Scoliosis with peculiar radiological features in a patient with McCune-Albright syndrome.
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SUBMITTER: Michev A
PROVIDER: S-EPMC8301555 | biostudies-literature | 2021 Jul
REPOSITORIES: biostudies-literature
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Scoliosis with peculiar radiological features in a patient with McCune-Albright syndrome.
Michev Alexandre A Lungarotti Luca L Prevedoni Gorone Maria Sole MS Apicella Antonia A Di Vincenzo Giulia G Marseglia Gian Luigi GL Brambilla Ilaria I
Clinical case reports 20210723 7
Patients with McCune-Albright Syndrome (MAS) should always attend regular follow-up. Beside the endocrinological aspects, the screening must take into account osteoarticular complications such as scoliosis, even in patients without fibrous dysplasia. ...[more]
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Project description:McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture. Scoliosis is common and may be progressive. In addition to PP (vaginal bleeding or spotting and development of breast tissue in girls, testicular and penile enlargement and precocious sexual behavior in boys), other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth hormone excess, Cushing syndrome, and renal phosphate wasting. Café-au-lait spots usually appear in the neonatal period, but it is most often PP or FD that brings the child to medical attention. Renal involvement is seen in approximately 50% of the patients with MAS. The disease results from somatic mutations of the GNAS gene, specifically mutations in the cAMP regulating protein, Gs alpha. The extent of the disease is determined by the proliferation, migration and survival of the cell in which the mutation spontaneously occurs during embryonic development. Diagnosis of MAS is usually established on clinical grounds. Plain radiographs are often sufficient to make the diagnosis of FD and biopsy of FD lesions can confirm the diagnosis. The evaluation of patients with MAS should be guided by knowledge of the spectrum of tissues that may be involved, with specific testing for each. Genetic testing is possible, but is not routinely available. Genetic counseling, however, should be offered. Differential diagnoses include neurofibromatosis, osteofibrous dysplasia, non-ossifying fibromas, idiopathic central precocious puberty, and ovarian neoplasm. Treatment is dictated by the tissues affected, and the extent to which they are affected. Generally, some form of surgical intervention is recommended. Bisphosphonates are frequently used in the treatment of FD. Strengthening exercises are recommended to help maintaining the musculature around the FD bone and minimize the risk for fracture. Treatment of all endocrinopathies is required. Malignancies associated with MAS are distinctly rare occurrences. Malignant transformation of FD lesions occurs in probably less than 1% of the cases of MAS.
| S-EPMC2459161 | biostudies-literature
Project description:ContextCushing syndrome (CS) is a rare but potentially fatal feature of McCune-Albright syndrome (MAS). Optimal management, prognostic features, and long-term follow-up of this disorder have not been described.SettingThe study was conducted at an academic tertiary care center.PatientsA total of 112 patients participating in a natural history study at the National Institutes of Health (NIH) were evaluated, and 21 published cases were reviewed.InterventionsSubjects received observation, medical management, or bilateral adrenalectomy.Main outcome measuresWe measured prevalence, prognostic factors, and natural history.ResultsThe prevalence of CS among NIH patients was 7.1%. The median age at diagnosis was 3 months. Clinical features included "Cushingoid facies" (66.7%), failure to thrive (60.0%), low birth weight (50.0%), liver disease (36.7%), and heart disease (26.7%). Six patients (20.0%) died, four after adrenalectomy. Death was more likely in patients with comorbid heart disease (odds ratio, 13.3; P < 0.05). Of 23 survivors, 13 underwent adrenalectomy, and 10 exhibited spontaneous resolution. Two patients with spontaneous resolution who were tested later in life (3 and 15 yr after resolution) continued to have low-level, autonomous adrenal function with biochemical adrenal insufficiency. Compared to MAS patients without CS, patients with CS were more likely to have a cognitive/developmental disorder (44.4 vs. 4.8%; P < 0.001; odds ratio, 8.8).ConclusionsComorbid heart and liver disease were poor prognostic markers and may indicate the need for prompt adrenalectomy. The high incidence of cognitive disorders indicates a need for close developmental follow-up and parental counseling. Patients with spontaneous resolution of CS may develop adrenal insufficiency, and they require long-term monitoring.
