Hidradenitis Suppurativa-Related Autoinflammatory Syndromes: An Updated Review on the Clinics, Genetics, and Treatment of Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PASH), Pyogenic Arthritis, Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PAPASH), Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO), and Rarer Forms.

Hidradenitis suppurativa (HS) is an autoinflammatory skin disorder of the terminal hair follicle, which can present in sporadic, familial, or syndromic form. A classification has been proposed for the latter, distinguishing cases associated with a known genetic condition, with follicular keratinization disorders or with autoinflammatory diseases. This review focuses on the clinical and genetic features of those entities (ie, pyoderma gangrenosum [PG], acne and HS; PG, acne, pyogenic arthritis and HS; psoriatic arthritis, PG, acne and HS; synovitis, acne, pustulosis, hyperostosis, osteitis; and so forth) for which the collective term HS-related autoinflammatory syndromes is proposed.

[Domestic software, medical devices and materials in surgery for hyperostotic craniofacial meningiomas]. / Primenenie otechestvennogo programmnogo obespecheniya, meditsinskikh izdelii i materialov v khirurgii giperostoticheskikh kraniofatsial'nykh meningiom. (Klinicheskii sluchai i obzor literatury).

OBJECTIVE: The modern concept of resection of hyperostotic craniofacial meningiomas involves the desire for one-stage surgery with excision of tumor and simultaneous extensive skull defect closure. MATERIAL AND METHODS: The authors present skull defect closure with an individual implant after resection of cranioorbital meningioma in a 61-year-old man. The neoplasm was accompanied by exophthalmos and eyelid edema. The patient underwent simultaneous microsurgical resection and skull reconstruction with an individual implant. At discharge (7 days after surgery), exophthalmos regressed to 3 mm. After 3 months, ophthalmologist revealed complete regression of exophthalmos. RESULTS: Domestic software and 3D printers were used for implant modeling and preparing the necessary physical models and molds. We intraoperatively used domestic polymer and titanium fixation systems for manufacturing and fixation of implant. CONCLUSION: This clinical case confirms that resection of hyperostotic craniofacial meningioma with simultaneous bone defect closure using domestic analogues of software, technical equipment, materials and methods is possible at all stages of this procedure.

Treatment and monitoring of SAPHO syndrome: a systematic review.

BACKGROUND AND OBJECTIVES: Synovitis acne pustulosis hyperostosis osteitis (SAPHO) is a rare heterogeneous disease of unknown aetiopathology. Externally validated and internationally agreed diagnostic criteria or outcomes and, as a result, prospective randomised controlled trials in SAPHO are absent. Consequently, there is no agreed treatment standard. This study aimed to systematically collate and discuss treatment options in SAPHO. METHODS: Following 'Preferred Reporting Items for Systematic Reviews and Meta-Analyses' guidance, a systematic literature search was conducted using PubMed, Scopus and Web of Science databases. Prospective clinical studies and retrospective case collections discussing management and outcomes in SAPHO involving five or more participants were included. Articles not published in English, studies not reporting defined outcomes, and studies solely relying on patient-reported outcomes were excluded. RESULTS: A total of 28 studies (20 observational, 8 open-label clinical studies) reporting 796 patients of predominantly European ethnicity were included. Reported therapies varied greatly, with many centres using multiple treatments in parallel. Most patients (37.1%) received non-steroidal anti-inflammatory drugs alone or in combination. Bisphosphonates (22.1%), conventional (21.7%) and biological (11.3%) disease-modifying antirheumatic drugs were the next most frequently reported treatments. Reported outcomes varied and delivered mixed results, which complicates comparisons. Bisphosphonates demonstrated the most consistent improvement of osteoarticular symptoms and were associated with transient influenza-like symptoms. Paradoxical skin reactions were reported in patients treated with TNF inhibitors, but no serious adverse events were recorded. Most treatments had limited or mixed effects on cutaneous involvement. A recent study investigating the Janus kinase inhibitor tofacitinib delivered promising results in relation to skin and nail involvement. CONCLUSIONS: No single currently available treatment option sufficiently addresses all SAPHO-associated symptoms. Variable, sometimes descriptive outcomes and the use of treatment combinations complicate conclusions and treatment recommendations. Randomised clinical trials are necessary to generate reliable evidence.

Skeletal manifestations of disease experience: Length of illness and porous cranial lesion formation in a contemporary juvenile mortality sample.

