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Background: Cervical arterial tortuosity is associated with adverse outcomes in Loeys-Dietz syndrome and other heritable aortopathies., Methods and Results: A method to assess tortuosity based on curvature of the vessel centerline in 3-dimensional space was developed. We measured cervical carotid tortuosity in 65 patients with Loeys-Dietz syndrome from baseline computed tomography angiogram/magnetic resonance angiogram and all serial images during follow-up. Relations between baseline carotid tortuosity, age, aortic root diameter, and its change over time were compared. Patients with unoperated aortic roots were assessed for clinical end point (type A aortic dissection or aortic root surgery during 4 years of follow-up). Logistic regression was performed to assess the likelihood of clinical end point according to baseline carotid tortuosity. Total absolute curvature at baseline was 11.13±5.76 and was relatively unchanged at 8 to 10 years (fold change: 0.026±0.298, P =1.00), whereas tortuosity index at baseline was 0.262±0.131, with greater variability at 8 to 10 years (fold change: 0.302±0.656, P =0.818). Baseline total absolute curvature correlated with aortic root diameter ( r =0.456, P =0.004) and was independently associated with aortic events during the 4-year follow-up (adjusted odds ratio [OR], 2.64 [95% CI, 1.02-6.85]). Baseline tortuosity index correlated with age ( r =0.532, P <0.001) and was not associated with events (adjusted OR, 1.88 [95% CI, 0.79-4.51]). Finally, baseline total absolute curvature had good discrimination of 4-year outcomes (area under the curve=0.724, P =0.014), which may be prognostic or predictive., Conclusions: Here we introduce cervical carotid tortuosity as a promising quantitative biomarker with validated, standardized characteristics. Specifically, we recommend the adoption of a curvature-based measure, total absolute curvature, for early detection or monitoring of disease progression in Loeys-Dietz syndrome.

Competing Interests: The authors have no conflicts of interest regarding this article and have received no funding for this work.

Purpose: To explore the association between carotid artery length and tortuosity, and the occurrence of stroke., Material and Methods: In this retrospective study, IRB approved, 411 consecutive patients (males: 245; median age: 56 ± 12 years, age range: 21-93 years) with anterior circulation ischemic stroke were included. Only patients that underwent CTA within 7 days were considered and stroke caused by cardiac embolism and thoracic aorta embolism were excluded. For each patient, both carotid arteries were considered, and the ICA, CCA-ICA length and tortuosity were calculated. Inter-observer analysis was quantified with the Bland-Altman test. Mann-Whitney test and logistic regression analysis were also calculated to test the association between length and tortuosity with the occurrence of stroke., Results: In the final analysis, 166 patients (males: 72; median age: 54 ± 12 years, age range: 24-89 years) with anterior circulation ischemic stroke that were admitted to our hospital between February 2008 and December 2013 were included. The results showed a good concordance for the length of the vessels with a mean variation of 0.7% and 0.5% for CCA-ICA and ICA length respectively an for the tortuosity with a mean variation of 0.2% and -0.4% for CCA-ICA and ICA respectively. The analysis shows a statistically significant association between the tortuosity index of the ICA and CCA-ICA sides with stroke ( P value = 0.0001 in both cases) and these findings were confirmed also with the logistic regression analysis., Conclusion: Results of this study suggest that tortuosity index is associated with the presence of stroke whereas the length of the carotid arteries does not play a significant role.

