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

Prolidase deficiency is an autosomal recessive disorder that is associated with chronic cutaneous ulcers, mental retardation, unusual facial appearance, skeletal deformities, joint dislocations, hematological anomalies, splenomegaly, and chronic infections. The most typical finding is chronic, recurrent leg ulcers appearing in early childhood. Prolidase (peptidase-D) is necessary for collagen biosynthesis and its deficiency leads to impairment in connective tissue of the skin, capillaries, and lymphatic vessels. We report a 33-year-old woman who had a 15-year history of nonhealing ulcer on left pretibial region accompanied by splenomegaly, hypochromic microcytic anemia, and thrombocytopenia. Prolidase deficiency is a rare genodermatosis and must be considered in the differential diagnosis of leg ulcers that develop at an early age.
Dermatol Online J 2006 Dec 10
PMID:Ulcus cruris associated with prolidase deficiency. 1745 10

Dietary pulverized konjac glucomannan (PKGM) suppresses the development of eczema in NC/Nga mice, a model of atopic dermatitis (AD). Although NC/Nga mice were originally recognized as an autoimmune disease model, recent studies on their autoimmunity are still poorly performed. Here, we show that cervical lymphadenopathy, splenomegaly, and increases in plasma levels of anti-dsDNA, rheumatoid factor IgG autoantibodies, and B cell-activating factor of the TNF family (BAFF) were co-elicited in eczematous NC/Nga mice; however, these symptoms were all prevented in PKGM-fed mice. Our results imply the possible involvement of autoimmunity on the pathogenesis of dermatitis and hyper-IgE syndrome in NC/Nga mice. PKGM might be effective in preventing autoimmune responses in AD.
Arch Dermatol Res 2008 Feb
PMID:Development of autoantibody responses in NC/Nga mice: its prevention by pulverized konjac glucomannan feeding. 1793 42

Schnitzler syndrome describes the simultaneous occurrence of monoclonal gammopathy and chronic urticaria with at least two additional minor symptoms (arthralgia, bone pain, fever of uncertain origin, hepato- or splenomegaly, lymphadenopathy, increased erythrocyte sedimentation rate, leukocytosis/thrombocytosis or increased bone density). Schnitzler syndrome is not wellknown and very likely under-recognized. Comprehensive diagnostic examinations are necessary to rule out other diseases, especially those of hematologic origin. Close interdisciplinary collaboration is mandatory. The etiology of Schnitzler syndrome is unclear, but the rapid response to the interleukin-1 receptor inhibitor anakinra underlines the pivotal role which the proinflammatory cytokine interleukin-1 may play in the pathophysiology of this potentially autoinflammatory disorder.
J Dtsch Dermatol Ges 2008 Aug
PMID:The Schnitzler syndrome: chronic urticaria and monoclonal gammopathy--an autoinflammatory syndrome? 1837 Oct 52

Clonal disorders of large granular lymphocytes (LGL) represent a rare spectrum of biologically distinct lymphoproliferative diseases originating either from mature T cells or natural killer cells. Both subtypes can manifest as indolent or aggressive disorders. We report a 77-year-old woman with rheumatoid arthritis, splenomegaly, and neutropenia who developed a painful leg ulcer refractory to treatment and thigh telangiectatic lesions. Because of the association of rheumatoid arthritis, splenomegaly, and nonspecific neutropenia, the diagnosis of Felty syndrome was initially made. Further investigation allowed the diagnosis of a CD56(-) natural killer-cell LGL leukemia and documented skin infiltration by natural killer cells. Cutaneous manifestations of LGL leukemia have been rarely reported. This report of pseudo-Felty syndrome with CD56(-) LGL leukemia, presenting with a leg ulcer and telangiectasia, enhances the role of dermatology in the diagnosis of hematologic neoplasia.
J Am Acad Dermatol 2010 Mar
PMID:Leg ulcer and thigh telangiectasia associated with natural killer cell CD56(-) large granular lymphocyte leukemia in a patient with pseudo-Felty syndrome. 1996 15

Non-Hodgkin lymphoma (NHL) occurs in the setting of methotrexate (MTX) therapy for rheumatoid arthritis. However, it has been very rarely reported in subjects with psoriatic arthritis treated with MTX. We report here a case of a 70-year-old woman with psoriatic arthritis who presented with bilateral lung infiltrates, pleural effusion, splenomegaly, and inguinal lymphadenopathy during treatment with MTX. The diagnosis of diffuse large B-cell lymphoma was made by analysis of the pleural fluid via thoracentesis and biopsy of an enlarged inguinal lymph node. Clinicians should consider the possibility of a NHL complicating psoriasis and with MTX therapy in order to prevent treatment delays.
Dermatol Online J 2010 May 15
PMID:Diffuse large B-cell lymphoma with lung involvement in a psoriatic arthritis patient treated with methotrexate. 2049 18

