RESUMO
OBJECTIVE: To retrospectively analyze the clinical characteristics of 193 Chinese patients with McCune-Albright syndrome (MAS). METHODS: By using keywords "McCune-Albright syndrome", "Albright syndrome", or " fibrous dysplasia " as the search terms, 193 cases of MAS reported in China from January 1990 to November 2022 from the Wanfang data, CNKI, VIP, PubMed, and Embase databases were obtained, and their clinical data was retrospectively analyzed. Intergroup comparisons were carried out by using t test, Mann-Whitney U test, and X2 test. RESULTS: The 193 MAS patients had included 42 males and 151 females, with the median first-visit age of females being younger than males. The typical triad group had accounted for 46.1% of patients, and the middle first-visit and diagnosis age was younger than the atypical group. The primary reason for first-visit in males of MAS was fibrous dysplasia (FD), whilst that in females of MAS was peripheral precocious puberty (PPP). FD has occurred in 84.5% of the patients, with an average age of onset age being 6.1 years old, and 90% was ≤ 16 years of age. Endocrine hyperfunction was found in 79.3% of the patients, with a higher proportion in females compared with males (P < 0.05). Pituitary involvement was seen in 21.8% of the patients, and the incidence of craniofacial FD and cranial nerve compression was significantly higher in those with elevated growth hormone (GH) than without (P < 0.05). Café-au-Lait Spots were noted in 86.5% of the patients, and 28.3% (28/99) had located on the different side of FD. CONCLUSION: Most MAS patients had atypical manifestations and multi-systemic involvement. It is more common and occurs earlier in females. The most common reasons for initial diagnosis in male and female patients were FD and PPP, respectively. Patients with elevated GH should be examined for cranial nerve compression.
Assuntos
Displasia Fibrosa Poliostótica , Humanos , Displasia Fibrosa Poliostótica/genética , Masculino , Feminino , Criança , Adolescente , China , Pré-Escolar , Adulto , Estudos Retrospectivos , Adulto Jovem , Lactente , Povo Asiático/genética , Pessoa de Meia-Idade , População do Leste AsiáticoRESUMO
Sarcomatous transformation of fibrous dysplasia is extremely rare. We present the case of a 54-yearold man with multiple rib masses, multiple enlarged lymph nodes throughout the body, and multiple osteolytic lesions on computed tomography( CT). A positron emission tomography( PET) scan showed abnormal enhancement in each. A needle biopsy of the right supraclavicular fossa lymph node revealed sarcoidosis. Considering the possibility of malignancy associated with sarcoidosis, a rib tumor resection and mediastinal lymph node biopsy were performed to confirm the diagnosis of the rib lesion. The pathology results showed that the rib mass was a low-grade central osteosarcoma and the mediastinal lymph node was sarcoidosis. The distribution of the lesions was consistent with osteosarcoma secondary to multiple fibrous bone dysplasia. As the osteosarcoma was low grade, the patient was followed up. Three years after surgery, there was no increase in residual disease.
Assuntos
Neoplasias Ósseas , Osteossarcoma , Costelas , Humanos , Masculino , Costelas/diagnóstico por imagem , Costelas/cirurgia , Osteossarcoma/diagnóstico por imagem , Osteossarcoma/cirurgia , Osteossarcoma/complicações , Pessoa de Meia-Idade , Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/cirurgia , Neoplasias Ósseas/complicações , Tomografia Computadorizada por Raios X , Displasia Fibrosa Óssea/diagnóstico por imagem , Displasia Fibrosa Óssea/complicações , Displasia Fibrosa Óssea/cirurgia , Displasia Fibrosa Poliostótica/diagnóstico por imagem , Displasia Fibrosa Poliostótica/complicações , Displasia Fibrosa Poliostótica/cirurgiaRESUMO
Fibrocartilaginous dysplasia (FCD) is a variant of fibrous dysplasia that often involves the proximal femur in young adults. It has a similar appearance on imaging as other entities but has stippled calcifications within the lesion. The differential diagnosis often includes benign and malignant tumors such as fibrous dysplasia, chondroblastoma, enchondroma, and chondrosarcoma. Histology is required for diagnosis and treatment is typically surgical due to the potential for pain, pathologic fracture, and deformity. We report the clinical presentation, imaging findings, and management of two pediatric patients with fibrocartilaginous dysplasia of the proximal femur to (1) highlight that recognition that fibrous dysplasia may contain cartilage upon frozen section will avoid overly aggressive therapy, and (2) FCD can occur in the McCune-Albright syndrome.
