McCune-Albright syndrome
| McCune-Albright syndrome | |
| ICD-10 | Q78.1 |
|---|---|
| ICD-9 | 756.54 |
| OMIM | 174800 |
| DiseasesDB | 7880 |
| MedlinePlus | 001217 |
| eMedicine | ped/1386 |
| MeSH | D005359 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Historical Perspective
McCune-Albright syndrome, was first discovered by Donovan James McCune and Fuller Albright a in the year 1937.
Symptoms
It is suspected when two of the three following features are present:[1]
- (autonomous) endocrine hyperfunction such as precocious puberty
- Fibrous dysplasia
- Café-au-lait spots
Presentation
Within the syndrome there are bone fractures and deformity of the legs, arms and skull, different pigment patches on the skin, and early puberty with increased rate of growth.
Polyostotic fibrous dysplasia has different levels of severity. For example one child may be entirely healthy with no outward evidence of bone or endocrine problems, enter puberty at close to the normal age and have no unusual skin pigmentation. The complete opposite of that would be children who are diagnosed in early infancy with the obvious bone disease and obvious increased endocrine secretions from several glands.
Approximately 20-30% of fibrous dysplasias are polyostotic and two thirds of patients are polyostotic before the age of ten.
Polyostotic fibrous dysplasia is usually caused by mosaicism for a mutation in a gene called GNAS1 (Guanine Nucleotide binding protein, Alpha Stimulating activity polypeptide 1).
The syndrome shows a broad spectrum of severity. The disease frequently involves the skull and facial bones, pelvis, spine and shoulder girdle. The sites of involvement are the femur (91%), tibia (81%), pelvis (78%), ribs, skull and facial bones (50%), upper extremities, lumbar spine, clavicle, and cervical spine, in decreasing order of frequency. The craniofacial pattern of the disease occurs in 50% of patients with the polyostotic form of fibrous dysplasia.
Genetics
Genetically, there is a post-zygotic mutation of the gene GNAS1 which is involved in G-protein signalling. This mutation, often a mosaicism, prevents downregulation of cAMP signalling.
See also
References
- ↑ Panza JA, Ellis AM, Al-Khalidi HR, Holly TA, Berman DS, Oh JK; et al. (2019). "Myocardial Viability and Long-Term Outcomes in Ischemic Cardiomyopathy". N Engl J Med. 381 (8): 739–748. doi:10.1056/NEJMoa1807365. PMC 6814246 Check
|pmc=value (help). PMID 31433921.