The evaluation of Congo red staining combined with fluorescence microscopy in the diagnosis of primary cutaneous amyloidosis.

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.

Case report: Abrocitinib: a potential therapeutic option for lichen amyloidosis associated with atopic dermatitis.

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.

Endocrine Perspective of Cutaneous Lichen Amyloidosis: -C634 Pathogenic Variant in Multiple Endocrine Neoplasia Type 2.

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.

A Case of Cushing's Disease and a RET Pathogenic Variant: Exploring Possible Rare Associations.

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).

Molecular diagnostic approaches in detecting rearranged during transfection oncogene mutations in multiple endocrine neoplasia type 2.

Different types of neuroendocrine cancer, including medullary thyroid cancer (MTC) and thyroid C-cell hyperplasia, are part of multiple endocrine neoplasia type 2 (MEN2). A proto-oncogene mutation of the rearranged during transfection () gene changes the way that receptor tyrosine kinases work. Multiple endocrine neoplasia, a pathological condition, involves these kinases.

Living with a RET gene mutation: patient perspectives.

Multiple endocrine neoplasia type 2 (MEN2) is the collective term for two distinct types of autosomal dominantly inherited neuroendocrine neoplasm syndromes: MEN2A and MEN2B (or MEN3). MEN2 is characterised by medullary thyroid cancer (MTC) (99%) and phaeochromocytoma (50%) and also other conditions according to specific genotype. MEN2A also includes a 25% risk of developing parathyroid hyperplasia and is now recognised as four separate syndromes: classic MEN2A, MEN2A with cutaneous lichen amyloidosis, MEN2A with Hirschsprung's disease and familial MTC.