Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027947 (neutropenia)
 17,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 3-year-old Turkish boy with a history of chronic cough, recurrent bronchopneumonia, and a borderline sweat chloride test (40 mEq/L) was referred for further evaluation to our department. He was born at term (2100 g) to a marriage with no consanguinity. His mother and father were 40 and 46 years old, respectively. Physical examination (Fig. 1) revealed hypopigmented, atrophic, and hyperkeratotic skin lesions surrounded by reticulate hyperpigmentation on the entire body, predominantly on the face, neck, arms, shoulders, and legs, which had been noticed initially at the age of 18 months. Dystrophic toenails, sparse and thin hair, and phimosis were also observed. Laboratory tests disclosed an isolated neutropenia (white blood cell count, 1800/mm3). Bone marrow (BM) aspiration showed a decreased myelopoiesis without myelodysplastic changes, but normal erythropoiesis, megakaryopoiesis, and normal stroma. Lymphocyte subgroups containing CD4, CD5, CD6, CD8, CD19, CD23, and CD25, and immunoglobulin G (IgG), IgM, IgA, and IgE, were in the normal range; hemoglobin F (HbF), 2.8%. Spontaneous and clastogen-induced chromosome breaks were not increased. A skin biopsy showed increased pigmentation at the basal layer, dyskeratotic epidermal cells, and marked IgM deposition and cytoid bodies and mild IgA and IgG deposits at the dermo-epidermal junction. Lactate response to glucose challenge, amino acid chromatography, and urine organic acid analysis were normal. A diagnosis of dyskeratosis congenita (DC) was made with typical skin lesions, dystrophic toenails, thin and sparse hair, and neutropenia with decreased myelopoiesis in BM. Treatment with granulocyte colony-stimulating factor (G-CSF) was considered for the neutropenia. As the increase in neutrophil count at a dose of 5 microg/kg was not adequate, 10 microg/kg G-CSF was tried (Fig. 2). With 10 microg/kg once to three times a week, a 1.8-4.8-fold increase in the absolute neutrophil count (ANC) was achieved with no side-effects. Treatment was more frequent during infection (days 22-28).
Int J Dermatol 2002 Mar
PMID:Dyskeratosis congenita with isolated neutropenia and granulocyte colony-stimulating factor treatment. 1201 Mar 44

Infections caused by Fusarium species are increasing in frequency among immunocompromised hosts. We identified 35 patients with cancer who had Fusarium skin lesions. Twenty patients had disseminated infection, 6 had primary localized skin infections, 4 had skin lesions associated with sinus infections, and 5 had onychomycosis. All patients (except 3 with onychomycosis) had hematologic malignancies and neutropenia. Skin lesions associated with disseminated infection included red or gray macules, papules (some with central necrosis or eschar), pustules, and subcutaneous nodules. Most patients had a variety of lesions simultaneously. Multiple red or gray macules with central ulceration or black eschar are characteristic of Fusarium infection. Disseminated infection may originate from skin lesions or onychomycosis. Most infections fail to respond to antifungal therapy unless there is resolution of the patient's neutropenia.
J Am Acad Dermatol 2002 Nov
PMID:Skin lesions associated with Fusarium infection. 2150 89

An unusual case of cyclic neutropenia and hereditary myeloperoxidase deficiency complicated by noma-like gangrenous cheilitis is described. Klebsiella pneumoniae and Candida albicans were cultured from the involved area. We present this case to increase physician awareness of the possible association of both quantitative and qualitative defects of neutrophils and to stress the importance of the early and effective management of skin infections that can rapidly progress to severe sequelae when associated with profound neutropenia.
Pediatr Dermatol
PMID:Noma-like gangrenous cheilitis in a child with cyclic neutropenia associated with myeloperoxidase deficiency. 1465 74

