scholarly journals McCune Albright Syndrome: A Case Report

2020 ◽  
Vol 40 (2) ◽  
pp. 134-137
Author(s):  
Subhana Thapa Karki ◽  
Vandana Jain
Keyword(s):  
Case Report ◽  
Fibrous Dysplasia ◽  
Precocious Puberty ◽  
Genetic Disease ◽  
Clinical Presentation ◽  
Endocrine Disorders ◽  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
Albright Syndrome ◽  
Mccune Albright

McCune Albright syndrome (MAS) is a very rare genetic disease characterised by any two of the following three findings: café au lait spots, polyosteotic fibrous dysplasia and endocrine disorders. The clinical presentation of MAS may vary depending on which of the various components of the syndrome predominate. Here, we report one case of MAS presenting with precocious puberty.

scholarly journals DIAGNOSIS OF ENDOCRINE DISEASE: Mosaic disorders of FGF23 excess: Fibrous dysplasia/McCune–Albright syndrome and cutaneous skeletal hypophosphatemia syndrome

2020 ◽  
Vol 182 (5) ◽  
pp. R83-R99
Author(s):  
Luis F de Castro ◽  
Diana Ovejero ◽  
Alison M Boyce
Keyword(s):  
Fibrous Dysplasia ◽  
Clinical Presentation ◽  
Mapk Pathway ◽  
Endocrine Disorders ◽  
Gain Of Function ◽  
Mccune Albright Syndrome ◽  
Endocrine Disease ◽  
Skeletal Involvement ◽  
Albright Syndrome ◽  
Mccune Albright

Fibrous dysplasia/McCune–Albright Syndrome (FD/MAS), arising from gain-of-function mutations in Gαs, and cutaneous skeletal hypophosphatemia syndrome (CSHS), arising from gain-of-function mutations in the Ras/MAPK pathway, are strikingly complex, mosaic diseases with overlapping phenotypes. Both disorders are defined by mosaic skin and bone involvement, and both are complicated by increased FGF23 production. These similarities have frequently led to mis-diagnoses, primarily in patients with CSHS who are often assumed to have FD/MAS. The intriguing similarities in skeletal involvement in these genetically distinct disorders have led to novel insights into FGF23 physiology, making an understanding of FD/MAS and CSHS relevant to both clinicians and researchers interested in bone and endocrine disorders. This review will give an overview of FD/MAS and CSHS, focusing on the roles of mosaicism and FGF23 in the pathogenesis and clinical presentation of these disorders.

scholarly journals McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism – case report

2016 ◽  
Vol 89 (4) ◽  
pp. 559-564
Author(s):  
Iulian Raus ◽  
Roxana Elena Coroiu
Keyword(s):  
Fibrous Dysplasia ◽  
Insufficiency Fracture ◽  
Endocrine Disorders ◽  
Appendicular Skeleton ◽  
Laboratory Findings ◽  
Mccune Albright Syndrome ◽  
Magnetic Resonance Imaging Mri ◽  
Albright Syndrome ◽  
The Right ◽  
Mccune Albright

McCune–Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations. He had also been feeling pain in the right femur since he was younger, without any trauma history, leading to difficulties of ambulation and limping occasionally. His physical examination revealed café-au-lait spots with irregular borders and right testicular agenesis. Laboratory findings identified hyperthyroidism with hyperparathyroidism. Radiographs of the pelvis revealed multiple lytic lesions of the right femur and magnetic resonance imaging (MRI) characterized these lesions as specific to fibrous dysplasia of the bone, without any insufficiency fracture at this level.The association of café-au-lait skin spots with bone fibrous dysplasia, and hyperthyroidism in this patient suggested the diagnosis of McCune – Albright syndrome.

scholarly journals Clinical, microscopic and imaging findings associated to Mccune-Albright syndrome: report of two cases

