McCune-Albright syndrome

マッキューン・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）』「2012/11/08 03:15:51」(JST)

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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, 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 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.

McCune-Albright syndrome 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.

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.

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 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.

See also

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

References

External links

• Medterms.com
• GNAS gene
• NORD
• GFMER
• Fibrous Dysplasia Radiology Image Database
• [1] The MAGIC Foundation-Patient Support

UpToDate Contents

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• 1. 思春期早発症の定義、原因、および評価 definition etiology and evaluation of precocious puberty
• 2. 色素沈着過剰を有する患者へのアプローチ approach to the patient with hyperpigmentation disorders
• 3. 思春期早発症の治療 treatment of precocious puberty
• 4. 小児および思春期における良性骨腫瘍：概要 benign bone tumors in children and adolescents an overview
• 5. 骨形成不全症：臨床的特徴および診断 osteogenesis imperfecta clinical features and diagnosis

English Journal

• Primary Bimorphic Adrenocortical Disease: Cause of Hypercortisolism in McCune-Albright Syndrome.

• Carney JA, Young WF, Stratakis CA.Source*Department of Laboratory Medicine and Pathology †Division of Endocrinology, Diabetes, Nutrition and Metabolism, Mayo Clinic, Rochester, MN ‡Section on Endocrinology and Genetics, NICHD, NIH, Bethesda, MD.
• The American journal of surgical pathology.Am J Surg Pathol.2011 Sep;35(9):1311-26.
• McCune-Albright syndrome (polyostotic fibrous dysplasia, cafe-au-lait skin spots, and precocious puberty) is a genetically mosaic disorder with populations of mutant and normal cells in affected organs. Cushing syndrome, a rare feature of the condition, usually affects infants and is the result of
• PMID 21836496

• Bilateral tibial adamantinomas simulating stress fractures on scintigraphy.

• Imran MB, Othman SA.SourceFrom the Division of Nuclear Medicine, Department of Radiology and Medical Imaging, King Khalid University Hospital, King Saud University, Riyadh, Kingdom of Saudi Arabia.
• Clinical nuclear medicine.Clin Nucl Med.2011 Sep;36(9):788-90.
• A 35-year-old woman presented with continued tenderness in the left leg for more than 2 months. The patient was sent to the nuclear medicine department for evaluation. Three phase blood flow imaging followed by a whole body bone scan were performed. Scintigraphy revealed metabolically active lesions
• PMID 21825851

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

• 大腿骨頭下に病的骨折を生じた McCune-Albright 症候群の1手術例

• 伊藤 雄也,吉原 愛雄,城本 雄一郎,桑久保 正利,三原 政彦,河野 友紀,根本 孝一
• 関東整形災害外科学会雑誌 41(5), 317-322, 2010-10-01
• NAID 10026703083

Related Links

• McCune-Albright syndrome: MedlinePlus Medical Encyclopedia

Causes. McCune-Albright syndrome is caused by mutations in the GNAS1 gene. A small number, but not all, of the patient's cells contain this faulty gene ( mosaicism). This disease is not inherited.

• 思春期 思春期早発症

McCune-Albright症候群は、①思春期早発症②cafe-au-lait色素斑③骨の繊維性骨異 形成（fibrous dysplasia）の３徴候をもった症候群をいう。必ずしも３徴候を示している 必要はなく、また３徴候以外にも、甲状腺機能亢進症、Cushing症候群、下垂体性巨人 ...

Related Pictures

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★リンクテーブル★

リンク元	「マッキューン・オルブライト症候群」「Albright's syndrome」
関連記事	「Albright」「syndrome」「Albright syndrome」

「マッキューン・オルブライト症候群」

　　[★]

英

McCune-Albright syndrome

同

オルブライト症候群 Albright's syndrome、(国試)McCune-Albright症候群、マクキューン・オルブライト症候群

関

多骨性線維性骨異形成症、

概念

• 線維性骨炎　＋　皮膚の色素沈着　＋　性早熟

疫学

• 若年者、女性に多い

原因

• 不明

症状

• 骨の疼痛・変形・腫脹、病的骨折、早発月経

「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

「Albright」

　　[★]

• オールブライト、オルブライト、アルブライト

「syndrome」

　　[★]

• n.

• 症候群

　 　 　

「Albright syndrome」

　　[★] オルブライト症候群