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Fêmur , Displasia Fibrosa Poliostótica , Humanos , Displasia Fibrosa Poliostótica/diagnóstico , Displasia Fibrosa Poliostótica/complicações , Fêmur/patologia , Feminino , Masculino , Fraturas Espontâneas/etiologia , Fraturas Espontâneas/diagnóstico , Criança , Diagnóstico Diferencial , Displasia Fibrosa Óssea/diagnóstico , Displasia Fibrosa Óssea/complicações , Displasia Fibrosa Óssea/patologiaAssuntos
Displasia Fibrosa Poliostótica , Costelas , Humanos , Masculino , Displasia Fibrosa Poliostótica/diagnóstico por imagem , Displasia Fibrosa Poliostótica/diagnóstico , Costelas/diagnóstico por imagem , Costelas/patologia , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/patologia , Tomografia Computadorizada por Raios X , AdultoRESUMO
INTRODUCTION: Fibrous dysplasia is a disorder in which normal bone is gradually replaced by immature fibro-osseous tissue, with an incidence of less than 7% of all benign bone tumors. The management of this disease is a challenge for plastic surgeons and neurosurgeons. GOAL: To describe the diagnostic, therapeutic, and outcome approach of patients with craniofacial fibrous dysplasia seen at the Plastic Surgery Service of the Hospital San José in Bogotá, Colombia. METHODS: This is a descriptive and retrospective case series study of patients diagnosed with monostotic and polyostotic fibrous dysplasia treated at the Plastic Surgery Department of Hospital San José during the period from January 1, 2010, to July 31, 2023. RESULTS: All (n=10) of the patients had monostotic craniofacial fibrous dysplasia. The most affected bones in patients with monostotic fibrous dysplasia were zone I bones (n=10, 100%), followed by zone II bones (n=2, 20%). Patients with zone I and II involvement manifested throbbing headaches associated with phosphenes and tinnitus (n=8, 80%) and pain during occlusion associated with edema in the affected cheek (n=5, 50%). Physical examination showed that patients with orbital wall involvement (zone I bone) had ocular dystopia (n=7, 70%).Regarding the treatment received by the patients, 90% (n=9) of the patients received surgical management as primary treatment, with orbitotomy, replacement, and/or remodeling of the roof and lateral wall of the orbit with bone graft, drilling, canthoplasty, ciliary suspension being the most frequently performed procedure (n=6, 60%). Of the patients, 20% (n=2) required reintervention. CONCLUSIONS: FD is a slowly progressive benign fibro-osseous disease that requires a timely, individualized, and multidisciplinary diagnosis and treatment to obtain favorable clinical and surgical results.The mainstay of treatment is surgery as a preventive measure since it is important to avoid future functional alterations that, depending on the location of the dysplasia, would cause a high risk of alteration of adjacent structures.
