Disease Information for Polyostotic fibrous dysplasia (MAS syn)

Ads
Clinical Manifestations
Signs & Symptoms
Breast enlargement
Breast Swelling Bilateral
Premature breast development
Brown skin discoloration
Cafe au lait pigmentation
Increased pigmentation/tanning/hyperpigmented
Pigmentation Lesions on Healing
Pigmented patches/skin
Delayed female adolescence
Goiter/thyroid enlargement/mass
Thyroid Mass
Buccal pigmentations
Oral pigmentation lesions
Vaginal bleeding/child
Bowing of extremities
Tall child
Short stature
Short stature Child
Tall Adult
Blue Sclera
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Female
Laboratory Tests
Abnormal Lab Findings - Decreased
ACTH/Corticotrpin/Adrenocortical Hypertrophic hormone (Lab)
FSH/Follicle Stmulating Hormone/ICSH (Lab)
LH/Leutinizing Hormone (Lab)
TSH/Thyroid stimulating hormone (Lab)
Abnormal Lab Findings - Increased
Estrogen, serum (Lab)
Diagnostic Test Results
X-RAY
Xray/Jaw/osteomas
Xray/Advanced bone age/child/adolescent
Xray/Bone, cortical thickening, widespread
Xray/Early closure epiphyses/long bones
Xray/Long bones abnormality/Skeletal
Xray/Looser's/Pseudofractures/Skeletal
Xray/Metadiaphysis lesion/Site usual Present
XRAY/Thickened shafts long bones
Associated Diseases & Rule outs
Associated Disease & Complications
Acromegaly
Bone deformity/acquired
Bony deformities/developmental
Cushing's disease/Syndrome
Endocrine dysfunction
Fibrous dysplasia/bone
Gigantism
Gynecomastia
Hyperpigmentation
Hyperthyroidism (Graves disease)
Multinodular adenomatous goiter/benign
Platybasia
Precocious puberty/male
Precocious puberty/sexuality female
Skeletal dysplasia
Skeletal/bone malformations
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Endocrine gland (category)
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/Gene locus 20q13.2
Pathophysiology/Gene locus Chromosome 20
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Congenital/developmental (category)
PROCESS/Dysplasia/aplasia (ex)
Synonyms
Synonym
Dysplasia fibrous polyostotic, Dysplasia Polyostotic Fibrous, Dysplasias Polyostotic Fibrous, fibrodysplasia polyostotic, fibrosa osteitis disseminata, Fibrous Dysplasia Polyostotic, Fibrous Dysplasias Polyostotic, osteitis fibrosa disseminata, PFD Polyostot fibr dysplasia, PFD Polyostotic fibrous dysplasia, POFD Polyostot fibr dysplas, POFD Polyostotic fibrous dysplasia, polyostotic dysplasia fibrous, polyostotic fibrodysplasia, Polyostotic fibrous dysplasia, Polyostotic Fibrous Dysplasia of Bone, Polyostotic fibrous dysplasia of bone (disorder), Polyostotic Fibrous Dysplasias, Synonym/Albrights fibrodysplasia of bone, Synonym/MAB syndrome, Synonym/MAS, Synonym/McCune-Albright syndrome, Synonym/McCune-Albright-Sternberg syndrome, Synonym/Polyostotic fibrous dysplasia/precocious puberty
Definition

McCune Albright Syndrome; Albright Syndrome; MAS; Osteitis Fibrosa Disseminata; PFD; POFD; Polyostotic, Fibrous Dysplasia; Precocious Puberty with Polyostotic Fibrosis and Abnormal Pigmentation; McCune-Albright Syndrome (MAS) is a rare multisystem disorder characterized by (1) replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); (2) patches of abnormal skin pigmentation (ie, areas of light-brown skin [cafe-au-lait spots] with jagged borders); abnormalities in sexual development, and certain other metabolic functions (multiple endocrine dysfunction); Depending on the number and location of the skeletal abnormalities, mobility may be impaired, as well as vision and/or hearing, and the individual may experience substantial pain; Malfunctioning endocrine glands can result in the development of secondary sexual characteristics at an age younger than normal (precocious puberty); McCune-Albright Syndrome is the result of a genetic change (mutation) that occurs randomly, for no apparent reason (sporadic); In individuals with the disorder, this sporadic genetic mutation is present in only some of the body"s cells (mosaic pattern); The symptoms and physical characteristics associated with the disorder vary greatly from case to case, depending upon the specific body cells and tissues that are affected by the genetic mutation; This mutation occurs after fertilization (postzygotic somatic mutation); It is not inherited from the parents; The range of severity of the disorder is very broad: some children are diagnosed in early infancy with obvious anomalies of bone and increased hormone production by one or more of the endocrine glands; others show no evidence of bone, skin or endocrine malfunction in childhood and may enter puberty at an appropriate age; ------------------[NORD 2005]-------------------

McCune-Albright syndrome ;Albright-McCune-Sternberg syndrome; Weil-Albright syndrome; Brown spot syndrome, leontiasis ossea, osteitis fibrosa cystica, osteitis fibrosis cystica disseminata, osteitis fibrosa disseminata, osteodystrophia fibrosa, polystotic fibrous dysplasia;

A rare congenital developmental disorder beginning in childhood or early adolescence, combining polystotic fibrous dysplasia of the bone, café-au-lait pigmentation of the skin, precocious puberty in girls; The long bones are most frequently affected; Short stature, round face, shortened metacarpals and metatarsals, difficulty in walking; Orthopaedic care may be necessary for disability resulting from pathologic fractures and bony overgrowth; Varying degree of mental retardation; Puberty is usually reached at 5 to 10 years of age; Predominantly in females (3:2); This condition is similar to the Jaffe-Lichtenstein syndrome, but distinguished from that by the patchy skin pigmentation and sexual precocity----------[whonamedit_com 2005]-------

(Edit)

External Links Related to Polyostotic fibrous dysplasia (MAS syn)
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
Ads