An adolescent boy presents with endocrinopathy, fibrous dysplasia of bone and hyperpigmentation. The probable diagnosis is :
Ans-BRef: Robbins Pathologic Basis of Disease, 8th editionExplanation:McCune Albright syndromeIt is characterized by the triad ofPolyostotic fibrous dysplasiaCafe-au-lait skin pigmentationMultiple EndocrinopathiesThe endocrinopathies include:Sexual precocityHyperthyroidismPituitary adenomas secreting GH Primary adrenal hyperplasiaThe severity depends on the presence of GjVAS gene mutationThe most common clinical presentation is precocious sexual development, esp in girls.The bone lesions are often unilateral as sc with same-sided skin pigmentationThe cutaneous macules are classically large; are dark to cafe-au-lait: have irregular serpiginous borders (coastline of Maine)The cafe au lait patches are found primarily on the:NeckChestBackShoulderPelvic regionAlagille Syndrome (aka Syndromatic Paucity of Bile Ducts; Arteriohepatic Dysplasia)Autosomal dominant multi-organ disorderLiver pathology is characterized by the absence of bile ducts in portal tracts.Mutations or deletion of the gene encoding Jagged1. on chromosome 20p.Jagged 1 is a cell surface protein that functions as a ligand for Notch receptorsJagged mutations in 94% & remaining patients have mutations in the Notch 2 receptor geneAffected patients have five major clinical features:Chronic cholestasisPeripheral stenosis of the pulmonary arteryButterfly-like vertebral arch defectsPosterior embryotoxon in the eyePeculiar hype tie lie facies* Patients can survive into adulthood hut are at risk for hepatic failure and hepatocellular carcinoma.MULTIPLE ENDOCRINE NEOPLASIAMEN I Wermers syndromeMEN II* Parathyroid tumors* Pituitary adenomas* Islet cell hyperplasia* ZE syndrome* Insulinoma* Glucagonoma* Pancreatic cholera* Medullary Ca of thyroid* PheochromocytomaMEN-II A (Sipple syndrome)* Hyper para thyroidism* Parathyroid adenoma* Cutaneous lichen amyloidosis* Hirschsprung disease* FMTC (familial medullary thyroid Case)Other manifestations:* Foregut carcinoid* Pheochromocytoma* Lipomas* AngiofibromasMEN - II B syndrome* Marfanoid habitus* Mucosal neuromas* GIT neuromas
Alagille syndrome
McCune Albright syndrome
MEN Type 1
MEN Type 2