A síndrome de McCune-Albright (SMA) é geralmente reconhecida pela presença de três características principais: displasia fibrosa dos ossos (DFO), manchas café com leite na pele e puberdade precoce (PP).
Introdução
O que você precisa saber de cara
A síndrome de McCune-Albright (SMA) é geralmente reconhecida pela presença de três características principais: displasia fibrosa dos ossos (DFO), manchas café com leite na pele e puberdade precoce (PP).
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 22 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 66 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Not applicable.
May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame
Cell membraneCell projection, ruffle
Medicamentos e terapias
Mecanismo: Growth hormone receptor antagonist
Mecanismo: Estrogen receptor degrader
Mecanismo: Cytochrome P450 19A1 inhibitor
Variantes genéticas (ClinVar)
467 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 97 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
6 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome McCune-Albright
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
24 ensaios clínicos encontrados, 5 ativos.
Publicações mais relevantes
Addressing the unmet challenge of pain in rare bone diseases: new insights from the RUDY UK registry.
Pain is a common symptom in many rare bone disorders, often linked to depression and a substantial decline in quality of life. However, there is little information on the quality of the pain which may provide insights into pain mechanisms. This study aimed to describe and compare the frequency and characteristics of self-reported pain in adults with Fibrous Dysplasia of Bone/McCune-Albright Syndrome (FD/MAS), Osteogenesis Imperfecta (OI), and X-linked Hypophosphatemia (XLH). A cross-sectional study was conducted using the online UK RUDY registry. Adults with self -reported FD/MAS, OI, and XLH who completed the painDETECT questionnaire (PD-Q) were included. Pain prevalence and phenotypes were assessed using baseline PD-Q responses which were also mapped to a modified widespread pain index as a measure of generalized pain. Descriptive analyses were performed using R®. A total of 281 adults completed the baseline PD-Q (94 FD/MAS, 94 OI, and 93 XLH). Among these, 86% of patients currently experienced pain and 47% reported severe strongest pain in the past four weeks, with no significant differences between conditions. Pain prevalence and phenotype were similar across diseases, though pain sites differed. Neuropathic-like pain and female sex were significantly associated with poorer pain outcomes, including higher pain prevalence and intensity (p < 0.05). Generalized pain (18%) was significantly associated with moderate to severe anxiety (p = 0.03), depression (p < 0.001) and sleep impairment (p < 0.001). Despite distinct pathophysiological mechanisms, pain distribution appears similar across these bone diseases, suggesting a major role for non-skeletal factors. Generalized pain was frequent and associated with anxiety, depression, and sleep disturbances, suggesting nociplastic features maybe a significant driver of pain in adults with rare bone diseases. The online version contains supplementary material available at 10.1186/s13023-025-04167-4.
A Case of Pediatric Adrenocortical Carcinoma With McCune-Albright Syndrome Masquerading as Spontaneously Regressing Neuroblastoma.
Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: a retrospective study of a French cohort.
McCune-Albright syndrome MAS is a rare mosaic disorder caused by post-zygotic GNAS activating mutations. MAS is characterized by fibrous dysplasia (FD) of the skeleton, café-au-lait skin macules, and hyperfunctioning endocrinopathies such as precocious puberty, thyroid disease, growth hormone excess, and FGF23-mediated phosphate wasting. Mosaicism leads to marked clinical heterogeneity and complicates molecular diagnosis. We retrospectively analyzed clinical and genotyping data of patients referred for suspected or clinically diagnosed MAS in a single French center (2014-2025). GNAS R201C and R201H mutations were detected by digital droplet PCR using peripheral blood as first-line samples, with additional testing of circulating cell-free, saliva, or tissue when indicated. We included 405 patients, from which 89 (22%) carried a GNAS mutation (52 R201C, 37 R201H). No significant clinical differences were observed between R201C and R201H. Among 578 analyzed samples, mutation detection varied by sample type, with the highest rates in tissue. Mutant allele frequency (MAF) in blood DNA was higher in patients with polyostotic than in FD (p = 0.0055), but was not associated with the overall MAS-related lesion number. No correlation was found between MAF and age at diagnosis. MAS shows substantial clinical and molecular heterogeneity without clear genotype-phenotype differences between R201 variants. Mutation detection strongly depends on sample type, reflecting disease mosaicism. A multimodal diagnostic strategy and larger collaborative cohorts are needed to optimize molecular diagnosis and refine genotype-phenotype correlations in MAS patients.
