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 9-year-old boy, the third child of nonconsanguinous parents, presented with asymptomatic, solid, raised skin lesions over the upper back. They first appeared at the age of 4 years. Gradually similar lesions appeared over the chest, neck, arms, and thighs. On examination, he had firm, hypopigmented to skin-colored papules and nodules which coalesced to form ridges in a reticular pattern (pebbling of the skin) and were arranged bilaterally and symmetrically over the scapulae, pectoral region of the chest, and lateral aspects of the arms and thighs. They resembled sulci and gyri of the brain. He had normal intelligence, short stature, coarse facial features, thick lips, a large tongue, clear corneas, a protuberant abdomen with hepatosplenomegaly, and broad hands with clawlike contractures of the distal interphalangeal joints. Investigations revealed cardiomegaly and proximal tapering of metacarpal bones. Although peripheral blood smear and urine spot test for mucopolysaccharides were negative, histopathology of a representative skin lesion was compatible with the diagnosis of Hunter's syndrome. The case is reported for its rarity and the typical skin lesions, the recognition of which may be helpful in diagnosis and genetic counseling.
Pediatr Dermatol
PMID:Pebbling of the skin: a marker of Hunter's syndrome. 979 87

Haemophagocytic syndrome is a systemic clinicopathological entity characterized by systemic proliferation of benign haemophagocytic histiocytes, fever, cytopenia, abnormal liver function and, frequently, coagulopathy and hepatosplenomegaly. Its occurrence has been documented in association with viral, bacterial, fungal and parasitic infections, a wide spectrum of malignant neoplasms, autoimmune diseases and drugs. We report a case of rubella virus-associated haemophagocytic syndrome in a previously healthy 29-year-old woman. Blood tests showed cytopenia, especially severe thrombocytopenia, liver dysfunction, hyperferritinaemia and hypercytokinaemia. Bone marrow examination showed many mature histiocytes with active haemophagocytosis. A skin biopsy from the rash revealed perivascular lymphohistiocytic infiltrates with haemophagocytic histiocytes in the upper and mid-dermis. The patient was treated with antibiotics and immunoglobulin, and by supportive measures including platelet transfusion, and recovered completely.
Br J Dermatol 1998 Nov
PMID:Virus-associated haemophagocytic syndrome caused by rubella in an adult. 989 58

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.
J Am Acad Dermatol 1999 May
PMID:POEMS syndrome: cicatricial alopecia as an unusual cutaneous manifestation associated with an underlying plasmacytoma. 1032 21

We report a 74-year-old man who presented with a rash on the trunk showing clinical and histological features of non-Langerhans cell histiocytosis. Two years after presentation he developed weight loss, lymphadenopathy and hepatosplenomegaly; a diagnosis of lymphocyte-predominant Hodgkin's disease was made on lymph node biopsy. The cutaneous signs and lymphoma responded to chemotherapy. Taken in conjunction with previously published reports of associations between cutaneous histiocytoses and haematological malignancies, we recommend close observation of patients in whom a diagnosis of non-Langerhans cell histiocytosis is made.
Clin Exp Dermatol 1999 Sep
PMID:Non-Langerhans cell histiocytosis associated with lymphocyte-predominant Hodgkin's disease. 1056 22

A 6-week-old boy was referred with a generalized bullous rash since birth. Examination revealed bullous mastocytosis with initially no evidence of systemic involvement. Hepatosplenomegaly was noted at 6 months, and at 12 months he was found to have generalized lymphadenopathy. He developed bouts of vomiting associated with increased blistering. At 17 months he had sudden collapse following a brief bout of vomiting and was apneic and asystolic on arrival at the emergency department. The cause of death was attributed to massive hypotension secondary to mast cell degranulation. Although childhood mastocytosis has a favorable course in general, the subset of children with congenital bullous mastocytosis is at higher risk of sudden death and a more guarded prognosis should be given.
Pediatr Dermatol
PMID:Bullous mastocytosis: a fatal outcome. 1063 43

