McCune–Albright syndrome

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

McCune–Albright syndrome, described in 1937 by Donovan James McCune and Fuller Albright,[1][2][3] is a genetic disorder of bones, skin pigmentation and hormonal problems along with premature puberty.

Contents

Symptoms

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

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.[4] This mutation, often a mosaicism, prevents downregulation of cAMP signalling.

Notable cases

Mauricio Saravia, a Uruguayan poet with the disease

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.[5]

See also

References

  1. ^ synd/1844 at Who Named It?
  2. ^ McCune DJ, Bruch H (1937). "Progress in pediatrics: osteodystrophia fibrosa". Am. J. Dis. Child. 54: 806–848. 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ "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. 

External links

v · d · eOsteochondrodysplasia (Q77–Q78, 756.4–756.5)
Osteodysplasia/
osteodystrophy
Metaphyseal dysplasia · Jansen's metaphyseal chondrodysplasia · Schmid metaphyseal chondrodysplasia
Other/ungrouped
FLNB (Boomerang dysplasia) · Opsismodysplasia · Polyostotic fibrous dysplasia (McCune-Albright syndrome)
Chondrodysplasia/
chondrodystrophy
(including dwarfism)
enchondromatosis (Ollier disease, Maffucci syndrome)
Other dwarfism

M: BON/CAR

anat(c/f/k/f, u, t/p, l)/phys/devp/cell

noco/cong/tumr, sysi/epon, injr

proc, drug(M5)
v · d · eDeficiencies of intracellular signaling peptides and proteins
GTP-binding protein regulators
GTPase-activating protein
Marinesco–Sjögren syndrome · Aarskog–Scott syndrome · Juvenile primary lateral sclerosis · X-Linked mental retardation 1
G protein

cAMP/GNAS1: Pseudopseudohypoparathyroidism · Progressive osseous heteroplasia · Pseudohypoparathyroidism · Albright's hereditary osteodystrophy · McCune–Albright syndrome

CGL 2
MAP kinase
Other kinase/phosphatase
RPS6KA3 (Coffin-Lowry syndrome) · CHEK2 (Li-Fraumeni syndrome 2) · IKBKG (Incontinentia pigmenti) · STK11 (Peutz–Jeghers syndrome) · DMPK (Myotonic dystrophy 1) · ATR (Seckel syndrome 1) · GRK1 (Oguchi disease 2) · WNK4/WNK1 (Pseudohypoaldosteronism 2)
PTEN (Bannayan–Riley–Ruvalcaba syndrome, Lhermitte–Duclos disease, Cowden syndrome, Proteus-like syndrome) · MTM1 (X-linked myotubular myopathy) · PTPN11 (Noonan syndrome 1, LEOPARD syndrome, Metachondromatosis)
Signal transducing adaptor proteins
Other
NF2 (Neurofibromatosis type II) · NOTCH3 (CADASIL) · PRKAR1A (Carney complex) · PRKAG2 (Wolff–Parkinson–White syndrome) · PRKCSH (PRKCSH Polycystic liver disease) · XIAP (XIAP2)
see also intracellular signaling peptides and proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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Look at other dictionaries:

  • 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 — 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 …   Wikipedia

  • 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

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