[*****] [P]
McCune-Albright Syndrome
By Bruce A Boston, MD, Director, Pediatric Endocrine Training Program, Assistant Professor,
Department of Pediatrics, Division of Pediatric Endocrinology, Oregon Health Sciences University
and Doernbecher Children's Hospital.
From eMedicine Journal, January 7, 2001, Volume 2, Number 1.
Classic form consists of at least 2 features of the triad of polyostotic fibrous dysplasia
… skin pigmentation, and autonomous endocrine hyperfunction … McCune and Albright separately reported the most complete early descriptions of the syndrome in 1937
… The most common form of autonomous endocrine hyperfunction in this syndrome is gonadotropin independent precocious
puberty … also have hyperthyroidism, hypercortisolism, pituitary gigantism, or acromegaly
… hypophosphatemia, chronic liver disease, tachycardia, and, rarely, sudden death, possibly from cardiac arrhythmias.
Fibrous dysplasia in the McCune-Albright syndrome can involve any bone but most commonly affects the long bones, ribs, and skull
… Hypophosphatemia is a result of decreased reabsorption of phosphate in the renal tubule, similar to the phosphaturia seen with hyperparathyroidism
…
Hepatic abnormalities range from mild elevation of hepatic transaminases to severe neonatal jaundice and chronic cholestasis
… Many case reports … describe sudden death … The exact incidence is unknown ... Hyperthyroidism can cause severe failure to thrive in infants and young children … Sex: Gonadotropin independent precocious puberty is far more common in affected girls than in boys …
Symptoms of an intracranial process, such as abrupt vision changes, nighttime headaches, and/or nighttime emesis, are suggestive of hypothalamic lesions that can lead to gonadotropin dependent precocious puberty
… Differentials ... Acromegaly, Glucocorticoid Therapy and Cushing Syndrome,
Hyperthyroidism,
Hypophosphatemic Rickets, Neurofibromatosis … The focus of therapy in McCune-Albright syndrome is to decrease secretion of the hormones
… no therapy addresses the underlying molecular problem, ie, the inappropriate activation of the Gsa subunit
... Testolactone (Teslac)- Blocks the conversion of testosterone to estradiol … Methimazole (Tapazole)- Used to decrease the production of thyroid hormone in functional thyroid nodules associated with McCune-Albright syndrome …
Octreotide (Sandostatin)- Potent, long-acting analogue of somatostatin. This drug acts at the somatotroph to inhibit release of GH from the pituitary gland ...
[S]
McCune-Albright Syndrome
By National Institute of Child Health & Human Development
named for the two physicians who described it over 50 years ago. They reported a group of children, most of them girls, with an unusual pattern of associated abnormalities: bone disease, with fractures, asymmetry and deformity of the legs, arms, and skull; endocrine disease, including early puberty with menstrual bleeding, development of breasts and pubic hair and an increased rate of growth; and skin changes, with areas of increased pigment distributed in an asymmetric and irregular pattern … marked variability among patients, the components of this complicated syndrome are described separately
below ...
McCune-Albright Syndrome
[Teaching Review]
(Course with testing module)
Objectives: By the end of the course, the student will be able to:
A. Demonstrate knowledge of the history and definition of McCune-Albright Syndrome,
B. Describe the endocrine and skin abnormalities as well as the bone disease related to McCune-Albright Syndrome,
C. Be aware of the research being done on McCune-Albright Syndrome ...
The McCune-Albright syndrome is named for the two physicians who described it over 50 years ago. They reported … unusual pattern of associated abnormalities: bone disease, with fractures, asymmetry and deformity of the legs, arms, and skull; endocrine disease, including early puberty with menstrual bleeding, development of breasts and pubic hair and an increased rate of growth; and skin changes, with areas of increased pigment distributed in an asymmetric and irregular pattern.