Assuntos
Displasia Fibrosa Craniofacial , Humanos , Colômbia , Masculino , Feminino , Estudos Retrospectivos , Adolescente , Adulto , Criança , Displasia Fibrosa Craniofacial/cirurgia , Resultado do Tratamento , Procedimentos de Cirurgia Plástica/métodos , Displasia Fibrosa Monostótica/cirurgia , Displasia Fibrosa Poliostótica/cirurgia , Adulto Jovem , Pessoa de Meia-IdadeRESUMO
PURPOSE: The purpose of this study was to characterize the phenotype associated with a de novo gain-of-function variant in the GUCY1A2 gene. METHODS: An individual carrying the de novo heterozygous variant c.1458G>T p.(E486D) in GUCY1A2 was identified by exome sequencing. The effect of the corresponding enzyme variant α2E486D/ß1 was evaluated using concentration-response measurements with wild-type enzyme and the variant in cytosolic fractions of HEK293 cells, UV-vis absorbance spectra of the corresponding purified enzymes, and examination of overexpressed fluorescent protein-tagged constructs by confocal laser scanning microscopy. RESULTS: The patient presented with precocious peripheral puberty resembling the autonomous ovarian puberty seen in McCune-Albright syndrome. Additionally, the patient displayed severe intellectual disability. In vitro activity assays revealed an increased nitric oxide affinity for the mutant enzyme. The response to carbon monoxide was unchanged, while thermostability was decreased compared to wild type. Heme content, susceptibility to oxidation, and subcellular localization upon overexpression were unchanged. CONCLUSION: Our data define a syndromic autonomous ovarian puberty likely due to the activating allele p.(E486D) in GUCY1A2 leading to an increase in cGMP. The overlap with the ovarian symptoms of McCune-Albright syndrome suggests an impact of this cGMP increase on the cAMP pathway in the ovary. Additional cases will be needed to ensure a causal link.
Assuntos
Displasia Fibrosa Poliostótica , Puberdade Precoce , Feminino , Humanos , Displasia Fibrosa Poliostótica/diagnóstico , Mutação com Ganho de Função , Células HEK293 , Ovário , Puberdade Precoce/etiologiaAssuntos
Displasia Fibrosa Poliostótica , Humanos , Displasia Fibrosa Poliostótica/diagnóstico , Displasia Fibrosa Poliostótica/diagnóstico por imagem , Displasia Fibrosa Poliostótica/complicações , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/complicações , Feminino , MasculinoRESUMO
BACKGROUND: The lack of effective understanding of the pain mechanism of McCune-Albright syndrome (MAS) has made the treatment of pain in this disease a difficult clinical challenge, and new therapeutic targets are urgently needed to address this dilemma. OBJECTIVE: This paper summarizes the novel mechanisms, targets, and treatments that may produce pain in MAS and fibrous dysplasia (polyfibrous dysplasia, or FD). METHODS: We conducted a systematic search in the PubMed database, Web of Science, China Knowledge Network (CNKI) with the following keywords: "McCune-Albright syndrome (MAS); polyfibrous dysplasia (FD); bone pain; bone remodeling; G protein coupled receptors; GDNF family receptors; purinergic receptors and glycogen synthase kinase", as well as other keywords were systematically searched. Papers published between January 2018 and May 2023 were selected for finding. Initial screening was performed by reading the titles and abstracts, and available literature was screened against the inclusion and exclusion criteria. RESULTS: In this review, we systematically analyzed the cutting-edge advances in this disease, synthesized the findings, and discussed the differences. With regard to the complete mechanistic understanding of the pain condition in FD/MAS, in particular, we collated new findings on new pathways, neurotrophic factor receptors, purinergic receptors, interferon-stimulating factors, potassium channels, protein kinases, and corresponding hormonal modulation and their respective strengths and weaknesses. CONCLUSION: This paper focuses on basic research to explore FD/MAS pain mechanisms. New nonneuronal and molecular mechanisms, mechanically loaded responsive neurons, and new targets for potential clinical interventions are future research directions, and a large number of animal experiments, tissue engineering techniques, and clinical trials are still needed to verify the effectiveness of the targets in the future.
