Albright syndrome

オルブライト症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/15 13:17:48」(JST)

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[Wiki en表示]

Not to be confused with Albright's hereditary osteodystrophy.

McCune-Albright syndrome
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).
Classification and external resources
Specialty	medical genetics
ICD-10	Q78.1
ICD-9-CM	756.54
OMIM	174800
DiseasesDB	7880
MedlinePlus	001217
eMedicine	ped/1386
Patient UK	McCune–Albright syndrome
MeSH	D005359
Orphanet	562

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

Presentation

See also: List of conditions associated with café au lait macules

McCune–Albright syndrome is suspected when two of the three following features are present:

• Autonomous endocrine hormone excess, such as in 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.

Approximately 20-30% of fibrous dysplasias are polyostotic, which means fibrous dysplasia and sclerotic bone are present in multiple sites; two thirds of patients are polyostotic before the age of ten. 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.

Increased production of hormones by glands regulated by the G protein system is due to a mutation in the gene causing continuous activation of stimulatory G protein. This results in the so-called "autonomous production" of hormones, including thyroid hormone, cortisol, estrogen and growth hormone. Therefore, hyperthyroidism, Cushing syndrome, precocious puberty in women with premature thelarche (breast growth), premature menarche (beginning of menstrual function), increased speed of growth and growth hormone excess can ensue. Increased serum estrogen concentrations correlate with large ovarian cysts. Ovarian cysts appear and disappear with changing estrogen concentrations, causing menstrual bleeding when estrogen decreases.

McCune–Albright syndrome has different levels of severity. For example, one child with McCune–Albright syndrome 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. Diagnosis may be made only after decades. In other cases, children are diagnosed in early infancy, show obvious bone disease, and obvious increased endocrine secretions from several glands.

Genetics

Genetically, there is a postzygotic mutation (spontaneous mutation) of the gene GNAS1, on the long (q) arm of chromosome 20 at position 13.3, which is involved in G-protein signalling. This mutation, often a mosaicism, prevents downregulation of cAMP signalling.

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).

Notable cases

Mauricio Saravia, a Uruguayan artist 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.

See also

• List of cutaneous conditions
• List of radiographic findings associated with cutaneous conditions

References

External links

• RockYourPaper
• Medterms.com
• GNAS gene
• NORD
• GFMER
• Fibrous Dysplasia Radiology Image Database

UpToDate Contents

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• 1. 思春期早発症の治療 treatment of precocious puberty
• 2. 思春期早発症の定義、原因、および評価 definition etiology and evaluation of precocious puberty
• 3. 小児における先天性および後天性の甲状腺腫 congenital and acquired goiter in children
• 4. 小児および思春期における良性骨腫瘍の概要 overview of benign bone tumors in children and adolescents
• 5. ACTH非依存性副腎皮質大結節性過形成によるCushing症候群 cushings syndrome due to acth independent macronodular adrenal hyperplasia

English Journal

• McCune-Albright Syndrome: An Overview of Clinical Features.

• Brillante B1, Guthrie L1, Van Ryzin C2.
• Journal of pediatric nursing.J Pediatr Nurs.2015 Jul 21. pii: S0882-5963(15)00207-9. doi: 10.1016/j.pedn.2015.06.009. [Epub ahead of print]
• PMID 26209174

• McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue.

• Angelousi A, Fencl F, Faucz FR, Malikova J, Sumnik Z, Lebl J, Stratakis CA.
• Hormones (Athens, Greece).Hormones (Athens).2015 Jul 15. doi: 10.14310/horm.2002.1578. [Epub ahead of print]
• OBJECTIVE: Corticotropin (ACTH)-independent hypercortisolism due to bilateral adrenocortical hyperplasia (BAH) in infancy is an extremely rare condition that is often caused by McCune Albright syndrome (MAS). MAS is caused by an activating mutation of the GNAS gene which leads to increased cyclic (c
• PMID 26188235

• Osteoarthritis of the hip in fibrous dysplasia of the proximal femur.

• Kim HS1, Im SB1, Han I1.
• The bone & joint journal.Bone Joint J.2015 Jul;97-B(7):1007-11. doi: 10.1302/0301-620X.97B7.35828.
• Deformity of the proximal femur in fibrous dysplasia leads to deviation of the mechanical axis of the hip, which may lead to the development of secondary osteoarthritis (OA). This study investigated the prevalence and predisposing factors for the development of OA in patients with fibrous dysplasia
• PMID 26130361

Japanese Journal

• Methimazole と cabergoline が奏効した McCune-Albright 症候群の1例

• 加藤 丈博,諏訪 哲也,澁谷 高志,廣田 卓男,飯塚 勝美,堀川 幸男,武田 純,松尾 公美浩,藤枝 憲二
• 日本内科学会雑誌 99(10), 2542-2544, 2010-10-10
• NAID 10027508827

Related Links

• McCune-Albright Syndrome

McCune-Albright syndrome (MAS) consists of at least 2 of the following 3 features: (1) polyostotic fibrous dysplasia (PFD), (2) café-au-lait skin pigmentation, and (3) autonomous endocrine hyperfunction (eg, gonadotropin-independent precocious puberty). Other endocrine syndromes may be present ...

• Albright syndrome - definition of Albright syndrome in the ...

McCune-Albright syndrome McCune-Albright syndrome An autosomal dominant condition (OMIM:174800) due to altered regulation of cAMP, endocrinopathy (e.g., hyperthyroidism) and hypophosphatemia. Clinical findings Precocious ...

• McCune-Albright-Syndrome - MAS

McCune-Albright-Syndrome (hier klicken für deutsche version) This web-page was created in gratitude and responsibility, to forward experiences and ... In 1980 only 160 MAS-cases occurred in the medical literature. The ...

Related Pictures

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★リンクテーブル★

リンク元	「オルブライト症候群」「Albright's syndrome」
拡張検索	「McCune-Albright syndrome」「Forbes-Albright syndrome」
関連記事	「Albright」「syndrome」

「オルブライト症候群」

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Albright syndrome、Albright's syndrome

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オールブライト症候群、Albright症候群

関

マッキューン・オルブライト症候群、マクキューン・オルブライト症候群、多骨性線維性骨異形成症

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• Gタンパク質Gsα点変異による偽性副甲状腺機能低下

「Albright's syndrome」

　　[★] オールブライト症候群、オルブライト症候群、Albright症候群

関

Albright syndrome、McCune-Albright syndrome、polyostotic fibrous dysplasia

「McCune-Albright syndrome」

　　[★] マッキューン・オルブライト症候群

「Forbes-Albright syndrome」

　　[★] フォーブス・オルブライト症候群

「Albright」

　　[★]

• オールブライト、オルブライト、アルブライト

「syndrome」

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• n.

• 症候群