Analysis of palatal marginal alveolar exostosis and palatal torus using cone-beam computed tomography.

The aim of the present study was to analyze palatal marginal alveolar exostosis (PMAE) and palatal torus (PT). Cone-beam computed tomography (CBCT) of the maxilla in multiplanar sections and volumetric renderings were used to assess this. PT and PMAE were classified according to location and morphology. Height, width, length, and thickness of the overlying mucosa were determined. The prevalence of PT and PMAE was assessed according to sex and age group. The correlation between the occurrence of PMAE and PT was also evaluated. A total of 385 CBCT scans were examined. PT was found in 38.70% of the sample and located more frequently in the middle third of the maxilla (52.35%) with a flat shape (42.95%). PMAE was found in 54.80% of the sample, bilaterally in 56.40% of the cases, and located more frequently in the molar region (62.42%) in the form of small nodules (36.97%). The mucosa covering PMAE was generally thicker than that over PT. The use of CBCT for the identification of PT and PMAE in vivo showed high frequencies of both conditions. The occurrence of PMAE was independent of the presence of PT.

[Traumatic injuries in ankylosing spinal diseases]. / Traumatische Verletzungen der ankylosierenden Wirbelsäule.

Ankylosing spinal diseases, such as ankylosing spondylitis (AS) and diffuse idiopathic skeletal hyperostosis (DISH), are highly important in spinal traumatology and are therefore specifically considered in the AO Spine Classification of spinal injuries. These diseases make the spine extremely susceptible to injury and also complicate the diagnosis and treatment, leading to an increased mortality. Concomitant neurological injuries are frequent. The treatment of such injuries requires great attention and careful preparation. Early and precise diagnostics using computed tomography (CT) and magnetic resonance imaging (MRI) as well as a surgical intervention are crucial for the survival and the quality of life of patients. The treatment is carried out surgically as conservative treatment often leads to high complication rates. In postoperative care special attention must be paid to cardiopulmonary complications.

How Does Social Inequality Alter Relationships Between Porous Cranial Lesions and Mortality? Examining the Relationship Between Skeletal Indicators of Stress, Socioeconomic Status, and Survivorship in a Pediatric Autopsy Sample.

BACKGROUND: In prior exploration of modern and archeological populations, lower SES has been associated with an increased risk of mortality. However, SES is often difficult to ascertain in archeological populations. Thus, explorations of skeletal lesions and their association with mortality may be subject to confounding factors that alter the strength and/or direction of this association. METHODS: The present study uses data from a modern, documented coronial pediatric dataset to examine the association between porous cranial lesions (PCLs) (cribra orbitalia [CO] and porotic hyperostosis [PH]) and age at death while controlling for SES, as inferred through housing type, with manufactured or apartment housing identified as reflecting individuals from lower SES backgrounds in this context. We include 887 (535 males, 352 females) individuals aged 0.5-20.9 years from New Mexico who died between 2011 and 2022. Kaplan-Meier survival analysis was used to assess survivorship as related to PCLs and SES. RESULTS: Low SES is associated with lower survivorship. CO does not have a significant association with age at death when not controlling for SES; PH alone is associated with older age at death. Disadvantaged individuals with PCLs have significantly reduced survivorship than those with higher SES. DISCUSSION AND CONCLUSIONS: The findings of this study demonstrate that low SES results in reduced survivorship, and those with low SES and PCLs have worse survivorship than less disadvantaged individuals with PCLs. Thus, the strong contribution of SES to mortality necessitates the consideration of the sociocultural context as a confounding factor when examining associations between variables of interest (such as lesions) and mortality in both past and present populations.

Inferior Glenoid HyperOSTosis (GHOST) Lesion Development Following Reverse Total Shoulder Arthroplasty.