CTLA4-blocking antibodies induce tumor regression in a subset of patients with metastatic melanoma by optimizing T-cell activity to fight the malignant cells. In addition to therapeutic benefits, CTLA4 therapy may induce immune-related adverse events (irAE). Studies on CTLA4 knockout and other CTLA4 deficient mice have resulted in splenomegaly, lymphoproliferation and fatal multi-organ destruction. The authors present a case of a 68-year-old patient who has developed splenomegaly following CTLA4 therapy. CTLA4 therapy's risks and benefits should be weighed carefully in the treatment of malignant melanoma. Larger prospective multi-center trials are needed to gauge the efficacy and complication rate of CTLA4 therapy. The authors propose that patients should get short-term surveillance imaging (CT or PET/CT) to exclude the multiple abdominopelvic complications and quickly terminate therapy if clinically warranted. It is also necessary for clinicians to carefully monitor for the number of possible complications associated with this immunotherapy.
J Drugs Dermatol 2010 Nov
PMID:CTLA4-induced splenomegaly and a review of the literature pertaining to autoimmune complications of therapy. 2106 68

We report a case of hydroa vacciniforme-like skin eruptions with chronic active Epstein-Barr virus infection in a 16-year-old boy. The patient had repeated episodes of vesiculo-necrotic eruptions on the face, trunk, and extremities for 13 years. General symptoms included fever, splenomegaly, and abnormal liver function. Histopathological examination of skin biopsy specimen demonstrated dense infiltration of lymphocytes, histocytes, and some neutrophils and plasma cells in the dermis. Immunohistochemical stain revealed that the lymphocytes were positive for T cell and B cell markers. Epstein-Barr virus infection studies and systemic presentation confirmed the diagnosis.
Pediatr Dermatol
PMID:Hydroa vacciniforme-like Epstein-Barr virus-associated lymphoproliferative disease: a case report. 2199 88

Non-Langerhans cell histiocytoses were originally described as individual diagnoses. However, evidence has been mounting that these entities are manifestations on a spectrum of the same disease. The authors present a patient who initially presented with lymphadenopathy, pancytopenia, splenomegaly, and high-grade fevers. A bone marrow biopsy was performed and she was diagnosed with myelodysplastic syndrome with trisomy 8. Several months later, her persistent pulmonary lymphadenopathy was biopsied revealing Rosai-Dorfman disease. Two years after her initial hospitalization, the patient presented with lesions consistent with generalized eruptive histiocytomas. This case highlights the difficulty that clinicians encounter when trying to separate generalized eruptive histiocytomas, Rosai-Dorfman disease, and the other non-Langerhans cell histiocytoses. While further research needs to be performed in the field of histiocytoses, this case provides clinical support that these diseases are closely linked.
J Clin Aesthet Dermatol 2012 Aug
PMID:Generalized eruptive histiocytomas and rosai-dorfman disease presenting concurrently in a patient with myelodysplastic syndrome. 2291 14

An 18-year-old male presented with a nonhealing wound on left lower limb, pain and swelling over multiple joints, weight loss, and yellowish discoloration of eyes and urine for the past 4 years. On examination, the patient had pallor, icterus, and generalized lymphadenopathy with a nonhealing unhealthy ulcer over left medial malleolus. He had deformed joints with hepatomegaly and splenomegaly. His laboratory investigations were positive for antinuclear antibody (ANA) and anticardiolipin antibody (ACLA). Synovial fluid analysis showed inflammatory findings. Biopsy of margin of the ulcer showed findings consistent with Acroangiodermatitis of Mali. The patient was treated with disease-modifying antirheumatic drugs (DMARDs) and aspirin for juvenile idiopathic arthritis and secondary antiphospholipid antibody syndrome (APS), respectively. The ulcer was managed conservatively with systemic antibiotics and topical steroids along with limb elevation and compression elastic stockings. The patient's symptoms improved significantly, and he is in our followup.
Case Rep Dermatol Med 2011
PMID:Nonhealing ulcer: acroangiodermatitis of mali. 2325 75

Adult-onset Still disease (AOSD) is a systemic inflammatory disorder characterized clinically by high spiking fever, polyarthralgia/arthritis, a salmon-pink evanescent rash, predominantly neutrophilic leucocytosis, lymphadenopathy, liver dysfunction, and splenomegaly. Recently, a nonclassic, nonevanescent skin rash has been reported. We report a 27-year-old woman with AOSD showing persistent pruritic papular lesions. Histologically, dyskeratotic keratinocytes were seen in the upper epidermis. We describe this case in detail and review the previous literature. Nonclassic pruritic eruptions with characteristic dyskeratotic keratinocytes might provide an important clue for the diagnosis of AOSD.
Clin Exp Dermatol 2014 Jun
PMID:Adult-onset Still disease with peculiar persistent plaques and papules. 2477 96


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