RESUMO
Sitosterolemia is an autosomal recessive and very rare disease. Its main characteristic is that there is a greater absorption and a decrease in the excretion of sterols, which leads to them being deposited in tissues. It is given by mutations in the ABCG5 or ABCG8 genes found on chromosome 2p21. In this clinical note, we describe the first two patients with familial sitosterolemia described in Colombia, brothers, one of them with xanthomas in extremities as the only symptom, and the other, completely asymptomatic. Genetic studies were performed as a diagnostic test in both patients, where a pathogenic homozygous variant could be identified in the ABCG8 gene in the first case (symptomatic), and a heterozygous variant in the ABCG8 gene in the second case (asymptomatic); the first patient has responded to treatment with ezetimibe. In conclusion, xanthomas should be studied in depth in pediatric age as they may be the only visible sign of such complex and hereditary diseases as familial sitosterolemia, which can be controlled and prevent cardiovascular complications of the disease.
Assuntos
Membro 8 da Subfamília G de Transportadores de Cassetes de Ligação de ATP , Ezetimiba , Hipercolesterolemia , Enteropatias , Erros Inatos do Metabolismo Lipídico , Fitosteróis , Humanos , Erros Inatos do Metabolismo Lipídico/genética , Erros Inatos do Metabolismo Lipídico/diagnóstico , Masculino , Colômbia , Fitosteróis/efeitos adversos , Fitosteróis/genética , Enteropatias/genética , Enteropatias/diagnóstico , Membro 8 da Subfamília G de Transportadores de Cassetes de Ligação de ATP/genética , Hipercolesterolemia/genética , Hipercolesterolemia/tratamento farmacológico , Hipercolesterolemia/diagnóstico , Ezetimiba/uso terapêutico , Xantomatose/genética , Xantomatose/patologia , Xantomatose/diagnóstico , Anticolesterolemiantes/uso terapêutico , Anticolesterolemiantes/administração & dosagem , Mutação , Membro 5 da Subfamília G de Transportadores de Cassetes de Ligação de ATP/genética , Homozigoto , Criança , Heterozigoto , Lipoproteínas/genéticaRESUMO
Intracranial xanthogranulomas (XGs) have been found at various sites, but xanthogranuloma of the sellar region is extremely rare. We report about a case of sellar XG in a 34-year-old female. Magnetic resonance imaging showed a solid-cystic mass located at the sella turcica. The cystic component was hyperintense on the T1-weighted image (WI) and T2WI. The solid component was hyperintense on T1WI and hypointense on T2WI. There was peripheral enhancement after gadolinium administration. The diagnosis of cystic macroadenoma was considered before surgery. Final diagnosis of XG was confirmed by histopathological examination after surgical resection. Gross total resection of the lesion was achieved using the microscope through endoscopic endonasal transsphenoidal approach. The patient had a good outcome and no symptom of diabetes insipidus, hormonal evaluation did not show any alterations compatible with hypopituitarism and prolactin levels were normal XG should receive diagnostic consideration for the sellar mass lesions with cystic components hyperintense on T1WI and T2WI, solid components hyperintense on T1WI and hypointense on T2WI, and CT without evidence of calcifications. It is important to consider the possibility of XG when pertinent, as it facilitates a proper surgical approach strategy.
Assuntos
Neoplasias Hipofisárias , Xantomatose , Feminino , Humanos , Adulto , Imageamento por Ressonância Magnética , Sela Túrcica/diagnóstico por imagem , Sela Túrcica/cirurgia , Sela Túrcica/patologia , Endoscopia , Granuloma/patologia , Xantomatose/diagnóstico por imagem , Xantomatose/cirurgia , Xantomatose/patologia , Neoplasias Hipofisárias/diagnóstico por imagem , Neoplasias Hipofisárias/cirurgiaRESUMO
Verruciform xanthoma (VX) is a rare benign lesion of unknown etiology, with a rough or papillary aspect, painless, sessile, well-defined, most lesions do not exceed 2 cm in their largest diameter, the degree of keratinization of the surface influences color, varying white to red, affecting mainly the gingiva and alveolar mucosa, and can also be seen in skin and genital. Herein, we present a report a clinical case of oral verruciform xanthoma in the buccal mucosa associated with the lichen planus lesion, as well as the morphological and immunohistochemical characteristics of the lesion. The clinical diagnostic hypothesis of oral lichen planus of the white reticular lesions on the buccal mucosa and on the tongue was confirmed by histopathology before a subepithelial connective tissue exhibiting intense inflammatory infiltrate in a predominantly lymphocytic band. In contrast, the hypothesis of the verrucous lesion in the left buccal mucosa was leukoplakia, with histopathological evidence showing exophytic and digitiform proliferations with parakeratin plugs between the papillary projections. Subepithelial connective tissue was characterized by macrophages with foamy cytoplasm (xanthoma cells). An immunohistochemical examination was performed, showing positivity for CD68, a macrophage marker, in addition to testing by Schiff's periodic acid (PAS) with diastasis, which was detected the presence of lipids inside these macrophages. The patient is free of recurrences of verruciform xanthoma and is being monitored due to the presence of lesions of oral lichen planus.