Efficacy of Denosumab for Treatment of Pain in Fibrous Dysplasia and McCune-Albright Syndrome: A Systematic Review.
Fibrous dysplasia (FD) skeletal lesions have a range of clinical manifestations including pain, which is a major contributor to reduced quality of life in patients with FD/MAS. Denosumab has been shown to reduce skeletal lesion activity and improve radiographic bone density; however, there is mixed evidence regarding its effect on pain. The primary objective was to evaluate the efficacy of denosumab for the treatment of bone pain in FD/MAS. A systematic review was conducted according to PRISMA guidelines utilising electronic databases including PubMed, Cochrane Library, Embase, Web of Science, and ClinicalTrials.gov. Included studies were those that described patients with a diagnosis of FD, with or without MAS, who were treated with denosumab. The primary outcomes were change in pain score using quantitative pain scales (Visual Analogue Scale, Brief Pain Index, and patient-reported numerical rating scale), proportion of pain responders (≥ 2-point reduction in pain or an overall subjective improvement in pain), and change in analgesic requirement. The secondary outcome was adverse on-treatment and post-treatment events related to denosumab. There were 16 studies included (88 total patients, 86 treated with denosumab). Mean pain score decreased by 3.51 points on a 10-point scale. 81.8% of patients were pain responders, demonstrating a clinically meaningful improvement in pain. Reduction or cessation of analgesic use was reported in 51.7% of patients. Adverse events occurred in 55.8% of patients, most commonly hypocalcemia (11.6%) and hypophosphatemia (8.1%). Rebound hypercalcemia following denosumab discontinuation occurred in 8 patients (9.3%), 4 of which were severe. In patients with FD/MAS undergoing treatment with denosumab, pain improved in 81.8% of patients, and analgesic requirement decreased in greater than half of patients. Careful monitoring is required surrounding treatment due the potential for severe adverse events, particularly rebound hypercalcemia following treatment discontinuation.
Precocious puberty: An overview of pathogenesis, clinical presentation, and management.
Precocious puberty, defined as the onset of secondary sexual characteristics at 2.5 SD below the mean age of onset of puberty (8 years in girls and 9 years in boys) is a complex clinical condition that has considerable physiological and psychological consequences on children and their parents. There are two types - central (gonadotrophin-dependent) and peripheral (gonadotrophin independent). Among the causes of central precocious puberty are various genetic mutations, syndromes and central nervous system disorders that prematurely activate the hypothalamic pituitary gonadal axis leading to the secretion of sex steroids that induced pubertal changes. Peripheral precocious puberty is commonly secondary to isolated sources of sex steroids such as tumours, exogenous steroids or as part of the McCune Albright syndrome. Long-term consequences of precocious puberty especially the central type include short stature and psychological problems. Children presenting with features of precocious puberty (PP) must be thoroughly assessed starting with a detailed history, physical examination and initiation of appropriate investigations followed by categorisation of the PP. A multidisciplinary team (consisting of a paediatrician an adolescent gynaecologist, a paediatric endocrinologist, a geneticist and a clinical psychologist) is essential for management. Treatment should aim at arresting or reversing the pubertal changes, counselling and support both for the children and their families and, addressing the implications for genetic causes for the family (if any). Untreated, precocious puberty may have considerable negative psychological and medical impact on the child.
Publicações recentes
[Clinical analysis of 4 cases of McCune-Albright syndrome presenting with infantile cholestasis].
Genetics of Familial Acromegaly and Pituitary Gigantism.
The use of denosumab in rare bone diseases in adults: a systematic review from the ECTS Rare Bone Disease Action Group.
Letrozole effectively treats peripheral precocious puberty in a girl with McCune-Albright syndrome: a case report and review of the literature.
Fibrous dysplasia in a patient with Carney complex.
📚 EuropePMC661 artigos no totalmostrando 195
Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: a retrospective study of a French cohort.
Annales d'endocrinologieEfficacy of Denosumab for Treatment of Pain in Fibrous Dysplasia and McCune-Albright Syndrome: A Systematic Review.
Clinical endocrinologyA Case of Pediatric Adrenocortical Carcinoma With McCune-Albright Syndrome Masquerading as Spontaneously Regressing Neuroblastoma.
