Lichen amyloidosis is a subtype of primary localized cutaneous amyloidosis (PLCA), which presents as discrete, firm, closely-set 1-3mm, dome-shapedbrown papules commonly involving the anterior aspect of shins and extensor surfaces of forearms. We present a case of an otherwise healthy man in his 30s with solitary facial involvement of lichen amyloidosis, which is very uncommon.
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J Dermatol
December 2024
Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China.
Primary cutaneous amyloidosis (PCA) is a chronic pruritic skin disease. The apple-green birefringence of Congo red-stained amyloid under a polarized light microscope (CR-PLM) remains the gold standard in the diagnosis of PCA. However, there are some limitations to this approach.
View Article and Find Full Text PDFFront Immunol
November 2024
School of Medicine, Tongji University, Shanghai, China.
Lichen amyloidosis (LA) is a predominant type of primary cutaneous amyloidosis that is characterized by persistent and intense skin itching. Although multiple therapeutics strategies are available for its treatment, there is no standard treatment so far. Abrocitinib, an oral small-molecule Janus kinase 1 inhibitor, has been authorized for the treatment of severe atopic dermatitis (AD) and can also provide rapid relief from pruritus.
View Article and Find Full Text PDFClin Pract
October 2024
Department of Endocrinology, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Background: Medullary thyroid carcinoma (MTC), the third most frequent histological type of thyroid malignancy, may be found isolated or as part of multiple endocrine neoplasia type 2 (MEN2). One particular subtype of this autosomal dominant-transmitted syndrome includes an association with cutaneous lichen amyloidosis, although, generally, a tide genotype-phenotype correlation is described in patients who carry proto-oncogene pathogenic variants.
Methods: Our objective was to provide an endocrine perspective of a case series diagnosed with -positive familial MTC associated with cutaneous primary lichen amyloidosis amid the confirmation of MEN2.
Cureus
October 2024
Endocrinology, Diabetes, and Metabolism, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, PRT.
Cushing disease (CD), a rare endocrine disorder characterized by a pituitary adenoma that secretes excess adrenocorticotropic hormone (ACTH), leads to overproduction of cortisol by the adrenal glands and, depending on severity and duration, manifests with a broad spectrum of clinical signs and symptoms, ranging from classical features to more common conditions seen in the general population. Discovery of molecular and pathogenic mechanisms related to the development of CD tumors has increased in recent years, almost two-thirds of the somatic variants cases have been linked to the USP8 gene, while very rare germline variants in MEN1 and AIP genes have been associated with pituitary adenomas. Variants affecting the RET proto-oncogene, which encodes a receptor tyrosine kinase involved in cell growth and differentiation, are implicated in the development of medullary thyroid carcinoma (MTC) and its hereditary form, multiple endocrine neoplasia type 2 (MEN2).
View Article and Find Full Text PDFJAAD Case Rep
November 2024
Department of Dermatology, Temple University Lewis Katz School of Medicine, Philadelphia, Pennsylvania.
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