BACKGROUND: Patients undergoing reverse shoulder arthroplasty (RTSA) have been noted on postoperative radiographs to have a curved bony overgrowth on the inferior glenoid neck. This study aims to investigate potential risk factors for and postoperative effects of these ossifications, here called glenoid hyperostosis (GHOST) lesions due to their location. METHODS: A retrospective review of patients undergoing reverse total shoulder arthroplasty between 2007 and 2020 at a single institution was performed. Predictors including gender, age, implant sizing, and preoperative diagnosis were examined using logistic regression analysis. Outcomes including readmission rate, revision rate, preoperative and postoperative range of motion, visual analog scale (VAS) pain scores, and American Shoulder and Elbow Surgeons (ASES) functional outcome scores were also analyzed using two-sample t-tests. RESULTS: Preoperative and postoperative radiographs of 170 primary reverse shoulder arthroplasty patients were assessed. 25.9% of RTSAs were identified to have a GHOST lesion. When adjusting for race, age, BMI, preoperative diagnosis, male patients were still associated with 2.28 odds of developing a GHOST lesion compared to female patients (95% CI: 1.08 - 4.86). Other elements such as age, race, BMI, laterality, preoperative diagnosis, implant manufacturer, and implant sizing demonstrated no statistically significant association to GHOST lesion presence. Postoperatively, GHOST lesion development was not associated with range of motion or ASES score. However, presence of GHOST lesions on radiographs was associated with increased pain scores for patients at 2 months (p = 0.034) and 12 months (p = 0.029) postoperatively. DISCUSSION: Inferior glenoid hyperostosis (GHOST) lesions is a common and potentially benign finding following reverse shoulder arthroplasty, with unclear etiology. Risk factors for GHOST lesions included male gender, while patient demographics, implant type or size, shoulder lateralization and distalization were not associated with lesion formation. Clinically, greater short-term VAS scores were seen in patients with GHOST lesions. However, there were no differences observed between the two groups in ASES scores or postoperative range of motion at later time points. Further research is needed to identify risk factors and assess the clinical implications of GHOST lesions.

Hyperostosis in meningioma: a retrospective exploration of histological correlates.

PURPOSE: Meningiomas are the most common type of primary brain tumour. Hyperostosis is commonly associated but remains incompletely understood. This study aimed to evaluate the relationship between meningioma-associated hyperostosis and other tumour variables. MATERIALS AND METHODS: We retrospectively analysed 245 patients with 263 cranial meningiomas (202 CNS WHO grade 1, 53 grade 2, and 8 grade 3) who underwent surgery over a three-year period. Meningiomas adjacent to the skull were included. Demographic, radiological, and tumour characteristics were analysed using standard statistical methods. RESULTS: Hyperostosis was evident in 99 (38%) of meningiomas. The most common subtypes were meningothelial, transitional, fibrous, atypical, and anaplastic. There were no statistically significant relationships between hyperostosis and bone invasion, and CNS WHO grade and histological subtype. Hyperostosis was more common in skull base meningiomas than in convexity meningiomas (p = 0.001). Ki-67 index was significantly related to CNS WHO grade but not histological subtype when grade was considered. Mean Ki-67 index was higher in meningiomas without hyperostosis (p = 0.03). There was no such relationship with bone invasion (p = 0.29). Univariate and multivariate analysis revealed that Ki-67 index was negatively correlated with hyperostosis (p = 0.03), while bone invasion (p < 0.001) and skull base location (p = 0.03) were positively correlated with hyperostosis. CONCLUSIONS: Hyperostosis did not appear to be related to CNS WHO grade or histological subtype. Proliferative activity appeared to be higher in meningiomas without hyperostosis and hyperostosis was associated with evidence of bone invasion and skull base location.

Dyke-Davidoff-Masson-like syndrome in an adult cat.

Case summary: A 4-year-old cat was presented with acute onset of lateralised neurological central nervous system (CNS) signs and seizures. Haematological and serum biochemical parameters were within normal limits. Imaging diagnostics revealed severe CT and MRI abnormalities of the right brain, similar to Dyke-Davidoff-Masson syndrome (DDMS) in human medicine. This syndrome includes cerebral hemiatrophy with compensatory calvarial hyperostosis and ventriculomegaly. Such changes have previously been reported only once in a single feline case of approximately the same age. In humans, DDMS is described as an embryonic and perinatal developmental disturbance or an acquired injury in early childhood. Relevance and novel information: This case report shows that without further imaging diagnostics, congenital disorders can be overlooked in some rare cases of adult cats with later onset of their first clinical signs.

Impact of extent of resection and adjuvant radiation therapy in the progression free survival in patients with spheno-orbital meningioma.