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Displasia Fibrosa Poliostótica , Dor , Humanos , Displasia Fibrosa Poliostótica/complicações , Dor/etiologia , Animais , Remodelação Óssea/fisiologia , Receptores Purinérgicos/metabolismo , Receptores Acoplados a Proteínas G/metabolismoRESUMO
BACKGROUND: Reducing delayed diagnosis is a significant healthcare priority for individuals with rare diseases. Fibrous Dysplasia/ McCune Albright Syndrome (FD/MAS) is a rare bone disease caused by somatic activation mutations of NASA. FD/MAS has a broad clinical phenotype reflecting variable involvement of bone, endocrine and other tissues, distribution and severity. The variable phenotype is likely to prolong the diagnostic journey for patients further. AIM: To describe the time from symptom onset to final diagnosis in individuals living with FDMAS. METHODS: We used the UK-based RUDY research database ( www.rudystudy.org ), where patients self-report their diagnosis of FD/MAS. Participants are invited to complete the diagnostic journey based on the EPIRARE criteria. RESULTS: 51 individuals diagnosed with FD/MAS were included in this analysis. Among them, 70% were female, and the median age was 51.0 years (IQR 34.5-57.5]. 12 (35%) individuals reported McCune Albright Syndrome, 11 (21.6%) craniofacial and 11(21.6%) for each of poly- and mono-ostotic FD and 6 (11.8%) did not know their type of FD/MAS. Pain was the commonest first symptom (58.8%), and 47.1% received another diagnosis before the diagnosis of FD/MAS. The median time to final diagnosis from the first symptom was two years with a wide IQR (1,18) and range (0-59 years). Only 12 (23.5%) of individuals were diagnosed within 12 months of their first symptoms. The type of FD/MAS was not associated with the reported time to diagnosis. Significant independent predictors of longer time to final diagnosis included older current age, younger age at first symptom and diagnosis after 2010. CONCLUSION: Individuals with FDMAS have a variable time to diagnosis that can span decades. This study highlights the need for further research on how to improve diagnostic pathways within Orthopaedic and Ear, Nose and Throat (ENT)/Maxillofacial services. Our data provides a baseline to assess the impact of novel NHS diagnostic networks on reducing the diagnostic odyssey.
Assuntos
Displasia Fibrosa Óssea , Displasia Fibrosa Poliostótica , Humanos , Feminino , Pessoa de Meia-Idade , Masculino , Displasia Fibrosa Poliostótica/diagnóstico , Displasia Fibrosa Óssea/diagnóstico , FenótipoRESUMO
McCune-Albright syndrome is a rare chimeric disorder due to mutations in the postzygotic GNAS gene. It belongs to the group of guanine nucleotide-binding protein diseases, affecting a wide range of individuals. It is characterized by fibrous dysplasia, café-au-lait skin macules, and precocious puberty with other variable clinical manifestations. At present, there are difficulties in the molecular diagnosis of McCune-Albright syndrome, and there is a lack of effective clinical treatments to halt or reverse the course and regression of the disease. This article summarizes the clinical manifestations, diagnosis, pathogenic molecular mechanisms, treatment and relevant fertility guidelines of McCune-Albright syndrome, with a view to further research and therapy of McCune-Albright syndrome.
Assuntos
Displasia Fibrosa Poliostótica , Puberdade Precoce , Humanos , Displasia Fibrosa Poliostótica/diagnóstico , Displasia Fibrosa Poliostótica/genética , Displasia Fibrosa Poliostótica/terapia , Mutação , Puberdade Precoce/diagnóstico , Puberdade Precoce/terapia , Manchas Café com Leite/diagnóstico , Manchas Café com Leite/genética , Manchas Café com Leite/terapiaRESUMO
GNAS-activating somatic mutations give rise to Fibrous Dysplasia/McCune-Albright syndrome (FD/MAS). The low specificity of extra-skeletal signs of MAS and the mosaic status of the mutations generate some difficulties for a proper diagnosis. We studied the clinical and molecular statuses of 40 patients referred with a clinical suspicion of FD/MAS to provide some clues. GNAS was sequenced using both Sanger and Next-Generation Sequencing (NGS). We were able to identify the pathogenic variants in 25% of the patients. Most of them were identified in the affected tissue, but not in blood. Additionally, NGS demonstrated the ability to detect more patients with mosaicism (8/34) than Sanger sequencing (4/39). Even if in some cases, the clinical information was not complete, we confirmed that, as in previous works, when the patients were young children with a single manifestation, such as hyperpigmented skin macules or precocious puberty, the molecular diagnosis was usually negative. In conclusion, as FD/MAS is caused by mosaic variants, it is essential to use sensitive techniques that allow for the detection of low percentages and to choose the right tissue to study. When not possible, and due to the low positive genetic rate, patients with FD/MAS should only be genetically tested when the clinical diagnosis is really uncertain.