Rhinoscleroma is a chronic, granulomatous infectious disease that responds poorly to treatment. In recent years an increasing number of cases have been reported in nonendemic areas, explained largely by major migratory movements. We describe rhinoscleroma in three siblings. They had ulcerated but painless lesions, which bled spontaneously, and hemorrhagic scabs or crusts in their noses. In one child, the lesions had destroyed the entire left nasal ala and alar cartilage and most of the right. Dermatopathologic study identified the Mikulicz macrophages that contained organisms. It is possible that disposing factors could have been the neutropenia common to the three children and their poor living conditions. They were treated with a combination of trimethoprim-sulfamethoxazole and cefalexin, for a period of 3 months. We present this unusual case history of three siblings affected by a process that is relatively infrequent in our area of practice and is not considered very contagious. It is important to recognize the clinical signs characteristic of this disease, the diagnosis of which is not easy. Improvements in living conditions, hygiene, and health standards are essential prerequisites for its control and prevention.
Pediatr Dermatol
PMID:Rhinoscleroma in three siblings. 1507 54

Antimicrobial peptides (AMPs) are small molecular weight proteins with broad spectrum antimicrobial activity against bacteria, viruses, and fungi. These evolutionarily conserved peptides are usually positively charged and have both a hydrophobic and hydrophilic side that enables the molecule to be soluble in aqueous environments yet also enter lipid-rich membranes. Once in a target microbial membrane, the peptide kills target cells through diverse mechanisms. Cathelicidins and defensins are major groups of epidermal AMPs. Decreased levels of these peptides have been noted for patients with atopic dermatitis and Kostmann's syndrome, a congenital neutropenia. In addition to important antimicrobial properties, growing evidence indicates that AMPs alter the host immune response through receptor-dependent interactions. AMPs have been shown to be important in such diverse functions as angiogenesis, wound healing, and chemotaxis. As our knowledge of AMP biology expands, the precise role and relevance of these peptides will be better elucidated.
J Am Acad Dermatol 2005 Mar
PMID:Antimicrobial peptides. 1576 15

Acute graft-versus-host disease is mainly a complication of allogeneic bone-marrow transplantation, and rarely seen after transplantation of solid organs. We describe a 68-year-old man who developed a maculopapular eruption and fever approximately 15 days after orthotopic liver transplantation for cryptogenic cirrhosis. At day 19, the patient developed abrupt neutropenia and diarrhea. Skin biopsy was performed and the specimen revealed basal cell layer vacuolization, necrotic keratinocytes, and satellite cell necrosis. Bone-marrow aspiration performed after the patient became pancytopenic revealed aplastic marrow with scattered lymphocytes and rare megakaryocytes. A diagnosis of acute graft-versus-host disease was made and an immunosuppressive drug regimen was initiated. Unfortunately, the patient died after support was withdrawn because of total ablation of his bone marrow and multiorgan failure. This report describes the rare presentation of acute graft-versus-host disease after solid organ transplantation, and that skin manifestations may be an early presenting sign.
J Am Acad Dermatol 2005 May
PMID:Rash and pancytopenia as initial manifestations of acute graft-versus-host disease after liver transplantation. 1585 89

There are two main types of fungal infections in the oncology patient: primary cutaneous fungal infections and cutaneous manifestations of fungemia. The main risk factor for all types of fungal infections in the oncology patient is prolonged and severe neutropenia; this is especially true for disseminated fungal infections. Severe neutropenia occurs most often in leukemia and lymphoma patients exposed to high-dose chemotherapy. Fungal infections in cancer patients can be further divided into five groups: (i) superficial dermatophyte infections with little potential for dissemination; (ii) superficial candidiasis; (iii) opportunistic fungal skin infections with distinct potential for dissemination; (iv) fungal sinusitis with cutaneous extension; and (v) cutaneous manifestations of disseminated fungal infections. In the oncology population, dermatophyte infections (i) and superficial candidiasis (ii) have similar presentations to those seen in the immunocompetent host. Primary cutaneous mold infections (iii) are especially caused by Aspergillus, Fusarium, Mucor, and Rhizopus spp. These infections may invade deeper tissues and cause disseminated fungal infections in the neutropenic host. Primary cutaneous mold infections are treated with systemic antifungal therapy and sometimes with debridement. The role of debridement in the severely neutropenic patient is unclear. In some patients with an invasive fungal sinusitis (iv) there may be direct extension to the overlying skin, causing a fungal cellulitis of the face. Aspergillus, Rhizopus, and Mucor spp. are the most common causes. We also describe the cutaneous manifestations of disseminated fungal infections (v). These infections usually occur in the setting of prolonged neutropenia. The most common causes are Candida, Aspergillus, and Fusarium spp. Therapy is with systemic antifungal therapy. The relative efficacies of amphotericin B, fluconazole, itraconazole, voriconazole, and caspofungin are discussed. Recovery from disseminated fungal infections is unlikely, however, unless the patient's neutropenia resolves.
Am J Clin Dermatol 2006
PMID:Cutaneous fungal infections in the oncology patient: recognition and management. 1648 41