BACKGROUND: Spheno-orbital meningiomas (SOM) are known to invaded critical skull base areas. The authors report a series of WHO I SOM, propose a subclassification of this tumor according to its extension to critical positions and analyze the impact of extent of resection and the role of stereotactic radiotherapy in tumor recurrence. METHODS: A prospective maintained university medical center registry was utilized to undertake a retrospective review of patients operated with WHO I SOM. Details related to critical skull base region's extension (superior orbital fissure, cavernous sinus, orbital apex), extent of resection and adjuvant radiosurgery were collected. Statistical calculations were preformed using IBM SPSS Statistics version 25. A p value < 0.05 was considered significant. Survival analysis was performed using Kaplan-Meier survival analysis and the log rank test. RESULTS: A total of 77 patients operated from 2002 to 2021 were included. There were 65 women (84.4 %) and 12 men (15.6 %). Mean age at surgery was 54.8 years (median 53 years, range 23 - 88). Tumors were defined as local in 28 (35.4 %) and with extension into the skull base critical structures in 51 (64.6 %). GTR was achieved in 35 (44.3 %), STR in 40 (50.6 %), and PR in four (5.1 %). Surgical morbidity was 10 %. There was no surgical mortality. 28 patients with STR or PR were treated with adjuvant radiotherapy. The total length of follow up was a mean of 172.3 months. There were 14 recurrences/progressive growth (17.7 %), 63 patients (79.7 %) had no recurrence/progressive growth, and two patients (2.5 %) were lost to follow-up. PFS was significant statistically different in patients with invasive tumors in whom the extent of resection was subtotal, with a longer PFS in patients that were treated with adjuvant radiotherapy. (P value < 0.001). CONCLUSIONS: SOM could be divided in two groups according to its skull base extension facilitating decision management and outcome prediction. Patients with local WHO I SOM had higher rate of GTR and better PFS than tumors extending to involve critical regions. When STR or PR is achieved postoperative adjuvant radiotherapy is advised if there is evidence of previous tumor growth.

Clinical and Radiological Identification and Management of SAPHO Syndrome.

Introduction: Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is an autoinflammatory disease whose acronymic name stands for the symptoms commonly seen in the disease. These symptoms typically occur simultaneously, in different combinations, in patients during exacerbations of the disease. SAPHO syndrome is a rare disease, most frequently seen in patients aged 30 to 50. It is estimated to be found in 1 in 10 000 persons in White populations, with an even lower incidence seen in non-White populations. Case Presentation: A post-menopausal woman with a medical history of SAPHO presented to the emergency department with left foot pain and chest pain with palpitation. She had chronic pustular rashes, located on the bilateral soles of the feet, bilateral palms, neck, and abdomen, which she stated appeared hours after the initial presentation of her pain. Chest X-ray readings showed osteitis and sclerosis of the sternocostoclavicular joint and first rib, a radiological finding of SAPHO syndrome. The patient was successfully treated with nonsteroidal anti-inflammatory drugs for pain relief and IV corticosteroids for the rheumatoid-like inflammatory aspect of SAPHO. Conclusion: While SAPHO syndrome is a rare disease, it is important to be aware of its manifestations and symptoms, such as the patient's rash, foot and chest pain, in addition to the dermatological symptoms appearing simultaneously. An early diagnosis can provide patients with accurate and appropriate treatment.

Corrigendum: Evidence for a genetic contribution to the ossification of spinal ligaments in ossification of posterior longitudinal ligament and diffuse idiopathic skeletal hyperostosis: a narrative review.

[This corrects the article DOI: 10.3389/fgene.2022.987867.].

Bilateral Vocal Fold Motion Impairment Associated With Diffuse Idiopathic Skeletal Hyperostosis.