Assuntos
Displasia Fibrosa Poliostótica , Mosaicismo , Criança , Humanos , Pré-Escolar , Displasia Fibrosa Poliostótica/diagnóstico , Displasia Fibrosa Poliostótica/genética , Mutação , Sequenciamento de Nucleotídeos em Larga Escala , PeleRESUMO
CONTEXT: Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare genetic disorder. Incidence and prevalence are not well-studied. Epidemiological research is complicated by the rarity of FD/MAS, absence of registries, heterogeneous presentation, and possibly asymptomatic phenotype. FD/MAS may present with FGF23-mediated hypophosphatemia, of which the epidemiology is also unclear. OBJECTIVE: Evaluate incidence and prevalence of FD/MAS and FD/MAS-related hypophosphatemia. METHODS: This cohort study based on the nationwide Danish National Patient Registry from 1995-2018, included patients identified by ICD-10 codes M85.0 (monostotic FD [MFD]) and Q78.1 (polyostotic FD [PFD]/MAS). Incidence rates and prevalence were calculated and stratified by sex, age, calendar period, and diagnosis code. Cases were screened for FD-associated hypophosphatemia by diagnosis code E.83 (disorder of mineral metabolism) and dispatched vitamin D analogues. RESULTS: A total of 408 patients were identified, 269 with MFD (66%), 139 with PFD/MAS (34%), comparable between sexes. Incidence of FD/MAS demonstrated increasing secular trend with a rate of 3.6 per 1 000 000 person-years (95% CI: 2.9, 4.5) in 2015-2018. Incidence peaked between age 11 and 20. Prevalence of FD/MAS increased over time to 61.0 (95% CI: 54.6, 67.4) per 1 000 000 persons in 2018. The incidence rate of MFD was 1.5-fold that of PFD/MAS in the first decade, rising to 2.5-fold in the last decade. No FD/MAS cases were registered with diagnosis code or treatment for hypophosphatemia. CONCLUSION: FD/MAS is rare, diagnosis peaks during adolescence without sex predominance, and MFD is most prevalent. Hypophosphatemia may be underdiagnosed and undertreated, or it may be underregistered, comparing this study to literature.
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Displasia Fibrosa Poliostótica , Sistema de Registros , Humanos , Dinamarca/epidemiologia , Masculino , Feminino , Sistema de Registros/estatística & dados numéricos , Prevalência , Incidência , Adolescente , Adulto , Displasia Fibrosa Poliostótica/epidemiologia , Criança , Adulto Jovem , Pessoa de Meia-Idade , Pré-Escolar , Lactente , Fator de Crescimento de Fibroblastos 23 , Hipofosfatemia/epidemiologia , Idoso , Estudos de CoortesRESUMO
OBJECTIVE: Peripheral precocious puberty (PPP) is the precocious development of secondary sexual characteristics without pulsatile gonadotropin-releasing hormone (GnRH) secretion. In girls, PPP suggests a hyper-oestrogenic state, such as autonomous ovarian cysts and McCune-Albright syndrome (MAS). We aimed to investigate PPP in girls with ovarian cysts, with or without MAS. DESIGN: A retrospective study design was used. PATIENTS AND MEASUREMENTS: The study included 12 girls diagnosed with ovarian cysts with PPP between January 2003 and May 2022. Pelvic sonography was performed in cases of vaginal bleeding or areolar pigmentation in PPP. The clinical characteristics, clinical course and pelvic sonographic findings of girls with ovarian cysts were investigated. RESULTS: We found 18 episodes of ovarian cysts in the 12 girls. The median size of the ovarian cysts was 27.5 mm. Five of the girls were diagnosed with MAS. The median time to spontaneous regression was 6 months. Later, 4 out of 12 girls progressed to central precocious puberty (CPP), and three of them had a recurrence of ovarian cysts. Compared to the non-recurrent and recurrent groups, there was a difference in peak luteinizing hormone (LH) in the GnRH stimulation test and period to cyst regression. CONCLUSIONS: Most ovarian cysts in PPP spontaneously disappear. However, this could be one of the findings of MAS. Some girls progress from PPP to CPP. Therefore, follow-up is necessary for ovarian cysts in patients with PPP. The recurrence of ovarian cysts may occur when spontaneous regression is prolonged.