OBJECTIVES: Porous lesions of the orbit (cribra orbitalia [CO]) and cranial vault (porotic hyperostosis [PH]) are used as skeletal indicators of childhood stress. Because they are understudied in contemporary populations, their relationship to disease experience is poorly understood. This paper examines the relationship between length of childhood illness and CO/PH formation in a clinically documented sample. "Turning points," which identify the window for lesion formation for CO/PH, are defined, implications for hidden heterogeneity in frailty are considered. METHODS: Data are from 333 (199 males; 134 females) pediatric postmortem computed tomography scans. Individuals died in New Mexico (2011-2019) and are 0.5 to 15.99 years (mean = 7.1). Length of illness was estimated using information from autopsy and field reports. Logistic regression was used to estimate predicted probabilities, odds ratios, and the temporal window for lesion formation. RESULTS: Illness, single bouts, or cumulative episodes lasting over 1 month is associated with higher odds of CO; individuals who were never sick have lower odds of having PH. This relationship was consistent for fatal and incidental illnesses that did not cause death. The developmental window for CO formation appears to close at 8 years. CONCLUSIONS: Those ill for over 1 month are more likely to have CO/PH than those with acute illnesses. Some individuals lived sufficiently long to form CO/PH but died of illness. Others with lesions died of circumstances unrelated to disease. This indicates hidden variation in robusticity even among ill individuals with CO/PH, which is vital in interpreting lesion frequencies in the archeological record.

Destructive cervical spondylitis due to Cutibacterium acnes with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: A case report.

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a spectrum of heterogeneous diseases commonly recognised by skin and osteoarticular lesions. There have been reports of some surgical cases of the progressive, destructive spondylitis associated with SAPHO syndrome, wherein the destructive spondylitis was considered to have developed due to the progression of spondylitis with SAPHO syndrome as the pathogenic bacteria were not isolated. We herein report a surgical case of destructive cervical spondylitis associated with SAPHO syndrome. A 54-year-old woman with a history of palmoplantar pustulosis suffered severe neck pain for 6 months. Radiography and computeed tomography showed sclerosed and collapsed cervical vertebrae, and the patient was referred to our hospital for further evaluation and management upon suspicion of infection or spondylitis with SAPHO syndrome. For the severe neck pain and progressive destruction of cervical vertebrae, we performed posterior fusion surgery with subsequent anterior fusion. Cutibacterium acnes (C. acnes) was isolated by enrichment culture with thioglycolate broth from both the anterior and the posterior tissue samples. We diagnosed pyogenic spondylitis secondary to C. acnes infection and administered doxycycline for 6 weeks after the first surgery. The neck pain was resolved and cervical fusion was achieved one year postoperatively. C. acnes infection could elicit destructive spondylitis. An enrichment culture should be performed to isolate the pathogenic bacteria in cases of destructive spondylitis with SAPHO syndrome.

Neurological manifestations in patients and disease carriers in an Italian family with osteosclerosis.

BACKGROUND: Hereditary cranial hyperostosis is a rare disease never described in Italy, so the neurological manifestations in patients and carriers of the disease have been little studied. METHODS: We describe the neurological and neuroimaging features of patients and carriers of the gene from a large Italian family with sclerosteosis. RESULTS: In this family, genetic testing detected the homozygous p.Gln24X (c.70C > T) mutation of the SOST gene in the proband and a heterozygous mutation in 9 siblings. In homozygous adults, severe craniofacial hyperostosis was manifested by cranial neuropathy in childhood, chronic headache secondary to intracranial hypertension, and an obstructive sleep apnea syndrome in adults. In one of the adult patients, there was a compressible subcutaneous swelling in the occipital region caused by transosseous intracranial-extracranial occipital venous drainage, a compensation mechanism of obstructed venous drainage secondary to cranial hyperostosis. Mild cranial hyperostosis causing frequent headache and snoring was evident in the nine heterozygous subjects. CONCLUSIONS: Multiple cranial neuropathies and headache in children, while severe chronic headache and sleep disturbances in adults, are the neurological manifestations of the first Italian family with osteosclerosis. It is reasonable to extend neurological and neuroimaging evaluation to gene carriers as well.

Factors associated with favorable visual outcome after surgery of clinoidal meningiomas.

