon-alfa and hydroxyurea. After two years of treatment he had no ulcer recurrence and eosinophil count was at 180 giga/l. Mucosal manifestations as a prodromal symptom of HES are rare. The histology of the lesions shows numerous eosinophils; immunohistochemical analysis confirms the presence of eosinophil peroxydase, major basic protein and eosinophil derived neurotoxin. A few cases have been described. Death occurs 11 months to 5 years after the diagnosis of oral ulcerations. The treatment consists of interferon-alfa and hydroxyurea.
Eur J Dermatol
PMID:Mucosal ulcerations revealing primitive hypereosinophilic syndrome. 1269 43

The ability of the synthetic retinoid MDI-301, in which the carboxylic acid of 9- cis-retinoic acid (9-cis-RA) is replaced with an ester linkage, to induce epidermal and dermal thickening and skin irritation (erythema and flaking) in hairless (rhino) mice following its topical application was investigated in comparison with that of 14-all- trans-retinoic acid (14-all-trans-RA) and 9-cis-RA. MDI-301 induced epidermal proliferation leading to a thickened epidermis. Treated animals also demonstrated a prominent band of organized connective tissue immediately below the epidermis. In its ability to induce epidermal thickening, MDI-301 was quantitatively similar to 14-all-trans-RA and 9-cis-RA. However, unlike 14-all-trans-RA and 9-cis-RA, which produced skin irritation associated with a perivascular influx of mononuclear leukocytes into the dermis, there was no evidence of irritation with MDI-301 and little leukocyte infiltration. Intraperitoneal injection of either 14-all-trans-RA or MDI-301 also resulted in epidermal and dermal thickening. Irritation of skin was not observed in these animals but splenomegaly was prominent in animals treated with either agent.
Arch Dermatol Res 2003 Nov
PMID:Separation of retinoid-induced epidermal and dermal thickening from skin irritation. 1456 58

Most cases of urticaria pigmentosa are confined to the skin, but visceral involvement and/or haematological abnormalities have been observed. It is still a matter of debate whether all forms of mastocytosis are true neoplasias or reactive hyperplasias. Familial inheritance of urticaria pigmentosa is rare. We report on a fraternal set with urticaria pigmentosa as part of a systemic mastocytosis. The first patient additionally revealed persistent thrombocytosis and splenomegaly. His brother developed urticaria pigmentosa, intermittent diarrhoea, hepatomegaly and asthma bronchiale associated with trisomy 21 (Down's syndrome). The association of mastocytosis with thrombocytosis has seldom been described. In our patient it preceded the development of systemic mastocytosis. The association with Down's syndrome has not been reported until now.
J Eur Acad Dermatol Venereol 2003 Nov
PMID:Familial urticaria pigmentosa associated with thrombocytosis as the initial symptom of systemic mastocytosis and Down's syndrome. 1476 Nov 47

We describe a 33-year-old woman with a 2-year history of rheumatoid arthritis-like joint changes and a 1-year history of papulonodules on the fingers, ears, oral mucosa, forearm, elbows and thighs, and erythematous plaques on the buttocks. Six months after the onset of the cutaneous lesions she had dyspnoea, 3 months later she developed a husky sound. Biopsies from the nodules on the ear and left forearm revealed multinucleated giant cells with eosinophilic 'ground-glass' cytoplasm. Bronchoscopy revealed that there were nodules in the bronchus. A biopsy taken from a nodule from the bronchus was consistent with multicentric reticulohistiocytosis. Fibrostic laryngoscopy showed a mass 1.5 x 2.0 cm(2) in size on the left aryepiglottic fold and posterior commissure. Magnetic resonance imaging revealed a large pleural effusion and pericardiac effusion. Ultrasound revealed splenomegaly and peritoneal fluid. Combination therapy with prednisone, cyclophosphamide and methotrexate significantly improved cutaneous and joint symptoms. The huge cutaneous erythematous plaques and the generalized systemic involvement make this case interesting.
Clin Exp Dermatol 2004 Jul
PMID:Multicentric reticulohistiocytosis with generalized systemic involvement. 1524 33

