McCune-Albright syndrome

McCune-Albright syndrome

Infobox_Disease
Name = McCune-Albright syndrome


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, [WhoNamedIt|synd|1844] is a genetic disorder of bones, skin pigmentation and hormonal problems along with premature puberty.

ymptoms

It is suspected when two of the three following features are present:

* (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.

Notable cases

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 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. [cite web |url=http://www.internationalkidsfund.org/ikf_kids/details.cfm?KD_ID=123 |title=Marlie Casseus |accessdate=2007-07-14 |format= |work=]

ee also

* Fibrous dysplasia

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]


Wikimedia Foundation. 2010.

Игры ⚽ Нужен реферат?

Look at other dictionaries:

  • 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,… …   Wikipedia

  • McCune-Albright syndrome — A genetic disorder of bones, skin pigmentation and hormonal problems with premature sexual development. Also called Albright syndrome or polyostotic fibrous dysplasia. In the syndrome, there is bone disease with fractures and deformity of the… …   Medical dictionary

  • McCune-Albright syndrome — polyostotic fibrous dysplasia of long bones coupled with café au lait spots and precocious puberty, occurring in both males and females [J. McCune (1902–76), US paediatrician; F. Albright (1900–69), US physician] …   The new mediacal dictionary

  • Albright syndrome — 1. A genetic disorder of bones, skin pigmentation and hormonal problems with premature sexual development. Also called McCune Albright syndrome and polyostotic fibrous dysplasia. In the syndrome, there is bone disease with fractures and deformity …   Medical dictionary

  • McCune-Albright-Syndrom — Fibröse Dysplasie ist eine chronische Fehlbildung des Knochens, bei der der Knochen nicht in seiner üblichen Zellstruktur wächst, sondern geschwulstartige Auswüchse mit unregelmäßiger Zellstruktur bildet. Es handelt sich dabei wie bei allen… …   Deutsch Wikipedia

  • Albright-Syndrom — Fibröse Dysplasie ist eine chronische Fehlbildung des Knochens, bei der der Knochen nicht in seiner üblichen Zellstruktur wächst, sondern geschwulstartige Auswüchse mit unregelmäßiger Zellstruktur bildet. Es handelt sich dabei wie bei allen… …   Deutsch Wikipedia

  • McCune-Aulbright-Syndrom — Fibröse Dysplasie ist eine chronische Fehlbildung des Knochens, bei der der Knochen nicht in seiner üblichen Zellstruktur wächst, sondern geschwulstartige Auswüchse mit unregelmäßiger Zellstruktur bildet. Es handelt sich dabei wie bei allen… …   Deutsch Wikipedia

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Albright — Fuller, U.S. physician, 1900–1969. See A. disease, A. syndrome, A. hereditary osteodystrophy, Forbes A. syndrome, McCune A. syndrome …   Medical dictionary

  • McCune — Donovan James, U.S. pediatrician, 1902–1976. See M. Albright syndrome …   Medical dictionary

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”