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McCune-Albright Syndrome

Albright's Syndrome


Presentation

  • Three atypical cases of suspected McCune-Albright syndrome with gonadotropin-independent precocious puberty are presented. Case #1: A 5-year-old female presented with painlesss vaginal bleeding and was found to have café au lait lesions.[ncbi.nlm.nih.gov]
Splenomegaly
  • Due to worsening painful splenomegaly, likely as a result of sequestration, splenectomy was performed. Following splenectomy, pancytopenia resolved and patient has since been transfusion-independent.[ncbi.nlm.nih.gov]
Weight Gain
  • Symptoms include obesity of the face and body, weight gain, skin fragility, and stopping growth in childhood. Cushing’s syndrome is treated by removing the affected glands or with medicine.[houghton.moneomed.com]
  • In infants, it may present with a low birth weight and poor weight gain. In older children, Cushing syndrome usually leads to poor growth and abnormal weight gain, especially in the face and trunk.[magicfoundation.org]
  • gain, obesity of the face and trunk, skin fragility and cessation of growth in children Treatment: removal of adrenal glands or use of drugs that block cortisol synthesis Bone Disease (polyostotic fibrous dysplasia): Abnormal fibrous tissue growth in[en.wikibooks.org]
  • Some of the symptoms may include: obesity weight gain around the abdomen wasting of the limbs a hump of fat high on the back round, red and puffy face thin, easily bruised skin slow healing of skin wounds skin ulcers arrested growth in childhood.[betterhealth.vic.gov.au]
  • This further causes weight gain around face as well as mid-section and weight loss in arms and legs. Gigantism as a Result of McCune-Albright Syndrome: It occurs due to excess of growth hormone within the body.[epainassist.com]
Pathologist
  • Jaffe-Lichtenstein syndrome is entered under Henry Lewis Jaffé, American pathologist, 1896-1979. Bibliography A. Weill: Pubertas praecox und Knochenbrüchigkeit. Klinische Wochenschrift, Berlin, 1922, 1: 2114-2115.[whonamedit.com]
Pleural Effusion
  • A case of fibrous dysplasia protuberans is hereby presented, manifesting as an exudative pleural effusion in a 49 years old male with history of McCune-Albright syndrome.[ncbi.nlm.nih.gov]
Hyposmia
  • There were significant positive correlations between the sinonasal FD scale score and chronic congestion, hyposmia, growth hormone excess, and hyperthyroidism (P .05 for all).[ncbi.nlm.nih.gov]
Anterior Open Bite
  • A male, 8-year-old patient was examined at the Department of Orthodontics of the University of L'Aquila for a problem of anterior open-bite.[ncbi.nlm.nih.gov]
Cafe-Au-Lait Spots
  • McCune-Albright syndrome (MAS) is characterized by the triad of fibrous dysplasia (FD), cafe-au-lait spots and precocious puberty (PP). We report a 14-year-old girl with MAS who has been followed-up for 8 years.[ncbi.nlm.nih.gov]
  • People with neurofibromatosis often have more than 6 light brown spots -- cafe-au-lait spots -- larger than 1.5 centimeters. This is a picture of a giant cafe-au-lait spot on a person with neurofibromatosis.[mountsinai.org]
  • McCune-Albright syndrome ( MAS ) is a genetic disorder characterized by the association of: endocrinopathy: precocious puberty polyostotic fibrous dysplasia: more severe than in sporadic cases cutaneous pigmentation: coast of Maine ' cafe au lait ' spots[radiopaedia.org]
Hirsutism
  • The pattern of terminal hair on the skin following the administration of the drug and the exclusion of other causes suggested tamoxifen-induced hirsutism.[ncbi.nlm.nih.gov]
  • A–C, Patient 6 as neonate with no clinical signs of cortisol excess (A); at age 3 months, with frequent infections and hirsutism of forehead (B); and at age 6 months, with resolved hirsutism (C).[academic.oup.com]
  • Physical Examination Her physical exam revealed a conscious, fully oriented female child, with feminine facies and body contour, antalgic gait, thyroid gland not enlarged, normal hair distribution, Marshall & Tanner stage: A0 P1 B3, There was no hirsutism[asean-endocrinejournal.org]
  • Brown et al. reviewed all the published cases of Cushing’s syndrome in MAS ( n 30) and listed the following signs and symptoms: small for gestational age (50%), round facies (66.7%), failure to thrive (60%), hypertension (33.3%), nephrocalcinosis (30%), hirsutism[jmedicalcasereports.com]
Hyperhidrosis
  • On examination, his height was 196 cm, he had macroglossia, acral enlargement, seborrhoea, hyperhidrosis-suggesting acrogigantism. He had facial asymmetry, wind-swept deformity of lower limbs and a café-au-lait macule over his trunk.[ncbi.nlm.nih.gov]
Advanced Bone Age
  • Skeletal survey showed dysplastic changes involving multiple bones and advanced bone age. Reports of MAS in a boy with unilateral macroorchidism are scarce.[ncbi.nlm.nih.gov]
  • Precocious puberty may result in an advanced bone age, which could potentially limit growth potential and final adult height. Precocious puberty is more common in females than males with more than 50% of females experiencing precocious puberty.[rarediseases.org]
  • It is important to diagnose hyperthyroidism in MAS, as hyperthyroidism can advance bone age, which may already be a problem in children with precocious puberty, lead to or exacerbate osteoporosis, and cause a plethora of other metabolic derangements.[ojrd.biomedcentral.com]
Ataxia
  • A 9-year-old girl was admitted to pediatric emergency with ataxia. Upon hospitalization, an extradural mass was seen on cranial magnetic resonance imaging (MRI) and the bone survey showed lytic lesions in the long bones.[ncbi.nlm.nih.gov]
Oligomenorrhea
  • She had a history of precocious puberty, diagnosed at the age of 6 years and treated with cyproterone acetate until the age of 10 years; then she developed central puberty with severe oligomenorrhea.[ncbi.nlm.nih.gov]
Vaginal Discharge
  • The young girl experienced bilateral breast enlargement, vaginal discharge, and multiple areas of "cafe-au-lait" pigmentation on the skin. The skeletal radiographs showed multiple bone lesions which were suggestive of polyostotic fibrous dysplasia.[ncbi.nlm.nih.gov]

