- McCune–Albright syndrome
McCune-Albright syndrome Classification and external resources
Café-au-lait skin pigmentation.
A) A typical lesion on the face, chest, and arm of a 5-year-old girl with McCune-Albright syndrome which demonstrates jagged "coast of Maine" borders, and the tendency for the lesions to both respect the midline and follow the developmental lines of Blaschko.
B) Typical lesions that are often found on the nape of the neck and crease of the buttocks are shown (arrows).
ICD-10 Q78.1 ICD-9 756.54 OMIM 174800 DiseasesDB 7880 MedlinePlus 001217 eMedicine ped/1386 MeSH D005359
It is suspected when two of the three following features are present:
- (autonomous) endocrine hyperfunction such as precocious puberty
- Polyostotic fibrous dysplasia
- Unilateral Café-au-lait spots
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.
The disease made headlines in December, 2005 when a Haitian teen afflicted with the disease, Marlie Casseus, underwent a 17-hour emergency surgical procedure to remove a 7 kg (16 pound) tumour-like growth of bone from her face. A series of operations at Holtz Children's Hospital in Miami, Florida restored the child's face to a more normal proportion.
- Fibrous dysplasia
- List of cutaneous conditions
- ^ synd/1844 at Who Named It?
- ^ McCune DJ, Bruch H (1937). "Progress in pediatrics: osteodystrophia fibrosa". Am. J. Dis. Child. 54: 806–848.
- ^ Albright F, Butler AM, Hampton AO, Smith P (1937). "Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: report of five cases". New Eng. J. Med. 216 (17): 727–746. doi:10.1056/NEJM193704292161701.
- ^ Collins MT, Sarlis NJ, Merino MJ, et al. (September 2003). "Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations". J. Clin. Endocrinol. Metab. 88 (9): 4413–7. doi:10.1210/jc.2002-021642. PMID 12970318. http://jcem.endojournals.org/cgi/pmidlookup?view=long&pmid=12970318.
- ^ "Marlie Casseus". Archived from the original on 2007-05-29. http://web.archive.org/web/20070529015047/http://www.internationalkidsfund.org/ikf_kids/details.cfm?KD_ID=123. Retrieved 2007-07-14.
Osteochondrodysplasia (Q77–Q78, 756.4–756.5) Osteodysplasia/
(including dwarfism)Other dwarfism
Deficiencies of intracellular signaling peptides and proteins GTP-binding protein regulatorsGTPase-activating protein G proteinARF: SAR1B (Chylomicron retention disease) ARL13B (Joubert syndrome 8) · ARL6 (Bardet–Biedl syndrome 3) MAP kinase Other kinase/phosphatase Signal transducing adaptor proteins Other
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