Objective: To describe the clinical courses and interventions of symptomatic patients with bilateral vocal fold motion impairment (BVFMI) attributed to diffuse idiopathic skeletal hyperostosis (DISH). Study Design: Retrospective cohort study. Setting: Single Institution Academic Health Center. Methods: Retrospective chart review of patients ≥18 years old evaluated and treated for symptomatic BVFMI secondary to DISH between February 2021 and March 2023. A literature review was conducted. Results: A total of 4 cases were identified. All patients were male and had symptomatic BVFMI attributed to cervical spine DISH, as seen on imaging. Symptoms ranged from life-threatening dyspnea to breathy dysphonia in addition to dysphagia. Each patient was offered surgery for DISH. Two patients underwent osteophyte removal at the C5-C6 level with improved vocal fold (VF) mobility, breathing, and voice quality. Two patients elected serial observation as voice, swallow, and airway symptoms were manageable. The literature review showed a male-dominant (100%) presentation with an average of 70 years of age. Hypertension (45%) and diabetes mellitus (36%) were the most common comorbidities. Most patients were treated surgically (55%). Conclusion: Both surgical and conservative interventions may be considered for symptomatic relief and improvement in VF mobility on a patient-to-patient basis. Further study is warranted to investigate the etiology and treatment outcomes in these cases.

Clinical presentation and burden of ENPP1 deficiency in adults.

While the clinical consequences of severe ENPP1 deficiency leading to the rare disorders generalized arterial calcification of infancy (GACI) and autosomal recessive hypophosphatemic rickets type 2 (ARHR2) are well defined and understood, much less is known about how this evolves into adulthood and how moderate ENPP1 deficiency can first manifest in adulthood. Moreover, growing evidence substantiates an association of genetic variants in the ENPP1 gene with a wide range of further clinical manifestations including early-onset osteoporosis, osteoarthritis, and different forms of spinal ligament calcifications, i.e., diffuse idiopathic skeletal hyperostosis (DISH) and ossification of the posterior/anterior longitudinal ligament (OPLL/OALL). Furthermore, conditions with primarily extraskeletal signs and symptoms such as Cole disease, coagulopathies, and metabolic syndrome can seemingly result from ENPP1 variants. The causality and the pathophysiology behind these different clinical presentations appear complex and require further research, especially since the coincidence of these different phenotypes is rarely described and available evidence suggests that part of the aforementioned manifestations may result from ENPP1 effects beyond the catalytic activity of processing ATP to AMP and inorganic pyrophosphate (PPi). Growing awareness of the additional ENPP1-related manifestations across the lifespan will advance our understanding of this complex condition and help to standardize diagnostic approaches and develop individually tailored treatment concepts.

Effect of Diffuse Idiopathic Skeletal Hyperostosis on the Occurrence of Thoracolumbar Vertebral Fragility Fractures at Different Ages.

STUDY DESIGN: Retrospective Case control Study. OBJECTIVES: To analyze the effect of diffuse idiopathic skeletal hyperostosis (DISH) on the occurrence of new thoracolumbar vertebral fragility fractures (VFFs) at different ages. METHODS: A retrospective analysis of 564 patients, including 189 patients who presented with new-onset thoracolumbar VFFs and 375 patients without spinal fractures, was performed in 4 age groups (50-59 years, 60-69 years, 70-79 years, and 80+ years). DISH was diagnosed based on computed tomography findings, and the Mata score of each disc space level combined with the maximum number of consecutive ossified segments (MNCOS) for each patient was recorded. Data were compared between the fracture and control groups, and odds ratios (ORs) were calculated for each of the 4 age groups using logistic regression. RESULTS: Both the crude ORs and the adjusted ORs of DISH for VFFs decreased with age, with statistical significance shown in the 50-59 years group (crude OR = 4.373, P = 0.017; adjusted OR = 7.111, P = 0.009) and the 80+ years group (crude OR = 0.462, P = 0.018; adjusted OR = 0.495, P = 0.045). The Mata scores and the MNCOS were significant risk factors for VFFs (P < 0.05) in the 50-59 years group, but they were protective factors in the 80+ years group, which was more significant in the T11/12-L5/S1 subsegment. CONCLUSIONS: The effect of DISH on the occurrence of thoracolumbar VFFs is complex, and in patients above 50 years, it changes from a risk factor to a protective factor with increasing age.