Workup

  • Other laboratory workup showed elevated alkaline phosphatase (388 U/l) with normal calcium, phosphorus, parathyroid hormone, and 25-hydroxy vitamin D levels.[jgid.org]
  • Diagnostic imaging modalities that may be considered include plain radiography, ultrasonography, computed tomography (CT), magnetic resonance imaging (MRI), and radionuclide bone scanning (as clinically indicated) (see Workup).[emedicine.medscape.com]
  • Clinical Testing and Workup A complete body survey should be performed for the characteristic cafe-au-lait spots, and x-ray studies should be combined with bone scans to evaluate the presence and extent of fibrous dysplasia.[rarediseases.org]
Left Pleural Effusion
  • An ultrasonic examination showed that he had left-pleural effusion, which disappeared after almost a year without special treatment. Genomic DNA was isolated from the peripheral blood, bone tissue, skin lesion and pleura samples of the patient.[ncbi.nlm.nih.gov]
Pleural Effusion
  • A case of fibrous dysplasia protuberans is hereby presented, manifesting as an exudative pleural effusion in a 49 years old male with history of McCune-Albright syndrome.[ncbi.nlm.nih.gov]

Treatment

  • Treatment of precocious puberty (PP) in MAS should be considered in patients with poor predicted adult height (PAH).[ncbi.nlm.nih.gov]

