[Hyperostosis frontalis interna : etiology and differential diagnosis]. / Hyperostose frontale interne : étiologie et diagnostic différentiel.

Hyperostosis frontalis interna was first described in 1719 in association with obesity and hirsutism, forming Morgagni's syndrome. A high prevalence and a lack of studies demonstrating a strong correlation between these different signs currently question the existence of such a syndrome. Hyperostosis frontalis interna predominates in women. The anomaly exclusively involves the inner table and constantly spares the diploe and the external table. The main differential diagnosis of cranial hyperostosis is made between meningioma, osteoma, Paget's disease and fibrous dysplasia. The clinical implication of hyperostosis as well as its etiology are also debated.

L'hyperostose frontale interne a initialement été décrite en 1719, en association avec une obésité et de l'hirsutisme, formant ainsi le syndrome de Morgagni. Une prévalence élevée et un manque d'études confirmant une corrélation entre ces différents signes remettent actuellement en doute l'existence de ce syndrome. L'hyperostose frontale interne prédomine largement chez la femme. L'affection concerne exclusivement la table interne et épargne constamment le diploé et la table externe. Le diagnostic différentiel principal des hyperostoses crâniennes s'établit entre le méningiome, l'ostéome, la maladie de Paget et la dysplasie fibreuse. L'implication clinique de l'hyperostose ainsi que son étiologie sont également débattues.

Hyperostosis Frontalis Interna and a Question on Its Pathology: A Case Report.

BACKGROUND Hyperostosis frontalis interna is a boney overgrowth of the inner side of the frontal bone of the skull caused by overgrowth of the endocranial surface. It is most often found in women after menopause. It is also associated with hormonal imbalance, being overweight, history of headaches, and neurocognitive degenerative conditions. Female gender, advanced age, extended estrogen stimulation, and elevated leptin levels may also play a role. The thickening is usually confined to the frontal bone, but it can spread as far as the anterior parietal and temporal bones. CASE REPORT During a medical school dissection course, an extensive boney overgrowth in the frontal regions covering the inside of the frontal bone of the skull of a 90-year-old female donor, who died of a cerebrovascular infarction, was identified. This boney overgrowth was mainly confined within the frontal region, but there was some boney overgrowth that extended to the temporal bones. The overgrowth in the endocranium of the temporal bone was not as severe as the overgrowth of the frontal bone. The morphology of the overgrowth was rigid, uneven, and bumpy. Based upon the physical characteristics, we concluded that this presentation was consistent with hyperostosis frontalis interna. CONCLUSIONS Our female donor was found to exhibit a phenomenon which could be clinically underdiagnosed due to its internal nature and asymptomatic presentation. Insight into the potential causes of HFI and its identification during clinical evaluation offers a path for future research to better identify and manage cases of HFI.

Uremic Leontiasis Ossea: Theoretical Concepts and Practical Considerations.

Leontiasis ossea (LO) in chronic kidney disease patients, also known as Sagliker syndrome, is an exceptionally uncommon uremic complication of long-lasting and severe secondary hyperparathyroidism. The prominent features of uremic LO (ULO) encompass the characteristic clinical trial of massive thickening of maxillary and mandibular bones, widening of interdental spaces, and flattening of nasal bridges and nares. Moreover, during the transformation of craniofacial architecture, significant structural and functional consequences may appear, including upper airway patency, visual and hearing acuity, oral phase of swallowing as well as various neurological and psychiatric disorders. Only few cases of ULO have been reported in the literature until now, making challenging not only the traditional diagnostic procedures but also the optimal therapeutic approach. In this narrative review, we aim to explore the underlying pathophysiological mechanisms, summarize the evidence for adverse outcomes, and highlight the current therapeutic strategies for ULO prevention and treatment, given that precise genetic determinants remain elusive.

Uremic lion face syndrome / Face Leonina na Síndrome Urêmica

Abstract Mineral bone disorder is a common feature of chronic kidney disease. Lion face syndrome is rare complication of severe hyperparathyroidism in end-stage renal disease patients, which has been less commonly reported due to dialysis and medical treatment advances in the last decade. The early recognition of the characteristic facial deformity is crucial to prompt management and prevent severe disfigurement. The authors present a rare case of severe hyperparathyroidism presenting with lion face syndrome and bone fractures.

Resumo O distúrbio mineral e ósseo é uma característica comum da doença renal crônica. A síndrome da face leonina é uma complicação rara do hiperparatireoidismo grave em pacientes com doença renal terminal, que tem sido menos relatada devido aos avanços na diálise e tratamento médico na última década. O reconhecimento precoce da deformidade facial característica é crucial para estimular o tratamento precoce e prevenir a desfiguração severa. Os autores apresentam um caso raro de hiperparatireoidismo grave, apresentando síndrome da face leonina e fraturas ósseas.

Uremic lion face syndrome.