Pediatric blood & cancerPrecocious puberty: An overview of pathogenesis, clinical presentation, and management.
Best practice & research. Clinical obstetrics & gynaecologycAMP/PKA signaling in endocrine hypertension: genetic mechanisms and pathophysiological insights.
Frontiers in endocrinologyComparison of traditional and new treatments for fibrous dysplasia: a systematic review and meta-analysis.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USADenosumab in pediatric patients with fibrous dysplasia/McCune-Albright syndrome: a single-center, open-labeled study.
Frontiers in endocrinologyAnesthetic management of a patient with McCune-Albright syndrome complicated by pathological cervical fracture: a case report.
BMC anesthesiologyEffects of anti-RANKL, Zoledronate or combination therapy in a mouse model of fibrous dysplasia: a preclinical study.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchMedication-related osteonecrosis of the jaw in patient with McCune-Albright syndrome: A rare case report.
Journal of oral and maxillofacial pathology : JOMFPMcCune-Albright Syndrome: A Case Series.
CureusOptimizing Surgical Management of Craniofacial and Orbital Fibrous Dysplasia: A Multi-Center Retrospective Study.
Head & neckAddressing the unmet challenge of pain in rare bone diseases: new insights from the RUDY UK registry.
Orphanet journal of rare diseasesMcCune-Albright Syndrome as a Rare Cause of Fanconi Syndrome and Kidney Failure: A Case Report and Literature Review.
Kidney medicineBurosumab treatment for FGF23-related hypophosphatemia in a two-year-old girl with McCune-Albright syndrome.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyA case and review of fibroblast growth factor-23-mediated hypophosphatemic osteomalacia in the absence of pathogenic PHEX variants.
JBMR plusDelayed Diagnosis of McCune-Albright Syndrome in Adulthood Revealed by Spinal Fibrous Dysplasia: Report of 2 Cases.
JCEM case reportsNo Regression With Imatinib Treatment for Craniofacial Fibrous Dysplasia Associated With McCune-Albright Syndrome.
Journal of pediatric hematology/oncologyThe Natural Course of Pain in Fibrous Dysplasia/McCune Albright Syndrome: A Prospective Follow Up Study.
Calcified tissue internationalThe GNAS Gene: Fibrous Dysplasia, McCune-Albright Syndrome, and Skeletal Structure and Function.
GenesPolyostotic fibrous dysplasia with neuro-axial involvement: a case report and clinical insights.
Acta neurologica BelgicaCraniofacial fibrous dysplasia: Long-term postoperative outcomes in a retrospective case series with up to 40 years of follow-up.
BoneCross-union surgery for tibiofibular fractures in McCune-Albright syndrome: a case report and literature review.
Frontiers in pediatricsPeripheral Precocious Puberty Due to Autonomous Gonadal Activation: A Multicenter Experience.
CureusGrowth and pubertal outcome of three-years medical treatment of peripheral precocious puberty in a boy with McCune-Albright Syndrome: a case report.
BMC pediatricsClinical application of radiofrequency echographic multi-spectrometry (REMS) for diagnosis and follow-up in several rare bone disorders: a case series.
BMC medical imagingChildhood fibrous dysplasia.
Orthopaedics & traumatology, surgery & research : OTSRA rare case of McCune-Albright syndrome in a young male with hyperthyroidism and hypertrophic scars.
Oxford medical case reportsLong-Term Follow-Up of a Patient with McCune-Albright Syndrome: A Case Report.
Journal of clinical medicineMcCune-Albright syndrome with multiple hyperfunctional endocrinopathies: diagnosis, treatment, and long-term follow-up: a case report.
Frontiers in endocrinologyClinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.
Calcified tissue internationalPlasma proteomic markers of pain and emotional dysfunction in fibrous dysplasia/McCune-Albright syndrome.
BoneManagement of pediatric testicular microlithiasis.
Frontiers in pediatricsEndoscopic endonasal transsphenoidal approach of pituitary macroadenoma and optic canal stenosis in a patient with McCune-Albright syndrome.
Quantitative imaging in medicine and surgeryGenotype-Phenotype Correlation in Fibrous Dysplasia/McCune-Albright Syndrome Patients With Craniofacial Lesions.
Oral diseases[Malignancy of fibrous dysplasia of the calvarial bone in patient with McCune-Albright syndrome: clinical observation and literature review].