The characteristic rash of systemic juvenile idiopathic arthritis is a transient erythematous eruption associated with a quotidian spiking fever. Usually asymptomatic, it can be pruritic, with dermatographism at sites of scratching or pressure. An illness similar to this entity in adults is designated adult-onset Still disease. The relationship between the pediatric and adult disease is uncertain and differences in case definition have evolved. Specifically, a sustained arthritis for at least 6 weeks is required for a diagnosis of systemic juvenile idiopathic arthritis, whereas transient arthritis and arthralgia are accepted criteria in adult-onset Still disease. We describe five patients less than 16 years of age who presented with an acute illness characterized by fever and a distinctive skin eruption. Intense pruritus and linear erythematous lesions flared with a spiking fever, usually in the late afternoon and evening. Periorbital edema/erythema and nonlinear urticarial lesions were also seen. Two children had splinter hemorrhages of the nail beds and one girl developed a fixed, scaling, pigmented, linear eruption. Severe malaise, myalgia, arthralgia, and leukocytosis were present in every patient. Other systemic manifestations included sore throat, transient arthritis, abdominal pain, lymphadenopathy, hepatomegaly, splenomegaly, hyperferritinemia, and hepatic dysfunction. No patient had a sustained arthritis. The course of the disease was variable. One patient, diagnosed with macrophage activation syndrome, recovered on oral naproxen. Two patients responded to systemic corticosteroid therapy. One girl developed status epilepticus and died from aspiration and asphyxia. A boy with severe hepatitis developed renal failure and thrombotic thrombocytopenic purpura and was treated with plasmapheresis, dialysis, and systemic corticosteroids; he had recurrent episodes of rash and fever into adult life. These children did not fulfill the case definition of systemic juvenile idiopathic arthritis because they lacked a persistent arthritis. Adolescent and adult patients with the same clinical and laboratory findings are described under the rubric of adult-onset Still disease. Recognition of the distinctive urticarial skin eruption and spiking fever is important in the diagnosis of a disease with severe morbidity and potentially life-threatening complications.
Pediatr Dermatol
PMID:A pruritic linear urticarial rash, fever, and systemic inflammatory disease in five adolescents: adult-onset still disease or systemic juvenile idiopathic arthritis sine arthritis? 1546 68

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.
J Dermatol 2005 Nov
PMID:Dapsone hypersensitivity syndrome: a clinico-epidemiological review. 1636 48

Sarcoidal (non-caseating) or tuberculoid granulomas are cutaneous manifestations of common variable immunodeficiency (CVID). In this case report, we describe a patient with CVID but with non-sarcoidal, non-tuberculoid granuloma. The 29-year-old Egyptian male patient presented with a vitiliginous patch on the chin of 1 year duration and multiple recurrent warts on the hands and feet of 8 years duration. He is a known case of CVID with chronic diarrhea, recurrent otitis media, pneumonia, purulent conjunctivitis, septic arthritis, hepato-splenomegaly, and generalized lymphadenopathy. In addition, he had evidence of multiple non-tender subcutaneous nodules predominantly juxta-articular and recurrent rheumatoid-like arthritis. The skin overlying the nodules was either normal or slightly erythematous. Laboratory findings revealed markedly reduced serum immunoglobulins (IgG 3.4, n = 7.2-16.9 g/l; IgA 0.1, n = 0.69-3.82 g/l and IgM 0.1, n = 0.63-2.77 g/l) and deficient T cell function. Histopathologic examination of a skin nodule showed well demarcated areas of fibrinoid degeneration of collagen that stain homogeneously and are surrounded by histiocytes in a palisading arrangement, suggestive of granuloma annulare. No microorganisms could be detected. Serology for rheumatoid factor and HIV infection has been persistently negative. Although most infections, including common warts responded well to intravenous immunoglobulin replacement therapy (12 g/i.v., every 2 weeks) and oral broad spectrum antibiotic therapy, the subcutaneous nodules persisted. The vitiliginous patch responded favorably and disappeared within 24 local PUVA sessions. Since skin nodules are asymptomatic, no further treatment was given.
J Drugs Dermatol 2006 Apr
PMID:Non-sarcoidal, non-tuberculoid granuloma in common variable immunodeficiency. 1667 8

A 40-year-old Chinese man presented with sensorimotor polyneuropathy, IgAlambda paraprotein, osteosclerotic bone lesions, hypertrichosis, and impotence with decreased testosterone and raised prolactin level. POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes) syndrome was diagnosed and he was treated with melphalan and prednisolone. After chemotherapy, other manifestations of POEMS syndrome developed, such as multiple haemangiomas over the chest and neck region, splenomegaly and generalized oedema. One haemangioma had a peculiar clinical morphology, similar to the appearance of cerebral gyri. Skin biopsy confirmed the diagnosis of glomeruloid haemangioma. Chemotherapy was then switched to cyclophosphamide and prednisolone, resulting in further improvement in muscle power and hypertrichosis. To our knowledge, this is the first report on a clinically distinctive morphology of glomeruloid haemangioma, and its recognition may increase the index of suspicion for early skin biopsy.
Clin Exp Dermatol 2006 Nov
PMID:Glomeruloid haemangioma with cerebriform morphology in a patient with POEMS syndrome. 1704 Feb 61


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