Mineral bone disorder is a common feature of chronic kidney disease. Lion face syndrome is rare complication of severe hyperparathyroidism in end-stage renal disease patients, which has been less commonly reported due to dialysis and medical treatment advances in the last decade. The early recognition of the characteristic facial deformity is crucial to prompt management and prevent severe disfigurement. The authors present a rare case of severe hyperparathyroidism presenting with lion face syndrome and bone fractures.

[Morgagni-Stewart-Morel syndrome. Case report and review of the literature]. / Síndrome de Morgagni-Stewart-Morel. Reporte de caso y revisión de la literatura.

BACKGROUND: Hyperostosis frontalis interna (HFI) is a bone overgrowth on the inside of the frontal bone. This alteration can occur in isolation or together with neuropsychiatric symptoms, metabolic and endocrine manifestations which together form the Morgagni-Stewart-Morel syndrome. In this regard, the case of a patient who meets criteria for this syndrome is presented and a review of the literature is performed with focus on its pathophysiology. CLINICAL CASE: A 74 years old female with a history of exposure to wood smoke, vitiligo, type 2 diabetes mellitus, hypertension and cognitive impairment who enters the hospital by malaise, dizziness, anxiety, confusion, disorientation and difficulty walking. In she were performed imaging of the skull where was observed the presence of extensive hyperostosis frontalis interna, cortical atrophy and a left thalamic lacunar infarction. During this hospital stay the presence of grade I obesity, hyperglycemia, hypertriglyceridemia and hyperuricemia was documented. CONCLUSIONS: The patient met the criteria of Morgagni-Stewart-Morel syndrome to manifest the presence of hyperostosis frontalis interna with metabolic, endocrine and neuropsychiatric manifestations. The pathophysiological origin of the syndrome is unknown, although it has been postulated that an endocrine imbalance motivated by genetic and environmental factors may be the cause.

Introducción: La hiperostosis frontal interna (HFI) es un sobrecrecimiento óseo en la parte interna del hueso frontal. Dicha alteración puede ocurrir de forma aislada o acompañada de síntomas neuropsiquiátricos, manifestaciones metabólicas y endocrinológicas que en conjunto forman el síndrome de Morgagni-Stewart-Morel. A este respecto, se presenta el caso de una paciente que cumple criterios para tal síndrome y se realiza una revisión de la literatura médica con especial atención en su fisiopatología. Caso clínico: Mujer de 74 años con historia de exposición a humo de leña, vitíligo, diabetes mellitus tipo 2, hipertensión arterial sistémica y deterioro cognitivo, quien ingresa al hospital por malestar general, mareo, ansiedad, confusión, desorientación y dificultad para la marcha. Se realizaron estudios de imagen de cráneo donde se observó la presencia de hiperostosis frontal interna extensa, atrofia cortical y un infarto lacunar talámico izquierdo. Durante su estancia hospitalaria se documentó la presencia de obesidad grado I, hiperglucemia, hipertrigliceridemia e hiperuricemia. Conclusiones: La paciente cumplió con los criterios del síndrome de Morgagni-Stewart-Morel al manifestar la presencia de hiperostosis frontal interna con manifestaciones metabólicas, endocrinológicas y neuropsiquiátricas. El origen fisiopatológico del síndrome se desconoce, aunque se ha postulado que un desbalance endocrinológico motivado por factores genéticos y ambientales puede ser la causa.

Presentación de una paciente con síndrome de Morgagni-Stewart-Morel / Presentation of a Patient with Morgagni-Stewart-Morel Syndrome

El síndrome de Morgagni-Stewart-Morel es una rara enfermedad que se caracteriza por hiperostosis frontal interna bilateral asociada a alteraciones metabólicas, psiquiátricas, hipertensión arterial y disfunción de pares craneales de etiología no definida. Se presentó una paciente femenina de 73 años, hipertensa, diabética, obesa, con trastornos psiquiátricos; padeciendo de cefalea, hiposmia e hipoacusia y se constató tomográficamente el engrosamiento frontal interno en relación con el estadio A de la clasificación de Hershkovitz de dicha enfermedad.(AU)

Morgagni-Stewart-Morel Syndrome is a rare disease characterized by bilateral hyperostosis frontalis interna associated to metabolic and psychiatric disorders, with hypertension and cranial nerve dysfunction of undefined etiology. A female patient of 73 years, hypertensive, diabetic, obese, was presented with psychiatric disorders; suffering from headache, hyposmia and hearing loss. In the tomographic study a stage A of Hershkovitz classification of the disease was found

Hiperostosis frontal interna y meningiomas múltiples como hallazgos autópsicos incidentales. Aportación de un caso y revisión de la literatura / Hyperostosis frontalis interna and multiple meningiomas as incidental autopsy findings. A case report and review of the literature