…term “McCune-Albright syndrome” is used to describe patients who have some or all of these bone, endocrine, and skin abnormalities
… a broad spectrum of severity …
Precocious Puberty: When the signs of puberty (development of breasts, testes, pubic and underarm hair, body odor, menstrual bleeding, and increased growth rate) appear before the age of 8 years in a girl or 9½ years in a boy, it is termed “precocious puberty.”…
menstrual bleeding under 2 years of age has been the first symptom of McCune-Albright syndrome in 85 percent of patients
… Thyroid Function: Almost 50 percent of patients with McCune-Albright syndrome have thyroid gland abnormalities;…
Growth Hormone: Excessive secretion of pituitary growth hormone has been seen in a few patients…
Other Endocrine Abnormalities: Although rare, adrenal enlargement and excessive secretion of the adrenal hormone cortisol is seen in McCune-Albright syndrome
… symptoms are called “Cushing’s syndrome.”…
Bone Disease-Polyostotic Fibrous Dysplasia:
The term “polyostotic fibrous dysplasia” means “abnormal fibrous tissue growth in many bones.”…
normal bone is replaced by irregular masses of fibroblast cells … in weight bearing bones
… limping, deformity, and fractures may occur…arms and/or legs are of unequal length, even in the absence of actual fracture
… also very common in the bones that form the skull and upper jaw … facial asymmetry may result.
Skin Abnormalities
The irregular, flat areas of increased skin pigment…”café-au-lait” spots…Most children have the pigment from birth, and it almost never becomes more
extensive ...
[**] McCune-Albright syndrome
MEDLINE plus ... Medical Encyclopedia
Polyostotic fibrous dysplasia; Osteitis fibrosa cystica ...
A genetic disease affecting the bones and pigmentation of the skin, and causing hormonal problems featuring premature sexual development ...
The hallmark of McCune-Albright syndrome is premature puberty in the female which may begin at variable ages. …
menses may begin in early childhood long before the appearance of breast or pubic hair development. Early sexual development in the male is present, but it is not as common as in females ...
[P] [*] Analysis of 113 Patients with Signs of McCune-Albright Syndrome
S. Lumbroso et al.
The Journal of Clinical Endocrinology & Metabolism Vol. 89, No. 5 2107-2113
... sporadic disorder characterized by the classic triad of polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and peripheral precocious puberty
... postzygotic activating mutations of arginine 201 in the guanine-nucleotide-binding protein (G protein) -subunit (Gs), leading to a mosaic distribution of cells bearing constitutively active adenylate cyclase
... mutation was found in more than 90% of the patients
... Skin was a noteworthy exception because only three of the 11 skin samples were positive ...
[P] [*] McCune-Albright syndrome associated with pituitary microadenoma: patient report
... characterized by the classic triad of precocious puberty, polyostotic fibrous dysplasia and cafe-au-lait spots
... Additional endocrine abnormalities may also be present, including hyperthyroidism, growth hormone excess and hyperprolactinemia
... precocious puberty is typically the initial manifestation of MAS in girls
... Ovarian cysts may be detected on pelvic ultrasound ...
[Italian] EAMAS Associazione Europea amici della Sindrome di McCune-Albright
La syndrome di McCune-Albright ... Introduzione,
Ezilogia,
Epidemilogia,
Anomalie Endrocine,
Diagnosi,
Diagnosi Differenziale,
Caratteristiche Secondaire,
Cura,
La syndrome di McCune-Albright,
Studio longitudinale su 32 pazienti,
Trattamento della displasia fibrosa con Pamidronato in 9 bambini ...
[P] [Spanish] Síndrome de McCune-Albright:
By Ordaz-Favila JC, et al ... Rev Mex Oftalmol 2000; 74(1).
se caracteriza por una triada de signos físicos, integrada por pubertad precoz, áreas pigmentadas en piel, café con leche, y lesions óseas, conocidas en su conjunto como displasia fibrosa poliostótica, que se presenta en la primera década de la vida …
presenta un caso … con proptosis progresiva y dolorosa en ambos ojos …
McCune-Albright Syndrome with Fibrous Dysplasia
By Archie R. McGowan, M.D. and Daniel S. Williamson, M.D., Ph.D. (Harvard University, Brigham Hospital)
left hand demonstrates multiple large expansile “bubbly” lytic lesions with sharp transition zones and without an associated periosteal reaction … The lesions are located in the phalanges, carpels, metacarpals, distal ulna and radial bones …
Differential Diagnosis,
Fibrous dysplasia,
Enchondroma,
Eosinophylic granuloma,
Metatstatic disease,
Hyperparathyroidism,
Thalassemia,
Chondroblastoma ...