2008 ◽  
Vol 19 (2) ◽  
pp. 165-170 ◽  
Author(s):  
Samuel Porfírio Xavier ◽  
Michel Campos Ribeiro ◽  
Luciana Gonçalves Sicchieri ◽  
Luiz Guilherme Brentegani ◽  
Suzie Aparecida Lacerda
Keyword(s):  
Fibrous Dysplasia ◽  
The Body ◽  
Lower Limbs ◽  
Endocrine Disorders ◽  
Polyostotic Fibrous Dysplasia ◽  
Radiographic Appearance ◽  
Mccune Albright Syndrome ◽  
Aged Woman ◽  
Albright Syndrome ◽  
Mccune Albright

McCune-Albright syndrome is characterized by the triad café-au-lait cutaneous spots, polyostotic fibrous dysplasia and endocrinopathies. This article presents two cases of McCune-Albright syndrome in a middle-aged woman and a young girl. Both patients presented café-au-lait spots on the face and other parts of the body and expansion of the mandible with radiopaque-radiolucent areas with ground-glass radiographic appearance, and were diagnosed as having fibrous dysplasia and endocrine disorders. The patient of Case 1 had fibrous dysplasia on the upper and lower limbs, thorax, face and cranium, early puberty, hyperglycemia, hyperthyroidism and high serum alkaline phosphatase levels. The patient of Case 2 presented lesions on the upper limbs and evident endocrine disorders. In both cases presented in this article, the initial exam was made because of the mandibular lesion. However, a diagnosis of fibrous dysplasia must lead to investigation of the involvement of other bones, characterizing polyostotic fibrous dysplasia, which is manifested in a number of diseases. An accurate differential diagnosis is mandatory to determine the best treatment approach for each case.

Polyostotic Fibrous Dysplasia Related to Mccune Albright Syndrome: Case Report

2014 ◽  
Vol 117 (2) ◽  
pp. e131
Author(s):  
MATHEUS HENRIQUE ALVES DE LIMA ◽  
AMANDA LAÍSA DE OLIVEIRA LIMA ◽  
THAYNÁ MELO DE LIMA MORAIS ◽  
KARINE CÁSSIA BATISTA LÚCIO E SILVA ◽  
KARTLAND VIEIRA DE LUNA PAIVA ◽  
...  
Keyword(s):  
Case Report ◽  
Fibrous Dysplasia ◽  
Polyostotic Fibrous Dysplasia ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright

Odontoiatric perspectives and osteonecrosis of the jaw as a possible adverse effect of bisphosphonates therapy in fibrous dysplasia and McCune-Albright syndrome

2016 ◽  
Vol 29 (3) ◽  
Author(s):  
Daniele Tessaris ◽  
Patrizia Matarazzo ◽  
Roberto Lala ◽  
Patrizia Defabianis
Keyword(s):  
Fibrous Dysplasia ◽  
Side Effect ◽  
Osteonecrosis Of The Jaw ◽  
Bisphosphonate Therapy ◽  
Adverse Side Effect ◽  
Endocrine Disorders ◽  
Mccune Albright Syndrome ◽  
Number Of Patients ◽  
Albright Syndrome ◽  
Mccune Albright

AbstractMcCune-Albright syndrome (MAS) is characterized by the triad of polyostotic bone fibrous dysplasia (PFD), endocrine disorders, and café-au-lait skin pigmentation. Ninety percent of MAS patients have fibrous dysplasia (FD) craniofacial lesions. Osteonecrosis of the jaw (ONJ) has been described as an adverse side effect of bisphosphonate therapy. The aim of the study was to investigate evidence of clinical and/or radiological signs of ONJ in FD/MAS pediatric patients due to bisphosphonate therapy and describe odontoiatric tools in this population.Thirteen FD/MAS patients were enrolled. All patients during pediatric age have been treated with pamidronate infusions. They underwent complete oral clinical examination. Ortopantomography and/or CT were evaluated in all cases.No patient developed ONJ. None of them showed radiological signs different from jaw FD. In spite of the low number of patients enrolled, results confirm that, in this population, ONJ can be ruled out as a chronic adverse side effect of bisphosphonate therapy.

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