Rishi Desai, MD, MPH

McCune-Albright syndrome

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SIGNS & SYMPTOMS ▪ Intellectual disability, learning difﬁculties ▪ Hepatosplenomegaly Cholestasis ▪ Jaundice, pruritus, xanthomas (cholesterol deposits in skin) Facial features ▪ Triangular face, prominent forehead, hypertelorism (widely-spaced eyes), deepset eyes, upslanting eyelids, long nose with bulbous tip, large ears, prominent mandible, pointed chin; more prominent with age Growth deﬁciency ▪ Short stature  DIAGNOSIS DIAGNOSTIC IMAGING Spinal X-ray ▪ Butterﬂy-shaped vertebrae, hemivertebrae, spina biﬁda occulta  LAB RESULTS  ▪ ↑ bilirubin (total, conjugated), ↑ liver enzymes, ↑ cholesterol ▪ Liver biopsy: intrahepatic bile duct paucity, portal inﬂammation  OTHER DIAGNOSTICS  ▪ History, clinical examination ▪ Genetic tests  TREATMENT MEDICATIONS  ▪ Choleretic agents: ursodeoxycholic acid + cholestyramine/rifampin/naltrexone  SURGERY  ▪ Biliary diversion/liver transplantation ▪ Heart defect surgical repair  OTHER INTERVENTIONS ▪ Nutritional support  Abdominal ultrasound ▪ Kidneys: small, echogenic, presence of cysts, ureteropelvic obstruction  MCCUNE–ALBRIGHT SYNDROME osms.it/mccune-albright_syndrome PATHOLOGY & CAUSES ▪ Genetic disorder characterized by ﬁbrous dysplasia (FD), endocrinopathy, unilateral café-au-lait skin spots ▪ Occurs most commonly in skull base/ proximal femur; most lesions appear < age 15 ▪ External beam radiotherapy: ↑ risk of malignant transformation ▪ More common among individuals who are biologically female  164 OSMOSIS.ORG  ▪ Post zygotic mutation in GNAS1 gene (20q.13.1-13.2) ▫ Encodes Gs alpha protein → G protein/ cAMP/adenylate cyclase signaling pathway ▪ Somatic mosaicism: some somatic cells mutated  COMPLICATIONS  ▪ Pathologic fractures; osteosarcoma; osteomalacia; visual/hearing disturbances (due to nerve compression); severe pain; scoliosis; ovarian cysts; acromegaly,   

Cellular structure and function

Cell membrane

Selective permeability of the cell membrane

Extracellular matrix

Cell-cell junctions

Endocytosis and exocytosis

Osmosis

Resting membrane potential

Nernst equation

Cytoskeleton and intracellular motility

Cell signaling pathways

Cellular biology

Leukodystrophy

Adrenoleukodystrophy (NORD)

Zellweger spectrum disorders (NORD)

Primary ciliary dyskinesia

Alport syndrome

Ehlers-Danlos syndrome

Osteogenesis imperfecta

Marfan syndrome

Vitamin C deficiency

Peroxisomal disorders: Pathology review

Disorders of cellular biology

Nuclear structure

DNA structure

Transcription of DNA

Translation of mRNA

Gene regulation

Epigenetics

Amino acids and protein folding

Protein structure and synthesis

Nucleotide metabolism

DNA replication

Lac operon

DNA damage and repair

Cell cycle

Mitosis and meiosis

DNA mutations

Molecular biology

Lesch-Nyhan syndrome

Orotic aciduria

Adenosine deaminase deficiency

Xeroderma pigmentosum

Li-Fraumeni syndrome

Bloom syndrome

Fanconi anemia

Acute radiation syndrome

Purine and pyrimidine synthesis and metabolism disorders: Pathology review

Disorders of molecular biology

Polymerase chain reaction (PCR) and reverse-transcriptase PCR (RT-PCR)

Gel electrophoresis and genetic testing

ELISA (Enzyme-linked immunosorbent assay)

Karyotyping

DNA cloning

Fluorescence in situ hybridization

Laboratory techniques

McCune-Albright syndrome

Videos

Notes