La hiperostosis frontal interna es una entidad caracterizada por un engrosamiento óseo desmesurado de la tabla interna del hueso frontal, de carácter benigno. A pesar de que fue ampliamente discutida en el pasado, esta entidad rara vez se menciona en la literatura patológica actual. Afecta predominantemente a mujeres posmenopáusicas y suele ser un hallazgo casual durante la realización de pruebas de imagen o de autopsias. Aunque fue descrita hace más 300 años, su prevalencia se ha visto incrementada desde finales del siglo XX, indicando un cambio profundo en la fertilidad humana con la introducción de tratamientos hormonales y nuevos hábitos alimentarios. Presentamos un caso de hiperostosis frontal interna y meningiomas múltiples en una mujer posmenopáusica pluripatológica, que se consideraron hallazgos autópsicos incidentales no relacionados con la causa de su muerte (AU)

Hyperostosis frontalis interna is a benign condition characterized by excessive bone thickening of the inner table of the frontal bone. Although it was widely discussed in the past, this entity is now rarely mentioned in the literature. It predominantly affects postmenopausal women and is usually an incidental finding during testing imaging or autopsy. It was described three centuries ago but since the late 20th century it has been more frequent, reflecting a profound change in life style, especially with regards to fertility and the introduction of hormonal treatments, as well as new eating habits. We present a case of hyperostosis frontalis interna and multiple meningiomas, incidental autopsy findings in a postmenopausal woman with multiple disease, and unrelated to the cause of death (AU)

Severe maxillofacial renal osteodystrophy in two patients with chronic kidney disease.

Renal osteodystrophy (ROD) is the bone pathology that occurs as an uncommon complication related to the several alterations in mineral metabolism present in patients with chronic kidney disease (CKD). This paper describes two cases of severe ROD affecting the maxilla and mandible and causing facial disfigurement of a young and a middle-aged female patient with CKD. Both patients had a history of secondary hyperparathyroidism, previously treated by surgery. The pathogenesis of the disease, as well as its clinical, imaging, and histopathological features, and management of the patient are discussed.

Uremic leontiasis ossea.

Uremic leontiasis ossea is a rare manifestation of renal osteodystrophy clinically characterized by jaw enlargement, widening of the nares, flattening of the nasal bridge, and increased interdental spacing. Computed tomography (CT) findings are particular characteristic and include serpiginous tunneling within the maxillofacial bones and cortical bone resorption. Nuclear medicine scans are also useful for demonstrating hyperplasia of the parathyroid glands. Ultimately, the diagnosis of uremic leontiasis ossea can be made non-invasively through a combination of clinical parameters and imaging findings, as described in this article.

Neuropsychological profile of a male psychiatric patient with a Morgagni-Stewart-Morel syndrome.

In 1765 Giovanni Morgagni described a syndrome consisting of hyperostosis frontalis interna (HFI), obesity and hirsutism. In 1928 Stewart and in 1930 Morel added neuropsychiatric symptoms, e.g. depression and dementia, which led to the definition of the Morgagni-Stewart-Morel Syndrome (MSM). Although mostly women were characterized in literature no gender specifity is demanded. This case report presents the rare case of a 66 year old male psychiatric patient with Morgagni-Stewart-Morel Syndrome. The patient complained of loss of concentration and difficulties with activities of daily living. Admission diagnosis was an opioid misuse on the basis of a chronic pain syndrome. In this case report we are describing clinical features, the patient history and technical (MRI) and neuropsychological tests. Although severe psychiatric symptoms and neuropsychological deficits are commonly seen in these patients, our patient showed only mild symptoms. This case reports shows the possibility of a male patient with MSM. If MSM is a separate entity or just an epiphenomena of hormone dysregulation should be investigated in further studies.

Computed tomography and magnetic resonance imaging of maxillofacial lesions in renal osteodystrophy.

PURPOSE: This study aims to describe the computed tomography (CT) and magnetic resonance (MR) imaging appearance of maxillofacial lesions in renal osteodystrophy. PATIENTS AND METHODS: We retrospectively reviewed the CT and MR imaging of maxillofacial region in 9 patients (6 females and 3 males with mean age of 31 yr) with renal osteodystrophy. They presented with facial swelling (n = 6), facial disfigurement (n = 2), and oral cavity mass (n = 1). They underwent CT and MR imaging of the maxillofacial region. RESULTS: Brown tumors (n = 6) were seen in the mandible (n = 4) and maxilla (n = 2). They appeared as mixed lytic and sclerotic (n = 4) and sclerotic (n = 2) lesions at CT. The lesions appeared as hypointense at T1-weighted images and of mixed signal intensity at T2-weighted images with intense contrast enhancement (n = 6). Uremic leontiasis ossea (n = 2) appeared at CT as diffuse hyperostosis with protruded maxilla and obliterated sinus. At MR imaging, there was expansion of the maxilla with obliteration of the maxillary sinuses and protrusion of the mandible. The lesion exhibited low signal intensity at T1-weighed images. At T2-weighted images, the lesion showed low signal intensity with small hyperintense lesions. Dystrophic calcification (n = 2) was seen in the parotid and the check. CONCLUSION: We concluded that CT and MR imaging are helpful for diagnosis and treatment planning of maxillofacial lesions of patients with renal osteodystrophy.