Objective: To improve the differential diagnosis of osteopoikilosis in past populations using a clinical case as an example of this rare condition., Materials: A patient referred to our Genetic Service with suspected Buschke Ollendorff Syndrome after finding a connective nevus., Methods: Radiological images from different body regions were accompanied by a genetic study using next-generation sequencing., Results: Small circular-to-ellipsoid sclerotic lesions were found in the epiphysis and metaphysis of long bones, as well as in the pelvis. These lesions were bilaterally distributed and with well-defined margins, compatible with the characteristics of Buschke Ollendorff Syndrome, bone manifestation osteopoikilosis. A heterozygous mutation on LEMD3 (NM&#95;001167614:c.1918 + 1G > C) was identified by next-generation sequencing. Based on this confirmed case, we have discussed the most probable causes of similar bone lesions found in the archaeological record., Conclusion: It has been demonstrated how a current case of a rare disease can provide useful tools to improve the differential diagnosis of this disease in ancient skeletons., Significance: This work underlines the great need for multidisciplinary platforms that integrates clinical research into paleopathology in order to successfully address the study of rare diseases from the past., Limitations: Since OPK is only detected by X-rays, suspected cases of this bone lesion will only be identified when radiographs are taken for other purposes., Suggestions for Further Research: Retrospective and large-scale studies of radiographs from other research in past populations., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Background: Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disorder chiefly characterized by elongated and tortuosity of the large and medium sized arteries and anomalies of the vascular elastic fibers. Here we reported cases of brother about ATS from the same family on the prenatal ultrasound diagnosis. Reports of this case are rare in antenatally and we draw the vessel simulated diagram to display visually., Case Presentation: Prenatal ultrasound scanning at 29 weeks of gestation of the first fetus showed obvious tortuous and elongated of the aortic arch, ductus arteriosus, left and right pulmonary arteries, carotid and subclavian arteries. Three months after delivery, Contrast-enhanced computed tomography images (CTA) were performed to clearly display vascular abnormalities consistent with prenatal diagnosis of ultrasound. Whole exome sequencing (WES) was performed eight months after birth, two heterozygous variants of SLC2A10 gene was detected in newborn and their father and mother, respectively. Prenatal ultrasound scan at 22 weeks of gestation of the second fetus showed similar cardiovascular imaging. After birth the siblings have facial characteristic features gradually as aging. No surgical intervention was performed in the siblings follow up 19 months., Conclusions: The key points of prenatal ultrasound diagnosis of ATS are the elongation and tortuosity of the large and medium sized arteries. Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions., (© 2021. The Author(s).)

Objective: Spontaneous cervicocerebral artery dissection (sCCD) is an important cause of ischaemic stroke that often occurs in young and middle aged patients. The purpose of this study was to investigate the correlation between tortuosity of the carotid artery and sCCD., Methods: Patients with confirmed sCCD who underwent computed tomography angiography (CTA) were reviewed retrospectively. Age and sex matched patients having CTA were used as controls. The tortuosity indices of the cervical arteries were measured from the CTA images. The carotid siphon and the extracranial internal carotid artery (ICA) were evaluated according to morphological classification. The carotid siphons were classified into five types. The extracranial ICA was categorised as simple tortuosity, coiling or kinking. Independent risk factors for sCCD were investigated using multivariable analysis., Results: The study included sixty-six patients with sCCD and 66 controls. There were no differences in vascular risk factors between the two groups. The internal carotid tortuosity index (ICTI) (25.24 ± 12.37 vs. 15.90 ± 8.55, respectively; p < .001) and vertebral tortuosity index (VTI) (median 11.28; interquartile range [IQR] 6.88, 18.80 vs. median 8.38; IQR 6.02, 12.20, respectively; p = .008) were higher in the patients with sCCD than in the controls. Type III and Type IV carotid siphons were more common in the patients with sCCD (p = .001 and p < .001, respectively). The prevalence of any vessel tortuosity, coiling and kinking of the extracranial ICA was higher in the patients with sCCD (p < .001, p = .018 and p = .006, respectively). ICTI (odds ratio [OR] 2.964; p = .026), VTI (OR 5.141; p = .009), and Type III carotid siphons (OR 4.654; p = .003) were independently associated with the risk of sCCD., Conclusion: Arterial tortuosity is associated with sCCD, and greater tortuosity of the cervical artery may indicate an increased risk of arterial dissection., (Copyright © 2020 European Society for Vascular Surgery. Published by Elsevier B.V. All rights reserved.)

Segmental stiff skin syndrome is a rare genetic connective tissue disease, which is often misdiagnosed. High-frequency ultrasonography can represent a useful clinical adjunct in the differential diagnosis of this condition, in conjunction with the clinical and histopathological findings. Treatment options are limited and evidence is scarce. We present the clinical, sonographic and histological features of five paediatric patients diagnosed at our institution and discuss their response to treatment., (© 2020 British Association of Dermatologists.)

Arterial tortuosity syndrome (ATS) is a rare, autosomal recessive, connective tissue disorder. It predominantly involves the arterial tree with clinical features reflecting the systems involved. There have been few cases of ATS suspected during antenatal screening ultrasound in high-risk families, but none confirmed. We present the first case of ATS confirmed antenatally in the fetus with cascade testing, detecting the disease in the mother as well.