Assuntos
Humanos , Feminino , Idoso , Xantomatose/complicações , Líquen Plano Bucal/complicações , Imuno-Histoquímica , Xantomatose/patologia , Líquen Plano Bucal/patologia , Mucosa Bucal/patologiaRESUMO
ABSTRACT: Immunohistochemistry is useful and often necessary for the diagnosis of many histopathological entities, including atypical fibroxanthoma (AFX), which is typically considered a diagnosis of exclusion after ruling out spindle cell melanoma, sarcomatoid carcinoma, and other spindle cell tumors. AFX is a superficial fibrohistiocytic tumor previously believed to be related to pleomorphic sarcoma (formerly known as malignant fibrous histiocytoma), but is now considered a distinct clinicopathological entity. AFXs commonly express CD68, smooth muscle actin, and lysozyme and are usually negative for melanocytic markers such as HMB45 and S100. However, immunohistochemistry can sometimes be misleading, especially when used without other relevant markers in making a histopathologic diagnosis. HMB45 is a glycoprotein marker of premelanosomes and is often helpful in identifying melanoma because it stains melanosomes in the epidermis, dermis, and nevi glycocomplexes. We report a case of AFX which was strongly positive for HMB45, but negative for all other melanocytic markers. This case emphasizes the potential pitfall of relying on a single immunohistochemical marker to make the diagnosis, especially of melanoma, and also is one of the only rare reported cases of AFXs which are HMB45+.
Assuntos
Biomarcadores Tumorais/metabolismo , Fibroma/patologia , Neoplasias Cutâneas/patologia , Xantomatose/patologia , Antígeno gp100 de Melanoma/metabolismo , Idoso , Fibroma/diagnóstico , Humanos , Masculino , Neoplasias Cutâneas/diagnóstico , Coloração e Rotulagem , Xantomatose/diagnósticoAssuntos
Hepatite C/patologia , Histiocitose de Células não Langerhans/patologia , Dermatopatias/patologia , Xantomatose/patologia , Derme/fisiologia , Hepatite C/complicações , Histiocitose de Células não Langerhans/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Raras , Dermatopatias/etiologia , Xantomatose/etiologiaAssuntos
Humanos , Masculino , Dermatopatias/patologia , Xantomatose/patologia , Histiocitose de Células não Langerhans/patologia , Hepatite C/patologia , Dermatopatias/etiologia , Xantomatose/etiologia , Histiocitose de Células não Langerhans/etiologia , Hepatite C/complicações , Derme/fisiologia , Doenças Raras , Pessoa de Meia-IdadeRESUMO
Atypical Fibroxanthoma is an unusual dermal mesenchymal tumor. It especially affects older adults and occurs in areas of sun exposure. We report a 75 years old male with a history of sun exposure without using a hat presenting with a scalp nodule. An incisional biopsy showed an atypical fibroxantoma. In a new surgical procedure, the tumor was completely excised. The tumor relapsed in two occasions after subsequent excisions and the patient was treated with adjuvant radiotherapy avoiding new relapses.
Assuntos
Humanos , Masculino , Idoso , Couro Cabeludo/patologia , Neoplasias Cutâneas/patologia , Xantomatose/patologia , Neoplasias Cutâneas/radioterapia , Biópsia , Xantomatose/radioterapia , Resultado do TratamentoRESUMO
A 32-year-old man presented to the dermatology department with generalized asymptomatic yellowish papules on an erythematous base, arms, thighs, and buttocks. These lesions had appeared in the previous month (Figure 1). Dermoscopy revealed a homogeneous yellow color, corresponding to dermal xanthomatous deposits, with interconnected fine and dotted vessels (Figure 2). The laboratory findings showed extremely high levels of triglycerides (4.842 mg/dL; normal <150), as well as increased total cholesterol (576 mg/dL; normal <200), fasting blood glucose (294 mg/dL), and glycated hemoglobin 12.3% (normal range 4% to 6%). A skin biopsy demonstrated foamy cells, with extracellular lipid between collagen bundles in the dermis (Figure 3).
Assuntos
Complicações do Diabetes/complicações , Hipertrigliceridemia/etiologia , Xantomatose/etiologia , Xantomatose/patologia , Adulto , Biópsia , Dermoscopia , Complicações do Diabetes/diagnóstico , Humanos , Masculino , Pele/patologia , Xantomatose/diagnóstico por imagemRESUMO
Atypical Fibroxanthoma is an unusual dermal mesenchymal tumor. It especially affects older adults and occurs in areas of sun exposure. We report a 75 years old male with a history of sun exposure without using a hat presenting with a scalp nodule. An incisional biopsy showed an atypical fibroxantoma. In a new surgical procedure, the tumor was completely excised. The tumor relapsed in two occasions after subsequent excisions and the patient was treated with adjuvant radiotherapy avoiding new relapses.