Hiperostosis cortical congénita: una causa infrecuente de llanto inconsolable del lactante. Presentación de caso clínico / Congenital cortical hyperostosis: a rare cause of inconsolable crying in a baby. Clinical case report

Se presenta el caso de un lactante de 2 meses que fue llevado a consulta varias veces por llanto problemático, inicialmente interpretado como de causa gastrointestinal. Dado que el síntoma persistía, se sospechó de una fractura debido a su asociación con la movilización de los miembros y la palpación de una tumoración en la cara anterior de la tibia derecha. Las radiografías mostraron compromiso poliostótico diafisario y lesiones compatibles con compromiso cortical de huesos largos. Se realizó el diagnóstico operativo de síndrome de Caffey-De Toni-Silverman y se inició el tratamiento con antiinflamatorios no esteroideos, lo que resultó en una remisión sintomática. Posteriormente, se confirmó el diagnóstico mediante la identificación de la variante patogénica COL1A1 en estado heterocigota. Se trata de una patología rara de la cual se estima una incidencia de 48/100 000 y hay menos de 150 casos descritos al momento.

Here we describe the case of a 2-month-old infant who consulted several times due to excessive crying, initially interpreted as having a gastrointestinal cause. Since the symptom persisted, a fracture was suspected due to its association with mobilization of the limbs and palpation of a mass on the anterior aspect of the right tibia. X-rays showed diaphyseal polyostotic involvement and lesions compatible with cortical involvement of long bones. Caffey-De Toni-Silverman syndrome was diagnosed and treatment with nonsteroidal anti-inflammatory drugs was initiated, resulting in symptom remission. Subsequently, the diagnosis was confirmed by the identification of the pathogenic heterozygous variant COL1A1. This is a rare condition with an estimated incidence of 48/100 000 individuals, and less than 150 cases have been described to date.

Bone and entheseal targets for growth factors in diffuse idiopathic skeletal hyperostosis.

INTRODUCTION: Diffuse idiopathic skeletal hyperostosis (DISH) is a common condition of the adult skeleton where new bone growth occurs in entheseal and bony regions. The cause for the new bone growth is unclear but many lines of evidence point to a role for growth factors linked to abnormal metabolism in these patients. The bone targets for these presumed growth factors are poorly defined. This review summarises the clinical evidence relevant to the sites of origin of new bone formation in DISH to better define potential cellular targets for bone growth in DISH. METHODS: This is a narrative review of relevant papers identified from searches of PubMed and online journals. RESULTS: Sites of new bone growth in the enthesis were identified in patients with DISH, with likely cellular targets for growth factors being mesenchymal stem cells in the outer part of the enthesis. Similar undifferentiated skeletal stem cells are present in the outer annulus fibrosis and in the bony eminences of vertebral bodies and other bones, with the potential for response to growth factors. CONCLUSION: Mesenchymal stem cells are present in specific entheseal and bony locations that are likely responsive to putative growth factors leading to new bone formation characteristic of DISH. Further study of these regions in the context of metabolic abnormalities in DISH will allow for better understanding of the pathophysiology of this common condition.

SAPHO syndrome in the mandible: A 17-patient-based experience.

SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) syndrome is a rare inflammatory bone disorder with a remarkably low incidence. The condition's impact on the mandible is exceptionally uncommon, often resulting in a high rate of misdiagnosis and an extended duration of illness. The objective of this study was to assess patients with SAPHO syndrome in the mandible in across various stages and to dissect their distinctive features, aiming to provide future clinical experience for the disease. METHODS: A retrospective analysis was performed on a cohort of 17 patients diagnosed with SAPHO syndrome affecting the mandible at the Second Affiliated Hospital of Zhejiang University from January 2020 to March 2023. Data including clinical presentations, imaging characteristics, and laboratory results were collected. RESULTS: The median age at disease onset was 25, with a diagnostic interval of 26 months. Notably, seven individuals were prepubescent (under the age of 14). Seven patients (41.18 %) exhibited polyostotic involvement, while eight patients (47.06 %) presented with dermatological manifestations either concurrently with or subsequent to the osseous lesions. Condyle involvement was identified in six patients (35.29 %), and bilateral mandibular affection was noted in an equivalent number. The majority of patients (sixteen patients, 94.12 %) reported symptomatic relief following treatment with nonsteroidal anti-inflammatory drugs (NSAIDs). Glucocorticoids were instrumental in managing severe pain and extreme limitations in mouth opening. For patients with refractory disease, tumor necrosis factor-alpha (TNF-α) inhibitors, Janus kinase (JAK) inhibitors and bisphosphonates were employed. Ultimately, effective pain management was achieved in the entire cohort. CONCLUSION: The diagnosis of SAPHO syndrome involving the mandible is exclusionary. It is important to improve diagnostic accuracy among oral and maxillofacial surgeons (OMFS), dentists, and rheumatologists to avoid unnecessary surgery and tooth extraction. TNF-α inhibitors, JAK inhibitors and bisphosphonates are recommended as third-line drugs.