Four patients with stable or progressive cutaneous T-cell lymphoma treated with oral bexarotene received oral rosiglitazone. After 16 weeks of combination therapy, skin score decreased in two patients. Pruritus was alleviated in 3 of 4 patients, whereas quality of life was unchanged. Adverse events included hyperlipidemia, anemia, neutropenia, and lymphopenia.
J Am Acad Dermatol 2007 Apr
PMID:Open-label pilot study of combination therapy with rosiglitazone and bexarotene in the treatment of cutaneous T-cell lymphoma. 1718 79

Omenn syndrome is a severe combined immunodeficiency characterized by erythroderma, hepatosplenomegaly, lymphadenopathy and failure to thrive, with activated oligoclonal T lymphocytes and an absence of circulating B cells.A 3 day-old boy presented with a congenital erythroderma. Investigations revealed a marked neutropenia and lymphopenia and the absence of a thymus. Genetic studies showed RAG 1 mutations. He was successfully treated with an HLA identical bone marrow transplantation. Omenn syndrome is a rare severe combined immunodeficiency. Most cases are due to mutations in the RAG genes with autosomal recessive transmission. Our observation is original because of an incomplete clinical presentation. During the course of the disease, the child had no failure to thrive, no organomegaly and no recurrent infection. Immunodeficiency must be excluded in every case of neonatal erythroderma and an immunological assessment should be performed without delay.
Eur J Dermatol
PMID:Omenn syndrome: a rare case of neonatal erythroderma. 1733 97

A 5-year-old boy had a 10-month remission of acute lymphocytic leukemia (ALL) after chemotherapy. Re-induction chemotherapy was performed for relapse of ALL. Thereafter, he suffered from an episode of neutropenic fever with pneumonia. One week following control of the condition with antibiotics, a 1 x 1-cm, red, painful nodule appeared on the left thigh, which was initially suspected to be Pseudomonas infection. Parenteral ceftazidime and amikacin were administered, but persistent high fever, mild cough, and a few painful erythematous papulonodules on the face and lower extremities appeared several days later (Fig. 1). These lesions increased insidiously in diameter up to 2-5 cm with central necrosis. Hemogram showed neutropenia with a shift to the left [white blood cell (WBC) count, 2.1 x 10(9)/L; neutrophil count, 0.21 x 10(9)/L]. A skin biopsy showed heavy growth of hyaline branching septate hyphae in the deep dermis and subcutis, together with fat necrosis (Fig. 2). Invasion of molds into vessels and sweat glands was also seen. A culture from a lesion yielded Fusarium moniliforme, but no fungi were isolated from blood specimens. Only mild infiltrations on bilateral lower lung fields were detected by chest roentgenography. The skin lesions gradually healed and the fever subsided 2 weeks after the initiation of therapy with amphotericin B 30 mg and itraconazole 200 mg daily. Meanwhile, relapse of leukemia was detected by hemogram showing atypical leukocytosis (WBC count of 24,400 x 10(9)/L, with blast cells representing 78%). A course of chemotherapy with cytarabine, mitoxantrone, and VP-16 was prescribed, subsequently resulting in neutropenia (WBC count, < 0.1 x 10(9)/L; neutrophil count, 0/L) and spiking fever. Although the aforementioned antifungal therapy was continued, the centers of the originally healed lesions turned dusky red, swollen, necrotic, and ulcerative. There were more than 10 such ecthymiform lesions. After administration for 22 days, itraconazole was discontinued because of no appreciable effects. Granulocyte colony-stimulating factor (G-CSF) salvage was used, and the neutropenia gradually subsided 20 days later. In addition, the ecthymiform lesions gradually resolved. Amphotericin B was discontinued 1 week following neutrophil recovery. The patient died of Acinetobacter baumannii and Stenotrophomonas maltophilia sepsis 8 months later.
Int J Dermatol 2007 May
PMID:Disseminated cutaneous Fusarium moniliforme infections in a leukemic child. 1747 77


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