McCune-Albright Syndrome
By Dr. Ali Tassi, et al, from the Ohio State University, Postdoctoral General Dentistry
Lecture Slides
[Parents]
McCune-Albright syndrome
From MedWeb
A disease of unknown cause affecting the bones and pigmentation of the skin, and causing premature sexual
development
… abnormal fibrous dysplasia (abnormal fibrous development) in the bone that can lead to fractures or deformities. Deformity may appear in the facial bones causing cosmetic problems. In addition, the children have café-au-lait spots, which may be present from birth. Bone changes in the skull can lead to blindness or
deafness ...
[German]
Das Albright-(McCune-Albright-) Syndrom
By Dr. Sabine Bieg, Pädiatrische Endokrinologie 2000 Newsletter Nr. 3
Das Albright- (engl. McCune-Albright-) Syndrom ist eine der facettenreichsten Erkrankungen in der pädiatrischen Endokrinologie … dem Auftreten groβflächiger Café-au-lait-Flecken der Haut, fibrösen polyostotischen Dysplasien und autonomen Dysfunktionen endokriner Organe …
[*] [S]
[French] Le syndrome de McCune-Albright (SMA)
ASSYMCAL,
Association des maladies du syndrome de McCune / Albright
Et de dysplasie fibreuse des os
Le Sylvéréal
38, allée des Pins
13009 MARSEILLE.
Tél – fax: 04 91 41 78 86.
e-mail: assymcal@wanadoo.fr ...
Il est caractérisé par: une puberté précoce,
des taches cutanées café-au-lait,
une dysplasie fibreuse osseue,
Ces trios symptoms bien que formant un triptyque ne sont pas toujours presents, ils peuvent éventuellement apparaître á divers moments de l’évolution de la maladie.
Les manifestations:
La puberté: elle peut intervenir trés tôt, á quelques mois ou quelques années. Elle est généralement due á une stimulation non de l’hypophyse mais des ovaries. Du fait de cette puberté précoce, la croissance est accélérée, et l’âge osseux est en avance par rapport à l’âge reel,
D’autres glandes endocrines, comme les surrénales, peuvent être affectées,
Des taches cutanées café-au-lait á bord frangé et irrégulier. Ces taches peuvent se situer généralement en haut des fesses our á la nuque et en general du côté oú les lesions osseuses seraient les plus importantes ...
[S] [French] McCune – Albright, et la Dysplasie Fibreuse des Os
From SIRARE.NET
Le syndrome de McCune-Albright et la dysplasie fibreuse des Os sont deux maladies génétiques don’t les causes déterminantes restent encore inconnues mais il a été observe une mutation de la protéine Gs alpha ...
[French]
Albright, syndrome: sites francophones
From Doc’CISMeF
McCune-Albright syndrome synonyme(s) et inclusion(s) : dysplasie fibreuse polyostotique, puberté précoce indépendante des gonadotrophines chez la fille ...
[S] The Paget Foundation For Paget Disease of Bone and Related Disorders
Any bone can be affected…some patients, only one bone is affected (monostotic fibrous dysplasia), whereas in other patients numerous bones are affected (polyostotic fibrous dysplasia). The most common sites are the femur (thigh bone), tibia (shin bone), ribs, skull, facial bones, humerus (upper arm), and
pelvis … Fibrous dysplasia is a very rare disorder … caused by an abnormal chemical “switch” (called the Gs-alpha protein) in the affected
cells …
Is fibrous dysplasia inherited? No …
[S] [Parents]
McCune-Albright Syndrome Division
The MAGIC Foundation for Children’s Growth
Chicago, Illinois
Established in 1989.
Penelope Philbrick Feuillan, M.D.
Pediatric Endocrinologist
Bethesda, Maryland.
[Ukrainian] McCune-Albright Syndrome
A fact sheet for specialists in Ukrainian
Synonyms ... Main diagnostic criteria ... Etiology and pathogenesis ... Diagnosis ... Laboratory tests ... Differential diagnosis ... Treatment and care ...Prognosis ... OMIM number ...
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