Transforming growth factor β (TGF-β) superfamily signaling pathways are ubiquitous and essential for several cellular and physiological processes. The overexpression of TGF-β results in excessive fibrosis in multiple human disorders. Among them, stiff skin syndrome (SSS) is an ultrarare and untreatable condition characterized by the progressive thickening and hardening of the dermis, and acquired joint limitations. SSS is distinct in a widespread form, caused by recurrent germline variants of FBN1 encoding a key molecule of the TGF-β signaling, and a segmental form with unknown molecular basis. Here, we report a 12-year-old female with segmental SSS, affecting the right upper limb with acquired thickening of the dermis evident at the magnetic resonance imaging, and progressive limitation of the elbow and shoulder. To better explore the molecular and cellular mechanisms that drive segmental SSS, several functional studies on patient's fibroblasts were employed. We hypothesized an impairment of TGF-β signaling and, consequently, a dysregulation of the associated downstream signaling. Lesional fibroblast studies showed a higher phosphorylation level of extracellular signal-regulated kinase 1/2 (ERK1/2), increased levels of nuclear factor-kB (NFkB), and a nuclear accumulation of phosphorylated Smad2 via Western blot and microscopy analyses. Quantitative PCR expression analysis of genes encoding key extracellular matrix proteins revealed increased levels of COL1A1 , COL3A1 , AGT , LTBP and ITGB1 , while zymography assay reported a reduced metalloproteinase 2 enzymatic activity. In vitro exposure of patient's fibroblasts to losartan led to the partial restoration of normal transforming growth factor β (TGF-β) marker protein levels. Taken together, these data demonstrate that in our patient, segmental SSS is characterized by the overactivation of multiple TGF-β signaling pathways, which likely results in altered extracellular matrix composition and fibroblast homeostasis. Our results for the first time reported that aberrant TGF-β signaling may drive the pathogenesis of segmental SSS and might open the way to novel therapeutic approaches.

Dissecting cellulitis is an inflammatory, chronic, and recurrent disease of the hair follicles that mainly affects young Afro-descendent men. Trichoscopy is a method of great diagnostic value for disorders of the scalp. Clinical and trichoscopic findings of dissecting cellulitis are heterogeneous and may present features common to non-cicatricial and scarring alopecia. This article presents the trichoscopic findings of dissecting cellulitis that help in the diagnosis and consequent institution of the appropriate therapy and better prognosis of the disease., (Copyright © 2019. Published by Elsevier España, S.L.U.)

Patients with complex aortic arch aneurysms and severe arterial tortuosity represent a unique challenge because of extreme angulations, mixed aneurysm and stenotic disease, and fragile tissues. Novel hybrid arch frozen elephant trunk techniques can expand surgical repair options to include single-stage, complete aortic reconstruction via sternotomy alone, without the need for simultaneous thoracotomy or clamshell incisions. We describe successful hybrid aortic arch reconstruction with Thoraflex Hybrid graft in a patient with complex arch aneurysm and severe arterial tortuosity.

Recent studies have implicated RNF213 mutations in the pathogenesis of moyamoya disease (MMD). However, the underlying mechanism of disease development is not fully elucidated. Nonetheless, a possible relationship between vascular morphology and hemodynamics related with MMD has been proposed. Here, we aimed to investigate the relationship between a variant of RNF213 and the morphology of the internal carotid artery (ICA). We enrolled bilateral MMD patients who had undergone genetic testing for RNF213. Patients were divided into mutant and wild-type groups. Six anatomy-specific three-dimensional coordinates were collected using magnetic-resonance angiography. From these, five vectors between two adjacent points and four angles between two adjacent vectors were calculated. The tortuosity was defined as the ratio between the actual and the linear length of the ICAs. Among 58 patients, 44 and 14 belonged to the mutant and wild-type groups, respectively. The tortuosity of ICAs was significantly lower in the mutant group (p = 0.010). The change in blood flow direction was more prominent in the wild-type group (p = 0.002). The tortuosity was significantly lower in MMD patients than normal controls (p < 0.001). Our results indicate that RNF213 could play a role in the lower tortuosity observed in patients with RNF213 mutation.

This paper describes a systematic investigation on the hemodynamic environment in a patient-specific AAA with tortuous common iliac artery(CIA) and external iliac artery (EIA). 3D reconstructions from CT scans and subsequent computational simulation are carried out. It is found out that the Newtonian and non-Newtonian models have very similar flow field and WSS distribution. More importantly, it is revealed that the torturous CIA maintained its helical flow. It is concluded that the assumption of Newtonian blood is adequate in capturing the intra-aneurysmal hemodynamics. Moreover, it is speculated that the physiological spiral flow protects the twisted CIA from the thrombosis formation.