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoEarly Manifestation of McCune-Albright Syndrome in a 32-Month-Old Female: A Rare Case Report.
Journal of investigative medicine high impact case reportsSingle-cell analysis of human fibrous dysplasia bone reveals a fibrotic transcriptome and GNAS variants in endothelial, perivascular, and stromal cells.
American journal of human geneticsSkeletal and endocrine manifestations of McCune-Albright syndrome in patients with fibrous dysplasia.
Journal of plastic, reconstructive & aesthetic surgery : JPRASBurosumab treatment for fibroblast growth factor-23-associated hypophosphatemia in an adult patient with severe fibrous dysplasia in McCune-Albright syndrome: case report and review of the literature.
JBMR plusFibrous dysplasia/McCune-Albright syndrome: state-of-the-art advances, pathogenesis, and basic/translational research.
Orphanet journal of rare diseasesThyroid Scan Conundrum in a Rare Case of McCune-Albright Syndrome.
Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, India[Precocious puberty in the McCune-Albright Syndrome: a case report].
The Pan African medical journalSegmental macular hyperpigmentation: new genes, new clinical implications.
The British journal of dermatologyMcCune-Albright syndrome: a case of an adult with fibrous dysplasia, severe cardiopulmonary complications, acromegaly, and chronic myeloid leukemia.
JBMR plusUpdate on the medical management of fibrous dysplasia of the bone.
Therapeutic advances in endocrinology and metabolismRASopathies. Part II: Cutaneous and extracutaneous manifestations.
Journal of the American Academy of DermatologySurgical Management of Fibrous Dysplasia and Associated Syndromes.
The Journal of the American Academy of Orthopaedic Surgeons[Clinical characteristics and healthcare burden in patients with McCune-Albright syndrome].
Zhonghua er ke za zhi = Chinese journal of pediatricsRASopathies. Part I: Genetics and therapeutic considerations.
Journal of the American Academy of Dermatology[Malignant transformation of polyostotic fibrous dysplasia in long bone: a clinicopathological analysis of four cases].
Zhonghua bing li xue za zhi = Chinese journal of pathologyUse of burosumab in McCune Albright syndrome: case report and review of literature in mosaic disorders with FGF23 overproduction.
Frontiers in endocrinologyA Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder.
American journal of medical genetics. Part APeripheral precocious puberty in girls with McCune-Albright syndrome: a case series.
Archives of endocrinology and metabolismSafe Continuation of Pegvisomant During Pregnancy in a Patient With Fibrous Dysplasia/McCune-Albright Syndrome.
JCEM case reportsCase Report: Late diagnosis of McCune-Albright with severe kyphoscoliosis, acromegaly and tertiary hyperparathyroidism.
Frontiers in endocrinologyA Dominant Mutation in Gαs-Protein Increases Hair Pigmentation.
Pigment cell & melanoma researchIntramuscular Myxoma in the Vastus Medialis Muscle: A Case Report and Brief Review of the Literature.
Journal of orthopaedic case reportsBone pain in fibrous dysplasia does not rely on aberrant sensory nerve sprouting or neuroma formation.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchDeveloping a Standardised Dataset for Natural History Studies in Fibrous Dysplasia/McCune-Albright Syndrome.
Calcified tissue internationalBurosumab treatment of a child with McCune-Albright syndrome/polyostotic fibrous dysplasia: challenges and benefits.
JBMR plusNonmalignant Adrenocorticotrophic Hormone-Independent Cushing's Syndrome in Pediatric Patients: A Retrospective Observational Cohort Study.
Hormone research in paediatricsClinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral Center.
Frontiers in endocrinologyAnalysis of Series of Cases of Fibrous Dysplasia of Proximal Femur in Pediatric Population.
Journal of orthopaedic case reportsTwo-stage surgical strategy for extensive craniofacial fibrous dysplasia with cerebral compression.
Acta neurochirurgicaA Case of McCune-Albright Syndrome with External Auditory Canal Stenosis Treated with Image-Guided Surgery System-Assisted Temporal Bone Surgery.
The journal of international advanced otologyA Case of McCune Albright Syndrome With Rare Extensive Polyostotic Fibrous Dysplasia.
Clinical nuclear medicinePosterior Reversible Encephalopathy Syndrome in the Context of McCune-Albright Syndrome: A Case Report.