Multicompartmental Paranasal Sinus Osteoma Complicated by Frontal Bone Hyperostosis, Intracranial Mucocele, and Inflammatory Pseudotumor.

Parasinusal osteoma complicated by intracranial and orbit extension, cranial vault hyperostosis, intracranial mucocele, and inflammatory pseudotumor is exceptional. A 68-year-old man presented with a long history of progressive proptosis and recurrent episodes of keratoconjunctivitis in the left eye, with restriction in upward gaze. Contrast-enhanced magnetic resonance imaging revealed a frontal sinus lesion extending to the left anterior fossa and orbit, featuring an intracranial cystic component and heterogeneous contrast enhancement. Head computed tomography confirmed the double calcific-cystic nature of the lesion. A left supraorbital-pterional approach allowed complete resection of mucocele and drilling of intracranial and orbital osteoma, including the intrasinusal component. The frontal sinus was cranialized, and a flap of pericranium, reinforced by Gelfoam sponge, was reflected on the anterior cranial base/orbital roof. The postoperative course was uneventful; magnetic resonance imaging depicted resolution of proptosis. Histological examination favored parasinusal osteoma associated with intracranial mucocele, frontal bone hyperostosis, and inflammatory pseudotumor.

Significant overlap of inflammatory and degenerative features on imaging among patients with degenerative disc disease, diffuse idiopathic skeletal hyperostosis and axial spondyloarthritis: a real-life cohort study.

BACKGROUND: Differentiating between degenerative disc disease (DDD), diffuse idiopathic skeletal hyperostosis (DISH), and axial spondyloarthritis (axSpA) represents a diagnostic challenge in patients with low back pain (LBP). We aimed to evaluate the distribution of inflammatory and degenerative imaging features in a real-life cohort of LBP patients referred to a tertiary university rheumatology center. METHODS: In a retrospective cross-sectional analysis of patients referred for LBP, demographics, symptom information, and available imaging were collected. SpA-like changes were considered in the spine in the presence of one of the following lesions typically related to SpA: erosions, sclerosis, squaring, and syndesmophytes on conventional radiographs (CR) and bone marrow oedema (BMO), erosions, sclerosis, and fat lesions (FL) on MRI. SIJ CR were graded per New York criteria; on MRIs, SIJs were evaluated by quadrant for BMO, erosions, FL, sclerosis and ankylosis, similar to the approach used by the Berlin SIJ MRI scoring system. The final diagnosis made by the rheumatologist was the gold standard. Data were presented descriptively, by patient and by quadrant, and compared among the three diagnosis groups. RESULTS: Among 136 referred patients, 71 had DDD, 38 DISH, and 27 axSpA; median age 62 years [IQR55-73], 63% males. On CR, SpA-like changes were significantly higher in axSpA in the lumbar (50%, vs. DDD 23%, DISH 22%), in DISH in the thoracic (28%, vs. DDD 8%, axSpA 12%), and in DDD in the cervical spine (67% vs. DISH 0%, axSpA 33%). On MRI, BMO was significantly higher in DISH in the thoracic (37%, vs. DDD 22%, axSpA 5%) and equally distributed in the lumbar spine (35-42%). FL were significantly more frequently identified in DISH and axSpA in the thoracic (56% and 52%) and DDD and axSpA in the lumbar spine (65% and 74%, respectively). Degenerative changes were frequent in the three groups. Sacroiliitis (NY criteria) was identified in 49% (axSpA 76%, DDD 48%, DISH 29%). CONCLUSION: A significant overlap was found among DDD, DISH, and axSpA for inflammatory and degenerative imaging features. Particularly, SpA-like spine CR features were found in one-fourth of patients with DISH, and MRI BMO was found in one-third of those patients.

Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis, Palmoplantar Pustulosis, and Neutrophilic Dermatoses: A GRAPPA 2023 Annual Meeting Update.