| S-EPMC2853983 | biostudies-literature
Project description:BackgroundMcCune Albright syndrome (MAS), a disorder caused by somatic activating mutations in the GNAS gene, usually presents with cutaneous, skeletal, and endocrine manifestations. While focal lesions involving multiple tissues have been identified in MAS, almost nothing is known about gastrointestinal lesions in this disease.MethodsTwo MAS patients with perioral freckling, resembling Peutz-Jeghers syndrome (PJS), and two MAS patients without similar pigmentation underwent gastrointestinal endoscopy to establish if they had coexisting hamartomatous polyposis. Three of 4 subjects had documented GNAS mutations in peripheral blood. Genetic testing for STK11 and PRKAR1A genes was performed to exclude presence of coexistent PJS and Carney complex. Genetic testing of biopsy material was also performed.ResultsHamartomatous gastrointestinal polyps with histological features similar to those in PJS were observed in all 4 subjects, only in the stomach and/or upper duodenum. Activating GNAS mutations were found in the polyps or adjacent mucosa in 3 of 4 subjects. One patient each had mutation only in the blood or tissue, while 2 patients had both. No subject harboured any detectable PRKARIA or STK11 mutation as determined by direct DNA sequencing and copy number variation analysis.ConclusionsThese findings confirm that gastrointestinal polyps are a common manifestation of MAS, indicate an overlap between MAS and PJS, and point towards a putative interaction between the GNAS and STK11 genes in the pathogenesis of these two disorders. The findings suggest a need for routine gastrointestinal endoscopy in patients with MAS, to establish the true incidence of polyps in these patients.
| S-EPMC4034052 | biostudies-literature
Project description:ImportanceThe differential diagnosis for oral lentigines includes several syndromes with important associated systemic findings. McCune-Albright syndrome (MAS), a mosaic condition associated with café au lait pigmentation, is not typically considered a mucosal lentiginosis syndrome. The clinical phenotype of MAS is variable because of mosaicism, but oral pigmentation developing in mid-childhood to early adulthood should be recognized as a clinical feature of MAS.ObservationsWe present 4 patients with MAS who developed oral mucosal pigmentation during childhood or early adulthood. All patients had other characteristic findings of MAS including hyperfunctioning endocrinopathies, polyostotic fibrous dysplasia, and café au lait pigmentation.Conclusions and relevanceOral pigmentation is an underrecognized finding in MAS and presents later in development compared with the other mucosal lentiginosis syndromes. The diagnosis of MAS is most commonly a clinical diagnosis because mutational analysis is challenging in mosaic conditions. Expanding the cutaneous phenotype to include oral pigmentation further characterizes the clinical findings in this mosaic condition, broadens the differential diagnosis of syndromes with oral pigmentation, and in some cases may aid in earlier diagnosis of MAS.
| S-EPMC4933654 | biostudies-literature
Project description:McCune-Albright syndrome is a rare and challenging congenital sporadic disease involving the skin and skeletal and endocrine systems with a prevalence ranges from one in 100,000 to 1,000,000. In addition to the classical triad of fibrous dysplasia of bone, café au lait pigmented skin lesions and precocious puberty, other multiple endocrinological features, including hyperthyroidism, growth hormone excess, hypercortisolism, and hypophosphatemic rickets, have been reported. A brief review of the syndrome in children is here reported.
| S-EPMC7417367 | biostudies-literature
Project description:Introduction and importanceMcCune-Albright syndrome (MAS) is typically described by the asociation of cutaneous (coffee-at-milk spots), endocrine (endocrine hyperfunction most often precocious puberty), and fibrous dysplasia (FD). In 90% of cases, AD manifests itself as a disorder of the craniofacial skeleton, affecting the maxilla, mandible, and even the temporal bone.Case presentationWe report the case of a 14-year-old girl who presented with complaints of left otalgia with the notion of recurrent otitis evolving for one year, she presents as antecedent an early puberty. At the examination, we found café-au-lait macules, and a slight left exophthalmos without visual acuity decrease. Otoscopic examination showed a narrowing of the external auditory canal (EAC). An audiogram showed conductive hearing loss in the left ear; the air-bone gap was 35 dB. A computed tomography (CT) scan was performed, showing a large "ground glass" appearance of the left temporal region. Given the presence of the cafe-au-lait spot, fibrous dysplasia of the temporal bone, and a history of early puberty, the diagnosis of McCune-Albright syndrome was made.clinical discussionManagement of SMA is based on the needs of the individual patient and should be performed by a multidisciplinary team. Management of endocrinopathies is usually medical, with precocious puberty in girls most often treated with aromatase inhibitors. The objectives of the management of craniofacial DF are to correct the functional and aesthetic damage.ConclusionMcCune-Albright syndrome (MAS) is a rare disease. The involvement of the craniofacial region by FD during SAM is a complicated entity, in its effects and in its management.