CureusSyndromic fibrous dysplasia of the proximal femur.
BMJ case reportsFertility journey of a patient with McCune-Albright syndrome associated with bilateral ovarian involvement.
F&S reportsA Qualitative Approach to Quality of Life in Fibrous Bone Dysplasia /McCune Albright Syndrome: Looking Beyond Quantitative Analysis.
Calcified tissue internationalIdentifying Pain Subtypes in Patients With Craniofacial Lesions of Fibrous Dysplasia/McCune-Albright Syndrome.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsSynchronous bilateral adrenalectomy for ACTH-independent Cushing's syndrome in children: multidisciplinary management.
European journal of endocrinologySafety and Efficacy of Moderate-dose Denosumab in Fibrous Dysplasia: Observational Results From a Phase 2 Clinical Trial.
The Journal of clinical endocrinology and metabolismMcCune-Albright Syndrome: A Case From Mauritius.
CureusPituitary Acrogigantism: From the Past to the Future.
Frontiers of hormone researchRigid intramedullary nailing of lower limb segments in children and adolescents with metabolic bone disease.
Journal of pediatric orthopedics. Part BMcCune-Albright Syndrome.
The New England journal of medicine"At the end of the tunnel": Endonasal endoscopy for a giant GH secreting pituitary tumor with conchal dysplastic sphenoid in McCune-Albright syndrome.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaDiagnosis and management of pituitary adenomas in children and adolescents.
European journal of endocrinologyMalignant transformation of craniofacial fibrous dysplasia: A clinicopathological, immunohistochemical and molecular analysis of 15 cases in one single institution.
Journal of stomatology, oral and maxillofacial surgeryExploring mutations: GNAS and CDC73 in jaw fibroosseous lesions.
Pathology, research and practiceImprovement of Fibrous Dysplasia After Burosumab Therapy in a Pediatric Patient with McCune-Albright Syndrome: A Case Report.
JBJS case connectorDissecting the heterogeneity of craniofacial lesions in patients with fibrous dysplasia/McCune-Albright Syndrome.
International journal of oral and maxillofacial surgery[Analysis of clinical features of 193 Chinese patients with McCune-Albright syndrome through a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsFibrous dysplasia: A tale of two syndromes.
SA journal of radiologyCraniomaxillofacial Fibro-osseous Lesions in Children.
Oral and maxillofacial surgery clinics of North AmericaPresentation and Care for Children with Peripheral Precocious Puberty.
Endocrinology and metabolism clinics of North AmericaDiagnostic Conundrum of a Sertoli Cell Tumor in a 2-Year-Old Girl with Peripheral Precocious Puberty and a Café-au-Lait Macule: A Case Report.
Hormone research in paediatricsFibrocartilaginous Dysplasia of the Proximal Femur in Two Pediatric Patients, Including a Pathologic Fracture in a Patient With McCune-Albright Syndrome.
Fetal and pediatric pathologyHeterozygous gain of function variant in GUCY1A2 may cause autonomous ovarian hyperfunction.
European journal of endocrinologyRecent research advances in pain mechanisms in McCune-Albright syndrome thinking about the pain mechanism of FD/MAS.
Journal of orthopaedic surgery and researchRNA-based bone histomorphometry: method and its application to explaining postpubertal bone gain in a G610C mouse model of osteogenesis imperfecta.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchAcquired Forms of Fibroblast Growth Factor 23-Related Hypophosphatemic Osteomalacia.
Endocrinology and metabolism (Seoul, Korea)McCune-Albright syndrome: Beyond classical craniofacial deformities.
Joint bone spine[Research progress on the pathogenic mechanisms, diagnosis and treatment of McCune-Albright syndrome].
Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]A young woman with atypical McCune-Albright syndrome and the difficult road to recovery: a case report.
Frontiers in surgeryA pathogenic role for brain-derived neurotrophic factor (BDNF) in fibrous dysplasia of bone.
BoneDiagnostic journey for individuals with fibrous dysplasia / McCune albright syndrome (FD/MAS).
Orphanet journal of rare diseasesERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions.
European journal of medical genetics[Expert consensus on diagnosis and management of McCune-Albright syndrome in children (2023)].
Zhonghua er ke za zhi = Chinese journal of pediatricsChoosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS).
GenesFibrous Dysplasia Masquerading as Sternal Malignancy: A Rare and Challenging Presentation.