Progressive nodular histiocytosis is a proliferative process of histiocytes, the main element of which is the dermal dendrocyte. It is considered to form part of a group of histiocytic disorders related to juvenile xanthogranuloma, which also includes xanthoma disseminatum, benign cephalic histiocytosis, spindle cell xanthogranuloma and generalized eruptive histiocytosis; disorders which perhaps represent the spectrum of one single entity. We present the case of a 57-year-old man who, for 26 years, had had a progressively deforming process of cutaneous lesions, with systemic involvement, including chronic myeloid leukaemia, hepatosplenomegaly, hypothyroidism, hyperuricaemia and hypocholesterolaemia. We have not been able to establish precisely the relationship between these features.
Br J Dermatol 2000 Sep
PMID:Progressive nodular histiocytosis accompanied by systemic disorders. 1153 23

Niemann-Pick disease (NPD) represents a type of lysosomal storage diseases in which sphingomyelin accumulates in the histocytes and reticuloendothelial cells of the spleen, liver, lymph nodes, bone marrow and central nervous system. We report a child with massive hepatosplenomegaly, lymphadenopathy, mental retardation and widespread papulonodular lesions. His clinical features conform to the type A subgroup of NPD.
J Eur Acad Dermatol Venereol 2000 Jul
PMID:Type A Niemann-Pick disease. 1120 22

Hypersensitivity to mosquito bites or mosquito allergy is a mysterious disorder that has been reported mainly in Japanese patients (at least 58 patients) in the first two decades of life. The skin lesion at bite sites is typically a bulla that develops into necrosis. Patients simultaneously exhibit a high temperature and general malaise and subsequently may experience lymphadenopathy and hepatosplenomegaly. Recent studies have revealed that this mosquito hypersensitivity is associated with chronic Epstein-Barr virus infection and natural killer cell leukemia/lymphoma. The natural killer cell, infected with monoclonal (or oligoclonal) Epstein-Barr virus, seems to be involved in the pathogenesis of the hypersensitivity. Half of the patients reported died of hemophagocytic syndrome (or malignant histiocytosis), granular lymphocyte proliferative disorder, or lymphomas. We propose that this disease, defined as the triad of hypersensitivity to mosquito bites, chronic Epstein-Barr virus infection, and natural killer cell leukemia/lymphoma, is a clinical entity mostly seen in Asians.
J Am Acad Dermatol 2001 Oct
PMID:Hypersensitivity to mosquito bites as the primary clinical manifestation of a juvenile type of Epstein-Barr virus-associated natural killer cell leukemia/lymphoma. 1156 49

Multiple sulfatase deficiency (MSD) is an inborn error of metabolism that combines the clinical features of late infantile metachromatic leukodystrophy and mucopolysaccharidosis. The characteristic biochemical abnormality is a reduction in the activities of several sulfatases, with consequent tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates. In this study we present two unusual cases of MSD with variable enzymatic deficiency of arylsulfatases A, B, and C. Both patients had ichthyosis, broad thumbs and index fingers, an unusually slow progression of the neurologic symptoms, and lacked the hepatosplenomegaly that is typical of MSD. Olivopontocerebellar atrophy was present and one patient had a large retrocerebellar cyst. Mucopolysaccharides were not detected in the urine from either subject. Leukocyte arylsulfatase A activity in patient 1 was 0.46 nmol/mg protein/hr and in patient 2 was 0.0 nmol/mg protein/hr (normal 0.7-5.0 nmol/mg protein/hr). Leukocyte arylsulfatase B activity in patient 1 was 24 nmol/mg protein/hr and in patient 2 was 22 nmol/mg protein/hr (normal 115-226 nmol/mg protein/hr). Leukocyte arylsulfatase C in patient 1 was 0.30 pmol/mg protein/hr and in patient 2 was 0.28 pmol/mg protein/hr (normal 0.84 pmol/mg protein/hr). In conclusion, these two patients with MSD had mild clinical presentations not previously reported and variable enzymatic deficiency of arylsulfatases A, B, and C.
Pediatr Dermatol
PMID:Unusual clinical presentation in two cases of multiple sulfatase deficiency. 1173 81

We report the case of a woman with a characteristic transient skin rash, fever, severe polyarthritis, hepatosplenomegaly, lymphadenopathy and myalgia. The clinical and laboratory data led to a diagnosis of adult-onset Still's disease. The elevated levels of serum ferritin and caeruloplasmin could be important as diagnostic indicators.
Br J Dermatol 2002 Mar
PMID:Elevated serum caeruloplasmin level in a patient with adult Still's disease. 1195 55


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