McCune-Albright syndrome 3290998 216403777 2008-06-01T14:13:31Z Filip em 7200976 pl:Zespół McCune'a-Albrighta {{Infobox_Disease | Name = McCune-Albright syndrome | Image = | Caption = | DiseasesDB = 7880 | ICD10 = {{ICD10|Q|78|1|q|65}} | ICD9 = {{ICD9|756.54}} | ICDO = | OMIM = 174800 | MedlinePlus = 001217 | eMedicineSubj = ped | eMedicineTopic = 1386 | MeshID = D005359 | }} '''McCune-Albright syndrome''' ('''polyostotic fibrous dysplasia'''), described in [[1937]] by [[Donovan James McCune]] and [[Fuller Albright]],<ref>{{WhoNamedIt|synd|1844}}</ref> is a [[genetic disorder]] of bones, skin [[pigmentation]] and hormonal problems along with premature [[puberty]]. ==Symptoms== It is suspected when two of the three following features are present: * (autonomous) [[endocrine]] hyperfunction such as [[precocious puberty]] * [[Fibrous dysplasia]] * [[Café-au-lait spot]]s ==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-[[zygote|zygotic]] [[mutation]] of the [[gene]] [[GNAS1]] which is involved in [[G-protein]] signalling. This mutation, often a [[mosaicism]], prevents [[downregulation]] of [[Cyclic adenosine monophosphate|cAMP]] signalling. ==Notable cases== The disease made headlines in December, 2005 when a [[Haiti]]an teen afflicted with the disease, [[Marlie Casseus]], underwent a 17-hour emergency surgical procedure to remove a 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.<ref>{{cite web |url=http://www.internationalkidsfund.org/ikf_kids/details.cfm?KD_ID=123 |title=Marlie Casseus |accessdate=2007-07-14 |format= |work=}}</ref> ==See also== * [[Fibrous dysplasia]] ==References== <references/> ==External links== *[http://www.medterms.com/script/main/art.asp?articlekey=11362 Medterms.com] *[http://www.le.ac.uk/genetics/maa7/GNAS1/ GNAS gene] * [http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=McCune%20Albright%20Syndrome NORD] * [http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=189 GFMER] {{Congenital malformations and deformations of musculoskeletal system}} [[Category:Genetic disorders]] [[es:Síndrome de McCune-Albright]] [[it:Sindrome di McCune-Albright-Sternberg]] [[pl:Zespół McCune'a-Albrighta]]