CureusAdrenal Cushing's syndrome in children.
Frontiers in endocrinologyIncidence and Prevalence of Fibrous Dysplasia/McCune-Albright Syndrome: A Nationwide Registry-Based Study in Denmark.
The Journal of clinical endocrinology and metabolism[McCune-Albright syndrome: a case report and literature review].
The Pan African medical journalPasireotide: potential treatment option for McCune-Albright-associated acromegaly.
European journal of endocrinologyFibula allograft transplantation combined with locking plate for treatment of recurrent monostotic fibular fibrous dysplasia: A case report.
World journal of clinical casesThe Facial Osteoplasty for Polyostotic Fibrous Dysplasia in a Patient With McCune-Albright Syndrome: A Case Report.
CureusFormulation and characterisation of metyrapone suppositories for the first effective long-term use in an infant with McCune-Albright syndrome-related Cushing syndrome.
European journal of hospital pharmacy : science and practiceInherited fibroblast growth factor 23 excess.
Best practice & research. Clinical endocrinology & metabolismPrecocious Puberty: Types, Pathogenesis and Updated Management.
CureusSuccessful Use of Metyrapone Suppositories in an Infant with Neonatal Cushing and McCune Albright Syndrome: A Case Report.
Hormone research in paediatricsMcCune-Albright syndrome: Anesthetic management of cesarean section.
International journal of obstetric anesthesiaThe 'Eye Mask Sign' in Fibrous Dysplasia on 99mTc-MDP Skeletal Scintigraphy and SPECT/CT.
Nuclear medicine and molecular imagingSerum Phosphorus as a Driver of Skeletal Morbidity in Fibrous Dysplasia.
The Journal of clinical endocrinology and metabolismDiagnosis and treatment of McCune-Albright syndrome: A case report.
World journal of clinical casesNeonatal cholestasis as the onset symptom of McCune-Albright syndrome: case reports and a literature review.
Frontiers in pediatrics[The enigma of Henry IV's disease: Did he suffer from McCune-Albright syndrome/fibrous dysplasia?].
Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de CitologiaA Rare Case of Headache in a Patient With McCune-Albright Syndrome: A Triple Threat.
CureusRANK-L inhibitor as a promising agent for refractory extensive craniofacial fibrous dysplasia: A case report.
Head & neckPhenotyping Pain in Patients With Fibrous Dysplasia/McCune-Albright Syndrome.
The Journal of clinical endocrinology and metabolismEfficacy of antiresorptive agents in fibrous dysplasia and McCune Albright syndrome, a systematic review and meta-analysis.
Reviews in endocrine & metabolic disordersGH-secreting pituitary adenoma in the course of McCune‑Albright syndrome in a 21-year-old patient complicated by hepatocellular carcinoma.
Endokrynologia PolskaCase Report: Severe McCune-Albright syndrome presenting with neonatal Cushing syndrome: navigating through clinical obstacles.
Frontiers in endocrinologyThe longest reported survival of a child with McCune-Albright syndrome and a severe early presenting phenotype consisting of neonatal cushing syndrome, cardiac and liver diseases.
Journal of surgical case reportsLesion Expansion in Gnathic Fibrous Dysplasia: Natural History, Indicators of Progression, and Response to Bisphosphonates.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchBrain and/or Spinal Cord Tumors Accompanied with Other Diseases or Syndromes.
Advances in experimental medicine and biologyLower-limb intramedullary nailing in patients with polyostotic fibrous dysplasia who had a previous unsuccessful treatment. A report of 48 cases.
Journal of orthopaedics and traumatology : official journal of the Italian Society of Orthopaedics and TraumatologyClinical course of peripheral precocious puberty in girls due to autonomous ovarian cysts.
Clinical endocrinology[Clinical features of Chilean patients with Fibrous Dysplasia/McCune-Albright Syndrome].
Revista medica de Chile[Further progress of the etiology,diagnosis and treatment of peripheral precocious puberty].
Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]Severe osteoporosis in a young man with bilateral Cushing's syndrome: a case report.
Journal of medical case reportsDenosumab use in bone fibrous dysplasia refractory to bisphosphonate: A retrospective multicentric study.
BoneSuccessful ART outcome in a woman with McCune-Albright syndrome: a case report and literature review.