Gerodermia osteodysplastica (GO) is a segmental progeroid disorder caused by loss-of-function mutations in the GORAB gene, associated with early onset osteoporosis and bone fragility. A conditional mouse model of GO (Gorab Prx1 ) was generated in which the Gorab gene was deleted in long bones. We examined the biomechanical/functional relevance of the Gorab Prx1 mutants as a premature aging model by characterizing bone composition, tissue-level strains, and whole-bone morphology and mechanical properties of the tibia. MicroCT imaging showed that Gorab Prx1 tibiae had an increased anterior convex curvature and decreased cortical cross-sectional area, cortical thickness and moments of inertia, compared to littermate control (LC) tibiae. Fourier transform infrared (FTIR) imaging indicated a 34% decrease in mineral/matrix ratio and a 27% increase in acid phosphate content in the posterior metaphyseal cortex of the Gorab Prx1 tibiae (p < .05), suggesting delayed mineralization. In vivo strain gauge measurement and finite element analysis showed ∼two times higher tissue-level strains within the Gorab Prx1 tibiae relative to LC tibiae when subjected to axial compressive loads of the same magnitude. Three-point bending tests suggested that Gorab Prx1 tibiae were weaker and more brittle, as indicated by decreasing whole-bone strength (46%), stiffness (55%), work-to-fracture (61%) and post-yield displacement (47%). Many of these morphological and biomechanical characteristics of the Gorab Prx1 tibia recapitulated changes in other animal models of skeletal aging. Future studies are necessary to confirm how our observations might guide the way to a better understanding and treatment of GO., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

Yellow dots are follicular ostium filled with keratin and/or sebum. Initially, they were exclusively associated with alopecia areata. Currently they have also been described in androgenetic alopecia, chronic cutaneous (discoid) lupus erythematosus, and dissecting cellulitis. Due to the growing importance of trichoscopy and its findings in the evaluation of the scalp, this article describes the main diseases in which yellow dots are a common trichoscopic finding, highlighting its characteristics in each dermatosis.

Purpose: Compared to the intracranial vasculature in sickle cell disease (SCD) patients, the morphologic changes of the extracranial vasculature in SCD patients are less well understood. The purpose of this study was to evaluate the tortuosity of the extracranial carotid and vertebral arteries in patients with SCD compared to age-matched controls., Methods: Following Institution Review Board approval, between January 2004 and December 2013, Magnetic resonance angiogram neck examinations were retrospectively reviewed on 56 patients with SCD and 56 age-matched controls. Vessel tortuosity was measured as curved vector lengths in the common carotid, extracranial internal carotid, and vertebral arteries bilaterally. Correlation of vessel tortuosity with age and hematocrit level was assessed. Paired and unpaired Student's t-tests were performed to determine within and between group differences., Results: Greater tortuosity in extracranial carotid and vertebral arteries were noted in patients with SCD as compared to age-matched control patients (P < .001). Greater differences in tortuosity between carotid and vertebral arteries were noted in SCD patients as compared to differences in control patients. Incidence of infarction was significantly associated with greater tortuosity of right carotid (P = .002), right (P = .004), and left (P = .020) vertebral arteries., Conclusions: Extracranial carotid and vertebral arterial tortuosity is increased in SCD patients. This could be related to aberrations in hemodynamics from nonlaminar flow in these vessels. These increases in extracranial vascular tortuosity could potentially lead to alterations in intracranial vascular tortuosity and may be an independent risk factor for cerebral infarct., (Copyright © 2016 by the American Society of Neuroimaging.)

Background Intracranial aneurysms may be associated with an underlying arteriopathy, leading to arterial wall fragility. Arterial tortuosity is a major characteristic of some connective tissue disease. Aim To determine whether intracranial aneurysm is associated with an underlying arteriopathy. Methods Using a case-control design, from May 2012 to May 2013, we selected intracranial aneurysm cases and controls from consecutive patients who had conventional cerebral angiography in our center. Cases were patients with newly diagnosed intracranial aneurysm. Controls were patients who had diagnostic cerebral angiography and free of aneurysm. The prevalence of tortuosity, retrospectively assessed according to standard definitions, was compared between cases and controls and, association between tortuosity and some aneurysm characteristics was examined, in cases only. Results About 659 arteries from 233 patients (112 cases and 121 controls) were examined. Tortuosity was found in 57 (51%) cases and 31 (26%) controls (adjusted OR = 2.71; 95%CI, 1.53-4.80). The same trend was found when looking at each tortuosity subtype (simple tortuosity, coil, kink) or at carotid or vertebral territory separately. In contrast, no association between tortuosity and rupture status, aneurysm number or neck size was found. Conclusions Cervical artery tortuosity is significantly associated with intracranial aneurysm, although not related to main aneurysm characteristics. Our results support the presence of an underlying diffuse arteriopathy in intracranial aneurysm patients.