BACKGROUND: The anatomical relationship between clinoidal meningiomas and the optic nerve accounts for their frequent finding on visual disturbances. The goal of the surgery is to perform complete resection and obtain visual recovery. The aim of this study is to determine the factors associated with favorable visual outcome. METHODS: We recorded clinical (including ophthalmological), imaging and surgical data of all patients operated on for clinoidal meningiomas between 2010 and 2020 in 2 French neurosurgical departments and we analyzed their impact on visual outcome. RESULTS: A total of 34 patients were included. At 3-4 months after surgery, 23 patients (68%) had favorable visual outcome. Factors associated with favorable visual outcome were duration of ophthalmologic symptoms < 6 months, preoperative visual acuity > 0.5, absence of optic atrophy, meningioma in high signal intensity on T2-weighted or FLAIR MRI, absence of optic canal involvement and absence of bone hyperostosis on pre-operative CT scan. A soft tumor and a clear brain/tumor border were intra-operative factor associated with favorable ophthalmological outcome. CONCLUSIONS: In clinoidal meningiomas, an early surgery should be performed to optimize visual improvement. Hyperintense lesion on T2-weighted/FLAIR preoperative MRI is correlated with a soft consistency which allows an easier surgery associated with a favorable visual outcome. Invasion of the optic canal and bone hyperostosis should reserve the visual prognosis.

Coincidence of pachydermoperiostosis and synovitis, acne, pustulosis, hyperostosis, osteitis syndrome, a causal or casual association?

Pachydermoperiostosis (PDP) is a rare disorder characterized by skin thickening, acropachia, and periostosis. Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome is also an orphan disease featured by different dermatological and osteoarthritic manifestations. Herein, we report the first case of an adolescent male diagnosed with both PDP and SAPHO syndrome, presenting with digital clubbing, polyarthralgia, ostealgia, pachydermia and acne on his face, chest and back. Furthermore, we distinguish the characteristics of both diseases and explore the potential pathological mechanism for this coexistence in one patient. Further investigations are needed to establish the detailed pathophysiological association of these 2 diseases.

Incidental posterior rib hyperostosis on chest CT: incidence and etiology.

OBJECTIVE: Incidental rib hyperostosis is defined as asymmetric cortical thickening and sclerosis of the medial posterior ribs and is important because it may lead to unnecessary laboratory testing, additional imaging and occasionally biopsy. The purpose of this study is to identify the incidence of rib hyperostosis within different patient groups known to have an increased propensity towards osteophyte formation and ankylosis. METHODS: This study was a retrospective cohort study reviewing chest CT examinations in a control group of patients over 50 years old and three different patient populations: psoriatic arthritis, ankylosing spondylitis, and diffuse idiopathic skeletal hyperostosis (DISH). Each CT was evaluated by an attending musculoskeletal and cardiothoracic radiologist to identify rib hyperostosis, osteophyte formation, ankylosis, and spinal curvature. Two senior radiology residents also performed consensus reads and inter-reader reliability was calculated between the two groups. RESULTS: Two hundred eighty-two individuals were included in the study of which 38 (13.5%) had at least one hyperostotic rib. The ankylosing spondylitis population and the DISH population had the highest incidence of rib hyperostosis with a relative risk of 5.6 (p = 0.012) and 5.3 (p = < 0.001) when compared to the control group. There was good inter-reader reliability for the presence of rib hyperostosis with a kappa estimate of 0.739. CONCLUSION: Incidentally detected rib hyperostosis is most likely the sequela of abnormal stress on the ribs secondary to rib hypomobility from fusion at the costovertebral joint. The incidence of rib hyperostosis is markedly increased in the DISH and ankylosis spondylitis study populations.

Skull Base Primary Extracranial Meningioma with Hyperostosis in a Small Mixed-Breed Dog.

A 7 yr old female spayed Chihuahua-terrier mix was presented for a progressive dry, hacking cough over 9 mo, with dyspnea aggravated by eating and drinking. Computed tomography of the skull revealed a large mineral attenuating mass associated with the left skull base, without intracranial involvement. A modified ventral paramedian hypophysectomy approach along the medial aspect of the left ramus was used to approach the base of the skull. Ninety percent of the mass was debulked via high-speed pneumatic burr. Histopathology was consistent with hyperostosis originating from a primary extracranial meningioma (ECM), with the tissue staining positive for vimentin and negative for cytokeratin. The patient was symptom free for 9 mo before clinical signs returned because of tumor recurrence and was euthanized 11 mo postoperation because of diminished quality of life. ECM is uncommonly reported in the dog, and to the authors' knowledge has not previously been reported with hyperostosis or located along the skull base at the level of the tympanic bulla. Additionally, although hyperostosis predominantly occurs as diffuse bone thickening adjacent to a meningioma, proliferative focal hyperostosis is uncommon. Given the findings in this patient, ECM should be considered as a differential diagnosis for osseous skull base masses.

Cribra orbitalia and porotic hyperostosis are associated with respiratory infections in a contemporary mortality sample from New Mexico.