Journal of assisted reproduction and geneticsBrain and eye involvement in McCune-Albright Syndrome: clinical and translational insights.
Frontiers in endocrinologyNormal Adult Height in an Untreated Boy With McCune-Albright Syndrome Presenting With Precocious Puberty.
AACE clinical case reportsMcCune-Albright Syndrome: A Case Report and Review of Literature.
International journal of molecular sciencesMazabraud Syndrome Associated with McCune-Albright Syndrome: A Case Report and Literature Review.
Case reports in oncologyPituitary Tumorigenesis-Implications for Management.
Medicina (Kaunas, Lithuania)Coxa Vara Deformity in Fibrous Dysplasia/McCune-Albright Syndrome: Prevalence, Natural History and Risk Factors: A Two-Center Study.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchPatient with McCune albright syndrome: Case report and 10 Years of follow-up imaging examination.
Journal of clinical and experimental dentistryClinical value of RANKL, OPG, IL-6 and sclerostin as biomarkers for fibrous dysplasia/McCune-Albright syndrome.
BonePituitary tumours: molecular and genetic aspects.
The Journal of endocrinologyAutonomous growth hormone secretion due to McCune Albright syndrome in paediatric age group: an ominous triad.
EndocrineCraniofacial Fibrous Dysplasia: Clinical and Therapeutic Implications.
Current osteoporosis reportsMedication-Related Osteonecrosis of the Jaws (MRONJ) in Children and Young Patients-A Systematic Review.
Journal of clinical medicineStructural and Functional Implication of Natural Variants of Gαs.
International journal of molecular sciencesMultiple subepidermal calcified nodule confined to café-au-lait spots.
The Journal of dermatologyLow rates of neurological abnormalities in patients with pigmentary mosaicism: A retrospective cohort study from a tertiary dermatology center.
Pediatric dermatologyPharmacological Interventions Targeting Pain in Fibrous Dysplasia/McCune-Albright Syndrome.
International journal of molecular sciences[Identification of pathogenic variants in three Chinese patients with McCune-Albright syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsCase report: Surgical treatment of McCune-Albright syndrome with hyperthyroidism and retrosternal goiter: A case report and literature review.
Frontiers in surgeryExpression of RANKL in breast cancer tissue in patients with fibrous dysplasia/McCune-Albright syndrome.
BoneMcCune-Albright syndrome with acromegaly: A case report with characteristic radiographic features of fibrous dysplasia.
Imaging science in dentistryIdentification of GNAS Variants in Circulating Cell-Free DNA from Patients with Fibrous Dysplasia/McCune Albright Syndrome.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchSurgical correction of valgus deformities of the knee in Polyostotic Fibrous Dysplasia.
Orthopedic reviewsA multidisciplinary care pathway improves quality of life and reduces pain in patients with fibrous dysplasia/McCune-Albright syndrome: a multicenter prospective observational study.
Orphanet journal of rare diseasesHyperthyroidism in McCune-Albright Syndrome - a case report.
Journal of pediatric endocrinology & metabolism : JPEM[OPTIC DISC EDEMA IN McCUNE-ALBRIGHT SYNDROME].
HarefuahBurosumab Therapy in a Paediatric Patient with McCune-Albright Syndrome: A Case Report.
Hormone research in paediatricsOtalgia revealing McCune-Albright syndrome: A case report.
Annals of medicine and surgery (2012)McCune-Albright Syndrome: Vision Loss and Strabismus as the Initial Symptoms in a Child.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyNonspecific Cystic Degeneration in Craniofacial Fibrous Dysplasia: A Rare Finding.
Contemporary clinical dentistryPhosphatonins: From Discovery to Therapeutics.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsCraniofacial fibrous dysplasia and aneurismal bone cyst in a patient with McCune-Albright syndrome. A case report and review of the literature.
NeurocirugiaLarge café-au-lait spots on a 5-year-old boy.
JAAD case reportsCushing syndrome as a failed cardiac screen in a patient with McCune-Albright syndrome: a case report.
Journal of medical case reportsMalignant Sarcomatous Degeneration of Craniofacial Fibrous Dysplasia.
The Journal of craniofacial surgeryMcCune-Albright Syndrome in Infant with Growth Hormone Excess.
GenesPathological Femoral Shaft Fracture With McCune-Albright Syndrome With Hyperthyroidism Managed With Oral Alendronate: A Case Report.
