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1.
J Med Case Rep ; 18(1): 299, 2024 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-38902812

RESUMO

BACKGROUND: Granuloma annulare is a noninfectious inflammatory granulomatous skin disease characterized by an erythematous or skin colored annulare plaque. The diagnosis of granuloma annulare may be challenging owing to its diverse morphology. In such cases, a correlation between the clinical findings and histologic findings are necessary. CASE PRESENTATION: We report a case of granuloma annulare after purified protein derivative administration. A 56-year-old Caucasian female patient complained of mildly pruritic rashes which started on both arms and lower extremities, and eventually spread to both thighs, the left popliteal region, left upper back, and the right abdominal area. About 6 weeks prior to the eruption of the rashes, the patient had been given a purified protein derivative tuberculin skin test. Biopsy specimens revealed dermal histiocytes palisading around areas of mucin and degenerated collagen, confirming granuloma annulare. After treatment with 0.1% topical triamcinolone acetanide and 500 mg oral metronidazole, the patient's lesions resolved. DISCUSSION: Relatively little is known about granuloma annulare's exact etiology. Granuloma annulare has four variations presenting as either localized, generalized, subcutaneous, or perforating and patch granuloma annulare. The clinical prognosis for granuloma annulare varies according to clinical subtypes. Proposed causal mechanisms of subcutaneous granuloma annulare include physical trauma, infections, immunizations, insect bites, diabetes mellitus, and alterations in the cell-mediated immune responses. The disease likely has an inflammatory component. Clinically, granuloma annulare may be confused with many other skin diseases. CONCLUSION: This case of subcutaneous granuloma annulare was reported since it is a rare dermatologic pathological condition that can be confused with other skin rash disorders. Although it is a benign self-limited disease, definitive diagnosis is important to rule out other pathologies with similar clinical appearances, such as cancer or human immunodeficiency virus (HIV) infection. Diagnostic confirmation is best made through skin biopsy.


Assuntos
Granuloma Anular , Humanos , Granuloma Anular/diagnóstico , Granuloma Anular/patologia , Granuloma Anular/tratamento farmacológico , Feminino , Pessoa de Meia-Idade , Resultado do Tratamento
3.
Fetal Pediatr Pathol ; 23(4): 251-5, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-16095036

RESUMO

We report a very rare constitutional interstitial deletion of chromosome 1p defined within 1p34.3-36.11 bands with an intact pter. The diagnosis was made by standard cytogenetics and fluorescence in situ hybridization (FISH) studies on a cordocentesis specimen obtained at 21 weeks gestation. Termination of pregnancy was performed at 22 weeks gestation due to the ultrasound diagnosis of congenital heart disease. Autopsy confirmed congenital heart disease (cardiomegaly, Ebstein's anomaly, secundum atrial septal defect, subendocardial fibroelastosis), pulmonary lymphangiectasis, a high arched palate, short neck, and bilateral long proximally implanted thumbs. To our knowledge, this is the first case of del(1) (p34.3p36.11) diagnosed prenatally.


Assuntos
Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Aberrações Cromossômicas , Deleção Cromossômica , Cromossomos Humanos Par 1/genética , Adulto , Feminino , Feto , Humanos , Gravidez , Diagnóstico Pré-Natal , Cariotipagem Espectral
4.
Am J Hematol ; 74(2): 112-8, 2003 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-14508797

RESUMO

The majority of follicular lymphoma and Burkitt's lymphoma are associated with reciprocal translocations involving BCL2 and cMYC, respectively. Unusual reports of aggressive lymphoma presenting with both translocations have been described as well as rare cases with a third structural alteration usually involving BCL6. The patient described here presented with aggressive high-grade lymphocytic leukemia, FAB subtype L2 (ALL-L2), and three reciprocal translocations, t(14;18)(q32;q21), t(8;14)(q24.1;q32), and t(1;2) (q22-23;p13). Despite immature morphology the leukemic blasts had a mature B-cell phenotype; they were positive for surface immunoglobulin heavy chains and negative for CD34, TdT, and CD10. Most reported dual t(14;18)/t(8;14) cases have not shown sIg and were positive for CD10. Molecular genetic analyses showed the typical rearrangements of BCL2 and cMYC as well as the FCGR2B gene on chromosome 1q23. The occurrence of a third oncogene rearrangement in association with the dual BCL2, cMYC translocations in ALL patients is very rare. To our knowledge, this is the first case where the third hit involves the FCGR2B locus. This report reiterates the poor prognosis associated with activation of cMYC together with elevated Bcl-2 expression. These data also support recent evidence that dysregulation of FCGR2B may play a role in tumor progression.


Assuntos
Genes bcl-2/genética , Genes myc/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Translocação Genética , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Análise Citogenética , Evolução Fatal , Humanos , Imunofenotipagem , Masculino , Biologia Molecular , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/fisiopatologia , Translocação Genética/genética
5.
Cancer Genet Cytogenet ; 139(1): 75-7, 2002 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-12547165

RESUMO

Abnormalities of chromosome 7 are a frequent finding in myelocytic malignancies and are associated with a poor prognosis. Based on chromosome banding analysis, two critical regions have been identified: one in band 7q22 and the second in region 7q32 approximately q35. The chromosomal breakpoint in band 7q22 appears to be heterogeneous and may involve tumor suppressor gene(s). Constitutional rearrangements of 7q22 have rarely been reported in myeloid malignancies. To our knowledge, this is the first report in the literature of a myeloproliferative disorder with a constitutional t(1;7)(q42;q22).


Assuntos
Cromossomos Humanos Par 7 , Rearranjo Gênico , Leucemia Mieloide/genética , Adulto , Bandeamento Cromossômico , Mapeamento Cromossômico , Feminino , Genes Supressores de Tumor , Humanos , Cariotipagem , Nova Escócia , População Branca
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