A particular case of macronodular isolated sarcoidosis with neurological and ocular involvement is presented, associated with pseudo-balding. A revision of the most important aspects of the diagnostic of this multifaceted disease is realized. The benefits of a surgical treatment for the cases of isolated nodes are pointed out.
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The molecular genetics of adrenal cushing.
Hormones (Athens)
December 2024
Genomic and Signaling of Endocrine Tumors team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, Paris, 75005, France.
Article Synopsis
- - Adrenal Cushing accounts for 20% of cases of hypercorticism, with unilateral cortisol-producing adenomas (benign tumors) being more common than malignant adrenocortical carcinoma (ACC) and bilateral adrenal diseases.
- - Key signaling pathways involved in these tumors include protein kinase A and Wnt/β-catenin, with genetic predispositions identified through research on familial cases and pangenomic sequencing.
- - ACC is often linked to TP53 mutations, particularly in children, and can be associated with various hereditary syndromes, while cortisol-producing adenomas show mutations primarily in PRKACA and CTNNB1.
Somatic Molecular Heterogeneity in Bilateral Macronodular Adrenocortical Disease (BMAD) Differs Among the Pathological Subgroups.
Endocr Pathol
September 2024
Paris-Cité University, Cochin Institute CNRS UMR8104, Inserm U1016, 24 Rue du Faubourg Saint Jacques, 75014, Paris, France.
Bilateral macronodular adrenocortical disease (BMAD) is an uncommon cause of Cushing's syndrome leading to bilateral macronodules. Isolated BMAD has been classified into three molecular groups: patients with ARMC5 alteration, KDM1A alteration, and patients without known genetic cause. The aim of this study was to identify by NGS, in a cohort of 26 patients with BMAD, the somatic alterations acquired in different nodules after macrodissection from patients with germline ARMC5 or KDM1A alterations and to analyze potential somatic alterations in a panel of five other genes involved in adrenal pathology (GNAS, PDE8B, PDE11A, PRKAR1A, and PRKACA).
View Article and Find Full Text PDFBilateral Adrenocortical Nodular Disease and Cushing's Syndrome.
J Clin Endocrinol Metab
September 2024
Department of Endocrinology and National Reference Center for Rare Adrenal Diseases, Hôpital Cochin, Assistance Publique Hôpitaux de Paris, F-75014 Paris, France.
Primary pigmented nodular adrenocortical disease (PPNAD) and bilateral macronodular adrenocortical disease (BMAD) are 2 forms of adrenocortical nodular diseases causing Cushing's syndrome but are 2 very distinct conditions. PPNAD, affecting mostly young patients with an almost constant severe Cushing's syndrome, is characterized by pigmented micronodules, usually less than 1 cm, not always visible on imaging. On the contrary, BMAD is predominantly diagnosed in the fifth and sixth decades, with highly variable degrees of cortisol excess, from mild autonomous cortisol secretion to overt Cushing's syndrome.
View Article and Find Full Text PDFSevere osteoporosis in a young man with bilateral Cushing's syndrome: a case report.
J Med Case Rep
June 2023
Serviço de Endocrinologia, Hospital Universitário da Universidade Federal de Juiz de Fora, Juiz de Fora, Minas Gerais, Brazil.
Background: The diagnosis of Cushing's syndrome is challenging; however, through the clinical picture and the search for secondary causes of osteoporosis, it was possible to reach the diagnosis of the case reported. There was an independent, symptomatic ACTH hypercortisolism manifested by typical phenotypic changes, severe secondary osteoporosis and arterial hypertension in a young patient.
Case Presentation: A 20-year-old Brazilian man with low back pain for 8 months.
A buccal mucosa ulcer as the first sign of tuberculosis.
J Oral Maxillofac Pathol
October 2022
Department of Stomatology, Faculty of Dentistry, Universidade de São Paulo (USP), Sao Paulo, SP, Brazil.
Tuberculosis (TB) is an infectious disease caused mostly by . Oral lesions caused by this disease are not common, and most of them represent secondary involvement of the initial pulmonary focus. Therefore, the discovery of lung tuberculosis because of the investigation of oral lesions is rare.
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