CureusACTH-independent Cushing's syndrome due to ectopic endocrinologically functional adrenal tissue caused by a GNAS heterozygous mutation: a rare case of McCune-Albright syndrome accompanied by central amenorrhea and hypothyroidism: a case report and literature review.
Frontiers in endocrinologySleep Problems in Children With Neurocutaneous Syndromes: A Cross-Sectional Study.
Journal of child neurology68Ga-DOTA-TATE uptake in polyostotic fibrous dysplasia with McCune-Albright syndrome.
Revista espanola de medicina nuclear e imagen molecularA case report of McCune-Albright syndrome with hepatic manifestations.
Clinical case reportsSurgical management of syndromic versus non-syndromic craniofacial fibrous dysplasia: a systematic review and meta-analysis.
The British journal of oral & maxillofacial surgeryLong-term imaging course of Chiari malformation type I due to fibrous dysplasia/McCune-Albright syndrome.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFibrous dysplasia and McCune-Albright syndrome: A case report with review of literature on the rehabilitation approach.
Turkish journal of physical medicine and rehabilitationRisk of developing spontaneous MRONJ in fibrous dysplasia patients treated with bisphosphonates: a systematic review of the literature.
Quintessence international (Berlin, Germany : 1985)Genetic Alterations in Benign Adrenal Tumors.
BiomedicinesEffects of zoledronic acid therapy in fibrous dysplasia of bone: a single-center experience.
Archives of endocrinology and metabolismManagement Strategies of Fibrous Dysplasia Involving the Paranasal Sinus and the Adjacent Skull Base.
Ear, nose, & throat journalCase Report: A Neuro-Ophthalmological Assessment of Vision Loss in a Pediatric Case of McCune-Albright Syndrome.
Frontiers in medicineMolecular genetic testing in the management of pituitary disease.
Clinical endocrinologySurgical treatment of femoral deformities in polyostotic fibrous dysplasia and McCune-Albright syndrome: A literature review.
World journal of orthopedicsIncidental Intercostal Intramuscular Myxoma With Fibrous Dysplasia in a Patient With Mazabraud's and McCune Albright Syndromes.
CureusNeuropathic-like Pain in Fibrous Dysplasia/McCune-Albright Syndrome.
The Journal of clinical endocrinology and metabolismPostoperative thyroid crisis in an 11-year old male with McCune-Albright syndrome and atypical triiodothyronine hyperthyroidism: A case report.
MedicineIntramedullary Nailing for Lower Limb Polyostotic Fibrous Dysplasia in Children: A Long-term Follow-up Study.
Journal of pediatric orthopedics[Clinicopathological analysis of 105 patients with fibrous dysplasia of cranio-maxillofacial region].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesA rare pediatric case of McCune-Albright syndrome with acute visual disturbance: Case report.
MedicineInhibition of IL-6 in the treatment of fibrous dysplasia of bone: The randomized double-blind placebo-controlled TOCIDYS trial.
BoneCutaneous mosaicism: Special considerations for women.
International journal of women's dermatologyClinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws.
Molecular genetics & genomic medicineTreatment of fibrous dysplasia: focus on denosumab.
Expert opinion on biological therapyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Addressing the unmet challenge of pain in rare bone diseases: new insights from the RUDY UK registry.
- A Case of Pediatric Adrenocortical Carcinoma With McCune-Albright Syndrome Masquerading as Spontaneously Regressing Neuroblastoma.
- Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: a retrospective study of a French cohort.
- Efficacy of Denosumab for Treatment of Pain in Fibrous Dysplasia and McCune-Albright Syndrome: A Systematic Review.
- Precocious puberty: An overview of pathogenesis, clinical presentation, and management.
- [Clinical analysis of 4 cases of McCune-Albright syndrome presenting with infantile cholestasis].
- Genetics of Familial Acromegaly and Pituitary Gigantism.
- The use of denosumab in rare bone diseases in adults: a systematic review from the ECTS Rare Bone Disease Action Group.
- Letrozole effectively treats peripheral precocious puberty in a girl with McCune-Albright syndrome: a case report and review of the literature.
- Fibrous dysplasia in a patient with Carney complex.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:562(Orphanet)
- OMIM OMIM:174800(OMIM)
- MONDO:0018919(MONDO)
- GARD:6995(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q727008(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
