11 Oct McCune-Albright syndrome (MAS) consists of at least 2 of the following 3 features : (1) polyostotic fibrous dysplasia (PFD), (2) café-au-lait skin. Activating or gain-of-function GNAS1 mutations in patients with the McCune- Albright syndrome are present in the mosaic state, resulting from a postzygotic. McCune-albright syndrome and acromegaly: hormonal control with use of cabergoline and long-acting somatostatin – case report. Síndrome de McCune- albright.
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OMIM Entry – # – MCCUNE-ALBRIGHT SYNDROME; MAS
Whether estrogen receptors are unique to the McCune-Albright syndrome or, alternatively, a property of any activated, dedifferentiated, or neoplastic bone cells is unclear. Polyostotic fibrous dysplasia shares characteristics with several other diseases. Skin The involvement of the skin consists predominantly of large cafe-au-lait spots with irregular margins, giving them a ‘coast of Maine’ configuration as opposed to the more regularly outlined ‘coast of California’ cafe-au-lait spots of neurofibromatosis Gastrointestinal GI endoscopy can be performed to evaluate for suspected polyposis.
The main sites of involvement are the large muscles of the thighs, buttocks, and shoulders. None of the patients obtained complete IGF-1 control with use of cabergoline alone. Biopsy bone, muscle, soft tissue, thyroid ; as clinically pertinent. A probable monogenic form of polyostotic fibrous dysplasia.
Other endocrine tests showed excessive GH secretion and moderate adrenal androgen hypersecretion.
Taconis reported 2 cases of osteosarcomatous transformation, 1 in the skull of a year-old man and 1 in the iliac bone of a year-old man. 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.
Dorfman HD, Czerniak B. Hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report. Idiopathic hypothalamic hypogonadotropic hypogonadism with polyostotic fibrous dysplasia. Excess of growth hormone GH and prolactin are the most frequent pituitary hormonal alterations in the Syndrome. Rev Bras Patol Oral ;3: The tendency for malignant transformation to occur may be greater in patients who have concomitant GH excess or those with Mazabraud syndrome.
Precocious puberty, the most common endocrine feature of MAS, is a result of gonadotropin-independent autonomous ovarian or testicular function.
Sindrmoe authors also demonstrated that patients with McCune Albright syndrome can be treated as routine dental patients, but dentists must identify the systemic disorders associated with the disease and be prepared to forward for testing those patients who had not yet been tested. We need long-term secure funding to provide you the information that you need at your fingertips. Physical examination showed cafe-au-lait skin lesions, enlarged testes, prepubertal sized penis, and no pubic or axillary hair.
This study confirmed the hypothesis of Happle Gs a mutations and imprinting defects in human disease. An accurate differential diagnosis is thus mandatory to establish a timely and appropriate treatment approach.
The histopathology of fibrous dysplasia of bone in patients with activating mutations of the Gs alpha gene: Its etiology is xlbright well known, but some studies indicate congenital disorder with an aberrant activity of the bone former mesenchymatous tissue or an interruption of bone maturation in the developmental phase 9. The alpha subunit contains intrinsic guanosine triphosphatase GTPase activity, which cleaves a phosphate group from GTP, converting it to GDP, and thus inactivates the alpha subunit.
Continuous effect with long-term safety in zoledronic acid therapy for polyostotic fibrous dysplasia with severe bone destruction. Once activated, the mutated Gs alpha subunit is able to continuously stimulate adenylyl cyclase, even in absence of ligand binding to its cognate GPCR receptor.
J Radiol Case Rep. GH-producing pituitary tumors and functional-thyroid adenomas secondary to activating GNAS1 mutations can occur in individuals at xe age.
With precocious puberty, the prognosis depends on the duration of premature estrogen exposure. Pharmacologic agents that have been used to treat precocious puberty in MAS include the following:. However, in atypical cases, the combination of cutaneous sinrrome, bony lesions, and soft-tissue masses may suggest other conditions eg, systemic mastocytosis and neurofibromatosis [NF] see DDx.
McCune-Albright syndrome | Radiology Reference Article |
The stimulatory G protein is normally activated when a hormone or other ligand binds to the cell surface receptor see the image below. Except for hyperpigmentation of the basal layer, no abnormal pathology is seen. B Typical lesions that are often found on the nape of the neck and crease of the buttocks are shown arrows. An accurate differential diagnosis is mandatory to determine the best treatment approach for each case.
This accounts for the lack of autosomal dominant transmission of this syndrome. Treatment of such patients may be very difficult once surgical excision is frequently not possible nccune of anatomic bone alterations; radiotherapy may precipitate sarcomatous transformationand pharmacological treatment with somatostatin analogues may only be partially effective 3,