Assuntos
Displasia Fibrosa Poliostótica , Cistos Ovarianos , Puberdade Precoce , Feminino , Humanos , Puberdade Precoce/diagnóstico , Estudos Retrospectivos , Remissão Espontânea , Cistos Ovarianos/complicações , Cistos Ovarianos/diagnóstico , Hormônio Liberador de Gonadotropina , Displasia Fibrosa Poliostótica/complicações , Hormônio FoliculoestimulanteRESUMO
CONTEXT: Pain is a poorly managed aspect in fibrous dysplasia/McCune-Albright syndrome (FD/MAS) because of uncertainties regarding the clinical, behavioral, and neurobiological underpinnings that contribute to pain in these patients. OBJECTIVE: Identify neuropsychological and neurobiological factors associated with pain severity in FD/MAS. DESIGN: Prospective, single-site study. PATIENTS: Twenty patients with FD/MAS and 16 age-sex matched healthy controls. INTERVENTION: Assessments of pain severity, neuropathic pain, pain catastrophizing (pain rumination, magnification, and helplessness), emotional health, and pain sensitivity with thermal quantitative sensory testing. Central nervous system (CNS) properties were measured with diffusion tensor imaging, structural magnetic resonance imaging, and functional magnetic resonance imaging. MAIN OUTCOME MEASURES: Questionnaire responses, detection thresholds and tolerances to thermal stimuli, and structural and functional CNS properties. RESULTS: Pain severity in patients with FD/MAS was associated with more neuropathic pain quality, higher levels of pain catastrophizing, and depression. Quantitative sensory testing revealed normal detection of nonnoxious stimuli in patients. Individuals with FD/MAS had higher pain tolerances relative to healthy controls. From neuroimaging studies, greater pain severity, neuropathic pain quality, and psychological status of the patient were associated with reduced structural integrity of white matter pathways (superior thalamic radiation and uncinate fasciculus), reduced gray matter thickness (pre-/paracentral gyri), and heightened responses to pain (precentral, temporal, and frontal gyri). Thus, properties of CNS circuits involved in processing sensorimotor and emotional aspects of pain were altered in FD/MAS. CONCLUSION: These results offer insights into pain mechanisms in FD/MAS, while providing a basis for implementation of comprehensive pain management treatment approaches that addresses neuropsychological aspects of pain.
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Displasia Fibrosa Óssea , Displasia Fibrosa Poliostótica , Neuralgia , Humanos , Displasia Fibrosa Poliostótica/patologia , Imagem de Tensor de Difusão , Estudos Prospectivos , Displasia Fibrosa Óssea/patologia , Neuralgia/diagnóstico , Neuralgia/etiologiaAssuntos
Anestésicos , Displasia Fibrosa Poliostótica , Humanos , Feminino , Gravidez , Cesárea , MutaçãoRESUMO
BACKGROUND: McCune-Albright syndrome is a rare disorder characterized by polyostotic fibrous dysplasia (FD), café-au-lait skin pigmentation, and endocrine dysfunction. Extensive FD in the craniofacial region can present significant challenges in terms of disease control and carries a high risk of permanent visual impairment. METHODS: We present a case of medically and surgically resistant FD that required nine optic nerve decompressions. RESULTS: The condition was ultimately controlled with the use of the denosumab agent. CONCLUSION: The case highlights the importance and potential efficacy of denosumab in resistant FD management, particularly in cases involving sensitive organs.