| S-EPMC9577849 | biostudies-literature
Project description:BackgroundMcCune-Albright is a rare syndrome, caused by mutation of the GNAS1 gene, and is characterized by an appearance of multiple endocrinopathies, most commonly premature puberty, polyostotic fibrous dysplasia and skin changes called cafe au lait macules.Case reportWe present the case of a patient who is, to the best of our knowledge and after extensive review of literature, the youngest McCune-Albright syndrome patient with growth hormone excess, diagnosed at 8.9 months of age. An extensive diagnostic procedure was done upon the diagnosis. Hormonal assessment was performed and all hormone levels were within reference range, and an additional oral glucose suppression that noted the presence of growth hormone excess. Magnetic resonance imaging of the pituitary gland did not detect a tumor process. The genetic analysis of the GNAS1 gene from skin punch biopsy came back negative. Octreotide was administered as therapy for growth hormone excess at 9.8 months. After the introduction of therapy, we noted a decrease in growth rate from 29.38 to 16.6 cm/year.ConclusionThis case report emphasizes the lack of available data on treatment of growth hormone excess and follow-up in pediatric population and the need for further research.
| S-EPMC9407244 | biostudies-literature
Project description:ContextPain is a major symptom in adults with fibrous dysplasia/McCune-Albright syndrome (FD/MAS) and response to current treatments, including bisphosphonates and standard analgesics (nonsteroidal anti-inflammatory drugs and opiates) is unpredictable. No studies have explored whether the type of pain is variable in this patient group.ObjectiveTo determine the frequency of neuropathic-like pain in patients with FD/MAS.DesignRetrospective, dual registry study.SettingCommunity.PatientsFD/MAS online registries: the US-based Familial Dysautonomia Foundation (FDF) and the UK-based Rare and Undiagnosed Diseases (RUDY) study.InterventionSubjects completed questionnaires to evaluate the presence of features of neuropathic-like pain (painDETECT) and the impact on sleep quality (Pittsburgh Sleep Quality Index) and mental health (Hospital Anxiety and Depression Scale). Descriptive statistics were used to characterize the prevalence and associated burden of neuropathic-like pain.Main outcome measuresIncidence of neuropathic, nociceptive, and unclear pain.ResultsOf 249 participants, one third experienced neuropathic-like pain. This group had statistically significantly (P < 0.001) worse mental well-being and sleep in comparison to those with predominately nociceptive pain.ConclusionsNeuropathic-like pain is common in patients with FD/MAS and associated with worse quality of life. Evaluation of pain in patients with FD/MAS should include assessment of neuropathic-like pain to guide personalized approaches to treatment and inform future research.
| S-EPMC9113795 | biostudies-literature
Project description:Fibrous dysplasia (FD) is an uncommon and debilitating skeletal disorder resulting in fractures, deformity, functional impairment, and pain. It arises from post-zygotic somatic activating mutations in GNAS, in the cAMP-regulating transcript α-subunit, Gsα. Constitutive Gs signaling results in activation of adenylyl cyclase and dysregulated cAMP production. In the skeleton, this leads to the development of FD lesions with abnormal bone matrix, trabeculae, and collagen, produced by undifferentiated mesenchymal cells. FD may occur in isolation or in combination with extraskeletal manifestations, including hyperfunctioning endocrinopathies and café-au-lait macules, termed McCune-Albright syndrome (MAS). This review summarizes current clinical and translational perspectives in FD/MAS, with an emphasis on FD pathogenesis, natural history, pre-clinical and clinical investigation, and future directions.
| S-EPMC5035212 | biostudies-literature
Project description:ContextMcCune-Albright syndrome (MAS) is a rare disorder characterized by fibrous dysplasia of bone, café-au-lait macules, and hyperfunctioning endocrinopathies. It arises from somatic gain-of-function mutations in GNAS, which encodes the cAMP-regulating protein Gαs. Somatic GNAS mutations have been reported in intraductal papillary mucinous neoplasms (IPMNs) and various gastrointestinal (GI) tumors. The clinical spectrum and prevalence of MAS-associated GI disease is not well established.ObjectiveDefine the spectrum and prevalence of MAS-associated GI pathology in a large cohort of patients with MAS.DesignCross-sectional study.SettingNational Institutes of Health Clinical Center and The Johns Hopkins Hospital.MethodsFifty-four consecutive subjects with MAS (28 males; age range, 7 to 67 years) were screened with magnetic resonance cholangiopancreatography (MRCP).ResultsThirty of 54 subjects (56%) had radiographic GI abnormalities. Twenty-five (46%) of the screened subjects had IPMNs (mean age of 35.1 years). Fourteen of the 25 had IPMNs alone, and 11 had IPMNs and abnormal hepatobiliary imaging. The 30 patients with MAS-associated GI pathology had a higher prevalence of acute pancreatitis, diabetes mellitus, and skeletal disease burden of fibrous dysplasia than patients without GI disease.ConclusionsA broad spectrum of GI pathology is associated with MAS. IPMNs are common and occur at a younger age than in the general population. Patients with MAS should be considered for screening with a focused GI history and baseline MRCP. Further determination of the natural history and malignant potential of IPMNs in MAS is needed.
| S-EPMC6194803 | biostudies-literature