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome and chronic nonbacterial osteomyelitis (CNO) are rare autoinflammatory/autoimmune conditions seen in adults and children. Although osteoarticular manifestations are the primary distinguishing features of SAPHO, over half of patients also have palmoplantar pustulosis (PPP). These and other associated disorders such as acne, inflammatory bowel disease, and hidradenitis suppurativa are characterized, at least in the early stages, by neutrophilic infiltration. The bone and skin manifestations exhibit both innate and adaptive immune responses and therefore share similar pathogenic molecules and overlapping treatment targets. At the Group for Research and Assessment for Psoriasis and Psoriatic Arthritis (GRAPPA) 2023 annual meeting, a 3-part presentation provided an overview of current efforts at establishing consensus on diagnosis/classification, treatment, and core outcome sets for SAPHO/CNO; an overview of PPP in SAPHO and as a standalone condition; and finally, an overview of the role of the neutrophil in these disorders.

Cranial fluctuating asymmetry and its relationship with non-specific physiological stress indicators in a contemporary South African cadaveric skeletal sample.

OBJECTIVES: Biological anthropologists frequently explore skeletal asymmetry, together with population health and disease. Given the conflicting findings in existing literature, this study aimed to clarify whether an association exists in a South African sample. MATERIALS: Dry bone and cranial micro-focus X-ray Computed Tomography (micro-XCT) scans of 115 South African individuals were assessed. METHODS: Fluctuating asymmetry (FA) indices were calculated from interlandmark distances, and the frequency of four types of non-specific signs of physiological stress were documented to explore the relationship between FA and disease. RESULTS: Black South Africans did not exhibit a high FA index; however, they had the highest prevalence of non-specific signs of physiological stress. However, no significant correlations were detected between FA indices and pathological lesions. CONCLUSION: No correlation was observed between FA and populations from different socio-economic backgrounds. However, individuals of lower socio-economic status (SES) demonstrated a greater prevalence of non-specific signs of physiological stress. SIGNIFICANCE: This research suggests that skeletal indicators of stress may be a suitable biological marker for assessing differences in SES among population groups, while indicating that levels of cranial FA is an inadequate biological marker. LIMITATIONS: Possible limitations may include measurement error, and the lack of information on the life history and medical records of individuals in this sample. SUGGESTIONS FOR FURTHER RESEARCH: Future research should include a larger sample with more South African groups, and should evaluate the potential association among age, FA, and expression of skeletal markers of disease.

Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder.

Craniotubular dysplasia, Ikegawa type (OMIM #619727) denotes the autosomal recessive skeletal disease identified in 2021 featuring blindness acquired in childhood. Five young members of four Indian families harbored a homozygous indel within TMEM53 (OMIM *619722), the gene that encodes transmembrane protein 53 (TMEM53). When intact, TMEM53 spans the nuclear envelope of osteoprogenitor cells, dampens BMP-SMAD signaling, and thereby slows bone formation. Consequently, defective TMEM53 accelerates osteogenesis. Herein, an American boy is compound heterozygous for a novel deletion and a novel missense mutation within TMEM53. His vision and sensorineural hearing became impaired. Radiographic survey revealed diploic thickening of his skull, broad calvarial and facial bones, skeletal modeling errors, vertebral body flattening, wide ribs, and osteopenia of expanded bones. DXA areal bone density (gm/cm2) Z-scores were low. His optic, auditory, and spinal canals were narrow. Mineral metabolism was intact. Serum alkaline phosphatase and osteocalcin levels were normal yet CTX was high. Iliac crest histomorphometry documented accelerated bone formation. His acute vision loss briefly improved following prednisone administration, optic canal decompression, and optic nerve sheath fenestration, but then progressed despite further surgeries and zoledronate treatment aimed to suppress bone turnover. Next generation sequencing of genes associated with elevated skeletal mass, including from high bone turnover, did not suggest an etiology. Whole genome sequencing then revealed within TMEM53: i) a paternally transmitted 54-base deletion, which included the mRNA splice acceptor site for exon 2 as well as 31 bases of exonic sequence (c. 62-23_92del), and ii) a maternally transmitted missense variant (c.650C > T, p.Ser217Leu: NM_024587.4/NP_078863.2) which is extremely rare in gnomAD (frequency = 0.000036), replaces Ser217 highly conserved across species, and is scored as damaging by SIFT and Mutation Taster. We call this new osteopathy TMEM53 craniotubular dysplasia.