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Displasia Fibrosa Craniofacial , Displasia Fibrosa Poliostótica , Humanos , Osso e Ossos , Displasia Fibrosa Craniofacial/tratamento farmacológico , Descompressão Cirúrgica , Denosumab , Displasia Fibrosa Poliostótica/diagnóstico por imagem , Displasia Fibrosa Poliostótica/tratamento farmacológico , Displasia Fibrosa Poliostótica/cirurgia , Ligante RANK/antagonistas & inibidoresRESUMO
ABSTRACT: Fibrous dysplasia (FD) typically presents unilaterally in the lower limbs, or in the skull, mandible, or pelvis. Bilateral presentation is rarely reported. Most cases are diagnosed in the teens with 75% of patients diagnosed before the age of 30 years. In this case, a 63-year-old woman with suspected diagnosis of malignancy was referred to 99mTc-MDP scan and found to have polyostotic FD in bilateral upper extremities. Nuclear medicine can play an important role in diagnosing FD cases with atypical presentation and help risk stratification for more aggressive transformation.
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Displasia Fibrosa Óssea , Displasia Fibrosa Poliostótica , Feminino , Humanos , Pessoa de Meia-Idade , Displasia Fibrosa Poliostótica/diagnóstico por imagem , Cintilografia , Crânio , Medronato de Tecnécio Tc 99mRESUMO
McCune-Albright syndrome is an inherited disease characterized by the association of fibrous dystrophy of bone, café-au-lait skin spots and precocious puberty revealing endocrine hyperactivity. Genetically, this disease is due to a mutation of the Gs protein responsible for activation of adenylate cyclase with excessive production of cAMP. The particular morphology of café-au-lait spots should suggest early diagnosis. Its treatment depends on the endocrinopathy from which the patient suffers and the extent of the fibrous dysplasia. Bisphosphonates have proven their effectiveness on bone pain and the limitation of fibrous dysplasia. Surgery retains its place in complicated forms. We report a rare case of McCune-Albright syndrome complicated by a femur fracture in a 12-year-old girl and we discuss the clinical and paraclinical characteristics of this pathological entity.
Assuntos
Displasia Fibrosa Óssea , Displasia Fibrosa Poliostótica , Puberdade Precoce , Feminino , Humanos , Criança , Displasia Fibrosa Poliostótica/diagnóstico , Puberdade Precoce/diagnóstico , Puberdade Precoce/etiologia , Manchas Café com Leite/etiologia , Manchas Café com Leite/complicações , MutaçãoRESUMO
BACKGROUND: Henry IV King of Castile, last king of the Trastámara dynasty, was the brother of Isabella the Catholic. He is known as "the impotent". Based on previous descriptions by historians and biographers, Gregorio Marañón in 1922 described him as "eunuchoid dysplastic with acromegalic reaction and clear schizoid features". METHODS: In 1946, a post-mortem inspection was carried out on the mummified corpse found in the Monastery of Guadalupe. A written document and some photographs were recorded. We have collected the signs and symptoms described and applied the international classification of diseases recommended by the World Health Organisation, ICD11-2023. We have relied on the coins issued in the money of Henry IV, on which we have identified enlargement of the thyroid gland. RESULTS: With the data available at this time, we suggest that Henry IV most probably suffered from: facial and polyostotic bone dysplasia, kyphosis, limb limping, multiple endocrine disorders, acromegaly with macrognatia, nodular thyroid disease, malodorous diaphoresis, erectile dysfunction, hypospadias, abnormal sexual development, "feminoid pelvis", abdominal colic, oligodontia and dental displacement. It is possible that he also suffered from: precocious puberty, renal lithiasis with debilitating phosphaturia, carpal tunnel, thrombopenia and growth hormone-producing pituitary hyperplasia or adenoma. CONCLUSION: We suggest that Henry IV may have suffered from McCune-Albrigth syndrome associated with fibrous dysplasia, a rare disease due to gain-of-function mutations in the GNAS gene.