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)

A patient with peripheral polyneuropathy, hepatosplenomegaly, osteosclerotic myeloma in the ilium, hyperpigmentation and hypertrichosis is described. A diagnosis of POEMS syndrome was made. This is the first report of this syndrome from India.
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PMID:POEMS syndrome. 181 11

POEMS (polyneuropathy, organomegaly [hepatosplenomegaly or lymphadenopathy], endocrinopathy, M protein, and skin changes) syndrome is an uncommon plasma cell dyscrasia with diverse manifestations, including lymphadenopathy as well as those that comprise the acronym. Dermatologic changes may include hyperpigmentation, thickened skin, hypertrichosis, and papular angiomas. These changes are believed to result from humoral products of the plasma cell clone and frequently resolve with treatment of the neoplasm. We describe a man with typical POEMS syndrome with a unique skin lesion: a large, sharply circumscribed, pigmented plaque on the anterior chest wall centered over a plasmacytoma of the sternum. Results of histologic examination showed a proliferation of capillaries of varying size, enlarged fibroblasts, and increased amounts of collagen and proteoglycan from the dermis to the periosteum. Because the outer cortex of the sternum was eroded, peptide mediators of vascular and fibroblast proliferation may have diffused directly from the plasma cell lesion into the tissues of the chest wall.
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PMID:Plasma cell dyscrasia: a case of POEMS syndrome with a unique dermatologic presentation. 268 Dec 92

A review of cases indicated that gingival fibromatosis occurs in a variety of genetic entities. High risk for epilepsy and oligophrenia is associated if hypertrichosis is present. Other entities are symmetrical gingival fibromatosis; Zimmermann-Laband syndrome with bone, ear, nose and nail defects and hepatosplenomegaly; Murray syndrome with multiple hyaline dermal tumors; Rutherfurd syndrome with corneal dystrophy; Cowden syndrome with hypertrichosis, oligophrenia and giant fibroadenomatosis of breasts and Cross syndrome of hypopigmentation, oligophrenia and athetosis.
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PMID:Heterogeneity in gingival fibromatosis. 495 Sep 23

A 48 years old male is reported. He presented with lower limb progressive and severe polyneuropathy, hypertrichosis, endocrinological alterations (hypothyroidism and hypogonadism) and organomegaly (hepatosplenomegaly and lymphadenopathies). This syndrome was associated with an osteosclerotic myeloma. The patient died two months after admission.
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PMID:[POEMS syndrome. A case report]. 772 96

Gingival fibromatosis may be reported as an isolated finding or associated with a number of distinct and frequently inherited group of disorders. The characteristics of the Laband syndrome include gingival hyperplasia, dysplasia of the terminal phalanges and nails of extremities, hepatosplenomegaly and facial dysmorphism. Another well-known syndrome with gingival fibromatosis associates generalized hypertrichosis and inconstant mental retardation and epilepsy. We report a case with features of Laband syndrome and congenital marked hypertrichosis, suggesting overlap between these two genetic disorders.
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PMID:Congenital marked hypertrichosis and Laband syndrome in a child: overlap between the gingival fibromatosis-hypertrichosis and Laband syndromes. 781 25

Congenital erythropoietic porphyria (CEP) is a rare disorder of heme biosynthesis. Skeletal abnormalities have been described in patients with this disease. We report a 25-year-old woman with osteodystrophy from CEP. On examination, mild hepatosplenomegaly, multiple hyperpigmented scars, hypertrichosis, erythrodontia and red coloration of urine were found. Biochemical studies showed increased serum levels of alkaline phosphatase, fasting and total 24-h urinary calcium excretion. Serum 250H vitamin-D concentration was low due to avoidance of sun exposure. Skeletal radiographs disclosed marked vertical and horizontal trabecular pattern and biconcavity of most of the dorsal and lumbar vertebral bodies. Several round sclerotic lesions (1-3 cm in diameter) were seen in the skull, pelvis and one lumbar vertebrae. The sclerotic lesions were augmented in size and number compared to X-rays obtained 8 years before. Bone mineral density (evaluated by DEXA) was markedly reduced at the spine and moderately diminished at the proximal femur and total skeleton. Treatment for 11 months with pamidronate (and the addition of hydrochlorotiazide for the last 6 months) reduced to normal values the serum levels of alkaline phosphatase and fasting urinary calcium. The 24-h urinary excretion of calcium and hydroxyproline were also decreased. The BMD increased in all the skeletal areas with presumably hyperactive bone marrow: spine, head, ribs and pelvis (and total skeleton), but did not change at the extremities and diminished at the femoral neck. Patients with CEP may present osteodystrophy characterized by sclerotic lesions and osteopenia, most likely due to accelerated bone turnover in areas of active bone marrow.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Congenital erythropoietic porphyria: skeletal manifestations and effect of pamidronate treatment. 802 43

