McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the enti...

McCune-Albright syndrome is a rare genetic disorder with typical skeletal and endocrine manifestations. The disease course is complicated by recurrent fractures resulting from polyostotic fibrous dysplasia and the treatment is thus primarily directed at the reduction of the risk of fractures. However, due to the complex mechanism of the skeletal damage the standard antiporotic therapeutics are ...

OBJECTIVES/HYPOTHESIS Fibrous dysplasia is a condition of nonmalignant osseous change and may occur in a monostotic or polyostotic pattern, the latter potentially being associated with McCune-Albright syndrome. Symptoms are highly variable and dependent upon lesion location and size. STUDY DESIGN Retrospective review. METHODS Consecutive subjects with fibrous dysplasia of the temporal bone ...

BACKGROUND McCune-Albright syndrome is a sporadic disorder characterized by polystotic fibrous dysplasia, pigmented patches of skin, and endocrinological abnormalities. OBJECTIVES To compare the genetic characteristics of the GNAS1 gene in a monozygotic pair of twins, one of whom was diagnosed with MAS while the other had no indication of the syndrome. METHODS We performed a molecular analy...

McCune-Albright syndrome (MAS) is a rare disorder that develops from an activating mutation in the Gs gene. It is characterized by an association with Polyostotic fibrous dysplasia, and precocious puberty, Caf-au-lait pigmentation, and other endocrinopathies that result from the hyperactivity of a variety of endocrine glands. Recently we encountered a patient with MAS with fibrous dysplasia, sk...

We observed a 15-year-old Caucasian boy with a rare form of reflex epilepsy, known as hot water epilepsy (HWE), associated to McCune-Albright syndrome (MAS). This is a rare disease due to post-zygotic and somatic mutations of the Gs-alpha gene, that results in cellular mosaicism. Predominant features of MAS occur in the bony skeleton, the skin, the endocrine system, and, in atypical presentatio...

Received July 26, 2013, Revised September 11, 2013, Accepted for publication September 26, 2013 Corresponding author: Tae Yoon Kim, Department of Dermatology, The Catholic University of Korea, Seoul St. Mary’s Hospital, 222 Banpodaero, Seocho-gu, Seoul 137-701, Korea. Tel: 82-2-593-2626, Fax: 82-2-3482-8261, E-mail: [email protected] This is an Open Access article distributed under the te...

McCune-Albright syndrome (MAS) is characterized by a triad of poly/monostotic fibrous dysplasia, café-au-lait macules and hyperfunctioning endocrinopathies including human growth hormone excess. Acromegaly as a manifestation of endocrine hyperfunction with MAS is uncommon. Surgical excision may be challenging due to the associated severe fibrous dysplasia of the skull base. Through the endoscop...