OBJECTIVES: Cribra orbitalia (CO) and porotic hyperostosis (PH) are porous cranial lesions (PCLs) classically associated with iron-deficiency anemia in bioarchaeological contexts. However, recent studies indicate a need to reassess the interpretation of PCLs. This study addresses the potential health correlates of PCLs in a contemporary sample by examining relationships between the known cause of death (COD) and PCL presence/absence. METHODS: This study includes a sample of 461 juvenile individuals (6 months to 15 years of age) who underwent examination at the University of New Mexico's Office of the Medical Investigator between 2011 and 2019. The information available for each individual includes their sex, age at death, and their COD and manner of death. RESULTS: Odds ratio of having CO (OR = 3.92, p < .01) or PH (OR = 2.86, p = .02) lesions are increased in individuals with respiratory infections. Individuals with heart conditions have increased odds of having CO (OR = 3.52, p = .03) lesions, but not PH. CONCLUSION: Individuals with respiratory infection are more likely to have CO and/or PH. CO appears to have a greater range of health correlates than PH does, as indicated by the heart condition results. However, individuals with congenital heart defects are at higher risk for respiratory infections, so bony alterations in cases of heart conditions may be due to respiratory illness. Since respiratory infection remains a leading cause of mortality today, CO and PH in bioarchaeological contexts should be considered as potential indicators of respiratory infections in the past.

Dysphagia as a symptom of anterior cervical hyperostosis - Case report.

Degenerative lesions with hyperostosis on the anterior surface of cervical spine are common in clinical practice. In addition to pain being an effect of spinal dysfunction, they sometimes cause difficulties in swallowing or speaking as well as breathing disorders. A 52-year-old farmer with 4-year history of gradually intensifying dysphagia was admitted to hospital due to inability to intake a solid food, significant weight loss, and because of the appearance of a new symptom - dysphonia. Previous conservative treatment for swallow difficulties was ineffective. CT revealed a bone excrescence on the anterior surface of two cervical vertebrae which caused an oesophageal obstruction and compression of the vocal folds. Structural abnormalities of cervical spine should be considered in differential diagnosis of symptoms from the oesophagus and upper respiratory tract, especially when a first-line conservative treatment is not effective. In these cases, surgical removal of the osteophyte is an effective way of treatment.

Hyperostosing sphenoid wing meningiomas.

Some sphenoid wing meningiomas are associated with a significant hyperostotic reaction of the adjacent sphenoid ridge that may even exceed the size of the intradural mass. The decision-making process and surgical planning based on neuroanatomic knowledge are the mainstays of management of this group of lesions. Given their natural history and biologic behavior, many hyperostosing meningiomas at this location require long-term management analogous to a chronic disease. This is particularly true when making initial decisions regarding treatment and planning surgical intervention, when it is important to take into consideration the possibility of further future interventions during the patient's life span.

Comparative Analysis of Endoscopic Transorbital Approach and Extended Mini-Pterional Approach for Sphenoid Wing Meningiomas with Osseous Involvement: Preliminary Surgical Results.

OBJECTIVE: Sphenoid wing meningiomas (SWMs) can be treated with complete surgical resection and the recently introduced endoscopic transorbital approach (ETOA) offers a minimally invasive alternative. In this study, the surgical outcome of ETOA and the extended mini-pterional approach (eMPTA) for SWMs with osseous involvement is compared. METHODS: From October 2015 to May 2019, 24 patients underwent surgery for SWMs with osseous involvement. Among them, tumor resection was performed by ETOA for 11 patients (45.8%) and eMPTA for 13 patients (54.2%). The tumor characteristics, surgical outcome and morbidity, and approach-related aesthetic outcome were analyzed and compared retrospectively between ETOA and eMPTA based on SWM classification. RESULTS: The location of SWMs was mostly the middle sphenoid ridge (group III) (45.8%), followed by the greater sphenoid wing (group IV) (29.2%). Simpson resection grades I/II were achieved in 9 of 11 patients (81.8%) with ETOA and 11 of 13 patients (84.6%) with eMPTA. There were no differences in tumor characteristics between the 2 approaches. Surgery time, surgical bleeding, and hospital length of stay were significantly shorter with ETOA. Three patients had transient surgical morbidities such as diplopia (n = 1), ptosis (n = 1), and cerebrospinal fluid leak (n = 1) after ETOA. No differences could be seen in surgical morbidities between ETOA and eMPTA. CONCLUSIONS: ETOA can provide direct access to the sphenoid bone and resectability with a more rapid and minimally invasive exposure than does eMPTA. Maximal subtotal resection with extensive sphenoid bone decompression for tumors with cavernous sinus infiltration is the key to a good clinical outcome, regardless of the surgical approach.

Endoscopic endo- and extra-orbital corridors for spheno-orbital region: anatomic study with illustrative case.