POEMS syndrome is a rare condition with cutaneous manifestations commonly including angiomas, hypertrichosis, hyperpigmentation, and thickening of the skin. We describe a male patient with a 2-year history of cervical lymphadenopathy, erythematous thickening of the skin on the neck, and progressive walking difficulties. The patient had an occipital erythema with scarring alopecia and sparse follicular pustules at the edge of the lesion. Further investigation revealed symmetric polyneuropathy, hepatosplenomegaly, monoclonal gammopathy, subclinical thyreopathy, and an osteolytic bone lesion of the skull. Histologically, a plasmacytoma with lambda cell restriction was found. The overlying skin showed marked fibrosis, with loss of hair follicles, and a plasma cell infiltrate of polyclonal origin. The cervical lymph nodes showed histologic characteristics of multicentric Castleman's disease, and the skin of the neck showed thickening and vasoproliferation. There was no evidence of further plamacytomas. After excision of the plasmacytoma and postoperative irradiation, the symptoms gradually resolved within a few months. A cicatricial lesion remained on the occiput without further folliculitis or hair loss on the rest of the scalp. This case illustrates the reactive character of POEMS syndrome as a paraneoplastic syndrome in myeloma patients.
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PMID:POEMS syndrome: cicatricial alopecia as an unusual cutaneous manifestation associated with an underlying plasmacytoma. 1032 21

Congenital generalized lipodystrophy (CGL, Berardinelli-Seip syndrome) is a rare autosomal recessive disorder with a clinical presentation of paucity of adipose tissue, muscular hypertrophy, organomegaly, and insulin-resistant diabetes. A 4-month-old Taiwanese female infant had hepatosplenomegaly and low body weight gain despite a voracious appetite. Hypermetabolism, hyperhidrosis, loss of subcutaneous fat, muscular hypertrophy, acanthosis nigricans, hypertrichosis, and marked hypertriglyceridemia were also noted. Liver histology revealed fatty change and portal-to-portal bridging fibrosis. Clinical features, serum biochemistry, and liver histology were compatible with the diagnosis of CGL. She was given a special diet characterized by calorie restriction and partial substitution of long-chain triglycerides with medium-chain triglycerides. The serum triglyceride concentration subsequently decreased. This present case suggests that extensive fatty infiltration and subsequent cirrhosis of the liver may be the earliest complication of CGL.
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PMID:Congenital generalized lipodystrophy in a 4-month-old infant. 1169 79

We report a case of anaphylactoid shock occurring immediately after the initiation of second intravenous administration of high-dose immunoglobulin (IVIg) in a patient with Crow-Fukase syndrome. The patient was a 57-year-old woman, who was admitted to our hospital because of numbness and muscle weakness in the four extremities, difficulty in walking, and foot edema. On admission, her skin was dry and rough, and also showing scattered pigmentation, small hemangiomas, and hypertrichosis in both legs. She had distal dominant muscle weakness, more prominent in her legs, and was not able to walk. Deep tendon reflexes in her four extremities were markedly diminished or absent. She had a glove and stocking type of paresthesia, severe impairment of vibration, and absence of joint position sensation in her four extremities. On laboratory data, serum vascular endothelial growth factor (VEGF) was markedly elevated to 5,184 pg/ml (normal: below 220 pg/ml). Cerebrospinal fluid examination revealed cell counts of 2/microliter and protein level of 114 mg/dl. Abdominal echo showed marked hepatosplenomegaly. On peripheral nerve conduction study, both motor and sensory conduction velocity were undetectable in her legs. We diagnosed her condition as Crow-Fukase syndrome, and started IVIg of polyethyleneglycol-treated gamma-globulin (PEG-glob) at 400 mg/kg/day for 5 consecutive days for polyneuropathy. Since the first IVIg mildly improved muscle weakness, we tried the second IVIg of PEG-glob. However, immediately after the initiation of second IVIg of PEG-glob, she developed hypotention, dyspnea, cold sweating, cyanosis, and became lethargic. We immediately stopped IVIg and started first-aid treatment with epinephrine and corticosteroid for these symptoms. This treatment was successful and the patient fully recovered without any sequelae. Since serum IgE level remained unchanged and lymphocyte stimulation test (LST) was positive against the same rot number of PEG-glob, we diagnosed these symptoms as anaphylactoid shock. Based on the results of LST, we speculated that PEG-glob was the causative agent of anaphylactoid reaction. Anaphylactic or anaphylactoid reaction as adverse effects of IVIg is very rare, and to our knowledge, there are only 4 previous reports of anaphylactic or anaphylactoid reaction caused by IVIg. Therefore, we speculated that the prominent high level of serum VEGF in the present patient might play a significant contributory role in the development of anaphylactoid shock, since the vascular permeability of VEGF is 50,000 times stronger than that of histamine. We consider that it is necessary to carefully monitor IVIg of PEG-glob administration for polyneuropathy in patients with high level of serum VEGF, like Crow-Fukase syndrome.
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PMID:[A case of anaphylactoid shock occurring immediately after the initiation of second intravenous administration of high-dose immunoglobulin (IVIg) in a patient with Crow-Fukase syndrome]. 1450 55

A 57-year-old woman suffering from pleural and pericardial effusion, pulmonary hypertention, lymphadenopathy, hepatosplenomegaly, edema, hypertrichosis, small hemangioma and polyneuropathy was diagnosed as Crow-Fukase syndrome. Osteoctomy of the left second rib and irradiation of this rib and the left iliac bone were performed. Serum vascular endothelial growth factor (VEGF) level decreased to less than one-half the level before the operation (from 5,180 to 2,150 pg/ml). Immediately after the operation, pleural and pericardial effusions due to hyperpenetration improved, and polyneuropathy and hypertrichosis due to hypervasularity also gradually improved. The resected lesion was histopathologically found to be of a plasmacytoma of the IgG lambda type. Since the level of VEGF in the tissue specimen was much lower (116 pg/ml) than that in the serum, VEGF could not have been produced by the plasmacytoma.
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PMID:[A case of Crow-Fukase syndrome showing improvement following excision and irradiation of bone lesions]. 1529 61


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