Prognosis

  • Diagnosis - McCune Albright syndrome Prognosis - McCune Albright syndrome The long-term outlook (prognosis) for people with McCune Albright syndrome (MAS) varies depending on the nature and severity of features in each affected person.[checkorphan.org]
  • RESULTS: Fifty-seven specific recommendations are provided as key points for the diagnosis, prognosis, and follow-up of patients with FD/MAS.[ncbi.nlm.nih.gov]
  • Diagnosis and Prognosis: This complex disorder requires a multidisciplinary team for diagnosis and treatment. Therapy for different problems is specific and no single treatment is available for all aspects of McCune-Albright syndrome.[disorders.eyes.arizona.edu]
  • Prognosis MAS is rarely associated with malignancy. Malignant transformation of FD lesions occurs in probably less than 1% MAS patients. The documents contained in this web site are presented for information purposes only.[orpha.net]

Etiology

  • The etiology likely involved loss of hematopoetic marrow space and uncontrolled endocrinopathies. Splenectomy was therapeutic.[ncbi.nlm.nih.gov]
  • Etiology The disease results from somatic mutations of the GNAS gene, specifically mutations in the cAMP-regulating protein, Gs alpha.[orpha.net]

Epidemiology

  • Summary Epidemiology It is a rare disease with an estimated prevalence of between 1/100,000 and 1/1,000,000.[orpha.net]
  • Epidemiology of McCune-Albright Syndrome The incidences of McCune-Albright syndrome are from one in hundred thousand to one in a million. Amongst the ailing patients, around seventy percent cases suffer from fibrous dysplasia of bone tissues.[epainassist.com]
  • Leprosy now: Epidemiology, progress, challenges, and research gaps. Lancet Infect Dis 2011;11:464-70. [ PUBMED ] 4. Pinheiro RO, de Souza Salles J, Sarno EN, Sampaio EP.[jgid.org]
  • All cells descended from the mutated cell can manifest features of McCune-Albright syndrome. [ 3 ] Epidemiology McCune-Albright syndrome is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. [ 1 ] Gonadotrophin-independent precocious[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • Authors: Robert P Stanton, Ernesto Ippolito, Dempsey Springfield, Lynn Lindaman, Shlomo Wientroub and Arabella Leet View Full Text View PDF Content type: Proceedings View Full Text View PDF Content type: Proceedings Pathophysiology and medical treatment[ojrd.com]
  • Abstract During the past decade, it has become clear that precocious puberty is a complex disorder with multiple pathophysiologic causes.[pediatrics.aappublications.org]
  • Pathophysiology of McCune-Albright Syndrome The pathophysiology associated with McCune-Albright syndrome is due to the post zygotic mutation of activated GNAS1 gene.[epainassist.com]
  • Real Test Case: Valid Data from Fibrous Dysplasia Foundation’s Effort Fibrous Dysplasia/ McCune Albright Syndrome N Million Affected People Now Have Better Care From Focused Research To Enhanced Cure/Care Improve understanding of disease or pathophysiology[slideshare.net]
  • The role of type 1 and type 2 5'-deiodinase in the pathophysiology of the 3,5,3'-triiodothyronine toxicosis of McCune-Albright syndrome. J Clin Endocrinol Metab. 2008 Jun. 93(6):2383-9. [Medline]. [Full Text]. Lietman SA, Ding C, Levine MA.[emedicine.medscape.com]

Prevention

  • OBJECTIVE: The aim of the study was to determine whether early diagnosis and treatment of MAS-associated GH excess prevents optic neuropathy and hearing impairment, the major morbidities associated with GH excess.[ncbi.nlm.nih.gov]
  • Albright like syndrome, Osteitis fibrosa disseminata, Polyostotic, fibrous dysplasia, Precocious puberty with polyostotic fibrosis and abnormal pigmentation, MAS, PFD, POFD Symptoms - McCune Albright syndrome Causes - McCune Albright syndrome Prevention[checkorphan.org]

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