BACKGROUND AND OBJECTIVE: Management of selected spheno-orbital meningiomas via the endoscopic transorbital route has been reported. Surgical maneuverability in a narrow corridor as that offered by the orbit may be challenging. We investigate the additional use of an extra-orbital (EXO) path to be used in combination with the endo-orbital (EO) corridor. MATERIAL AND METHODS: Three human cadaveric heads (six orbits) were dissected at the Laboratory of Surgical Neuroanatomy at the University of Barcelona. The superior eyelid endoscopic transorbital approach was adopted, introducing surgical instruments via both corridors. Surgical freedom analysis was run to determine directionality of each corridor and to calculate the surgical maneuverability related to three anatomic targets: superior orbital fissure (SOF), foramen rotundum (FR), and foramen ovale (FO). We also reported of a 37-year-old woman with a spheno-orbital meningioma with hyperostosis of the lateral wall of the right orbit, treated with such combined endo-orbital and extra-orbital endoscopic approach. RESULTS: Combining both endo-orbital and extra-orbital corridors permitted a greater surgical freedom for all the targets compared with the surgical freedom of each corridor alone (EO + EXO to SOF: 3603.8 mm2 ± 2452.5 mm2; EO + EXO to FR: 1533.0 mm2 ± 892.2 mm2; EO + EXO to FO: 1193.9 mm2 ± 782.6 mm2). Analyzing the extra-orbital pathway, our results showed that the greatest surgical freedom was gained in the most medial portion of the considered area, namely the SOF (1180.5 mm2 ± 648.3 mm2). Regarding the surgical case, using both pathways, we gained enough maneuverability to nearly achieve total resection with no postoperative complications. CONCLUSION: An extra-orbital corridor may be useful to increase the instruments' maneuverability, during a pure endoscopic superior eyelid approach, and to reach the most medial portion of the surgical field from a lateral-to-medial trajectory. Further studies are needed to better define the proper indications for such strategy.

Subjects with diffuse idiopathic skeletal hyperostosis have an increased burden of coronary artery disease: An evaluation in the COPDGene cohort.

BACKGROUND AND AIMS: Diffuse idiopathic skeletal hyperostosis (DISH) is a common incidental finding on medical imaging and often thought to be benign. Our objective was to investigate whether DISH is associated with coronary artery disease as measured with the coronary artery calcification (CAC) score in a large cohort of current and former smokers. METHODS: In a subset of subjects from the COPDGene study, DISH was scored by a minimum of two independent readers if there were four adjacent levels of flowing osteophytes and a third reader adjudicated discrepancies. CAC was calculated using a modified Agatston method. Associations of DISH with the presence and extent of CAC were analyzed with and without adjustment for COPD and known atherosclerotic risk factors, including age, sex, race, diabetes, hypertension, high cholesterol, body mass index and smoking. RESULTS: DISH was present in 361 subjects (13.2%) from a total group of 2728. Median (interquartile range) Agatston was 81 (0-329) in DISH subjects compared to 0 (0-94 in subjects without DISH (p < 0.001). DISH prevalence was 8.8% in CAC = 0, 12.8% in CAC1-100, 20.0% in CAC100-400 and 24.7% in CAC.400. Subjects with DISH had a significantly higher risk of having coronary artery calcifications; OR [CI95%] 1.37[1.05-1.78] (p=0.019) after correction for age, gender, race, COPD and atherosclerotic risk factors. CONCLUSIONS: Subjects with DISH, a common musculoskeletal disorder involving bone formation anterior to the spine, have an increased burden of coronary artery disease, and therefore DISH may be a more relevant incidental finding than commonly thought.

The History of Arachne Through Historic Descriptions of Meningiomas with Hyperostosis: From Prehistory to the Present.

BACKGROUND: Intracranial meningiomas are brain tumors that have probably been known the longest, largely because of the occasional production of grotesque cranial deformities that have attracted the attention and interest of humankind. Because of the tendency of some intracranial meningiomas to cause skull deformation and thickening, these tumors have given rise to various speculations and theories related to their origin, starting in prehistoric times up to the present. METHODS: From the Steinheim skull and "pharaonic meningiomas" to the first meningioma monograph and the first explanations of Harvey Cushing regarding the mechanism of hyperostosis, this review aims to weave again the story of Arachne. We identify the main contributors who have tried to understand and explain the tendency of some of these tumors to cause hyperostosis or other skull bone involvements. CONCLUSIONS: The contribution of neurosurgeons or pathologists over the centuries is of undeniable importance and is the basis for understanding future molecular mechanisms.