Purpose: The aim of this study was to test the hypothesis that patients with spontaneous cervical artery dissection (CeAD) have increased arterial tortuosity, and the objective quantification of such a tortuosity may aid in the identification of subjects at increased risk of disease., Methods: In the setting of a hospital-based, case-control study, we used the vertebral tortuosity index (VTI) measured on magnetic resonance angiography, a validated method for the assessment and quantification of arterial tortuosity, to compare the degree of tortuosity in a series of consecutive patients with spontaneous CeAD and of age- and sex-matched patients with ischemic stroke unrelated to CeAD (non-CeAD IS) and stroke-free subjects., Results: The study group was composed of 102 patients with CeAD (mean age, 44.5 ± 7.8 years; 66.7% men), 102 with non-CEAD IS, and 102 stroke-free subjects. The VTI was higher in the group of patients with CeAD (median, 7.3; 25th-75th percentile, 10.2) compared with that of non-CeAD IS (median, 3.4; 25th-75th percentile, 4.4) and of stroke-free subjects (median, 4.0; 25th-75th percentile, 2.9; p ≤ 0.001), and was independently associated to the risk of CeAD (OR, 1.18; 95% CI, 1.09-1.29) in multivariable regression analysis. The degree of tortuosity also tended to be higher in CeAD patients who experienced short-term recurrence (5.8%; median, 20.2; 25th-75th percentile, 31.2) than in those without recurrent events (median, 7.2; 25th-75th percentile, 9.4; p = 0.074)., Conclusion: CeAD patients exhibit increased arterial tortuosity. This might have potential implications for better understanding of the pathophysiology of the disease as well as clinical utility in evaluation, prognostication, and decision-making of affected individuals.

We report a healthy, 44-year-old woman presenting with an at least a 20-year history of hardened papules in the forehead region, extending to the scalp. The biopsy and histopathologic exam confirmed a diagnosis of osteoma cutis. We review the literature review and discuss the classification of the cutaneous ossification process presented, along with the results of the surgical treatment.

Background and Purpose: Osteoma cutis of the face represents a primary or secondary formation of ossific foci in the facial skin. Its primary form has been sparsely described in the plastic surgery and dermatology literature. As radiologists, we routinely encounter incidental, very small facial calcified nodules on CT studies performed for a variety of unrelated reasons. We hypothesized that this routinely encountered facial calcification represents primary miliary osteoma cutis and is a common, benign, age-related finding., Materials and Methods: We retrospectively reviewed 1315 consecutive sinus CTs obtained during an 8-month period and their associated demographics. The number of dermal radiopaque lesions with Hounsfield units of >150 was counted, and we analyzed the association between the prevalence of these lesions and patients' demographics with logistic regression methods., Results: Five hundred ninety-nine males and 716 females from 4 to 90 years of age were included in the study (mean, 52 versus 51 years; P = .259). Among these, 252 males and 301 females had small facial calcified nodules (42.1% versus 42.0%, P = .971). The patient's age was a statistically significant predictor for having facial calcified nodules (odds ratio = 1.02, P < .001), while the patient's sex was not ( P = .826)., Conclusions: Facial calcified nodules, observed in routine head and face CT imaging, are common, benign, age-related findings, which have been largely overlooked in the radiology literature. It is a manifestation of primary miliary osteoma cutis., (© 2017 by American Journal of Neuroradiology.)

Background and Purpose: Arteriopathy is the leading cause of childhood arterial ischemic stroke. Mechanisms are poorly understood but may include inherent abnormalities of arterial structure. Extracranial dissection is associated with connective tissue disorders in adult stroke. Focal cerebral arteriopathy is a common syndrome where pathophysiology is unknown but may include intracranial dissection or transient cerebral arteriopathy. We aimed to quantify cerebral arterial tortuosity in childhood arterial ischemic stroke, hypothesizing increased tortuosity in dissection., Methods: Children (1 month to 18 years) with arterial ischemic stroke were recruited within the Vascular Effects of Infection in Pediatric Stroke (VIPS) study with controls from the Calgary Pediatric Stroke Program. Objective, multi-investigator review defined diagnostic categories. A validated imaging software method calculated the mean arterial tortuosity of the major cerebral arteries using 3-dimensional time-of-flight magnetic resonance angiographic source images. Tortuosity of unaffected vessels was compared between children with dissection, transient cerebral arteriopathy, meningitis, moyamoya, cardioembolic strokes, and controls (ANOVA and post hoc Tukey). Trauma-related versus spontaneous dissection was compared (Student t test)., Results: One hundred fifteen children were studied (median, 6.8 years; 43% women). Age and sex were similar across groups. Tortuosity means and variances were consistent with validation studies. Tortuosity in controls (1.346±0.074; n=15) was comparable with moyamoya (1.324±0.038; n=15; P=0.998), meningitis (1.348±0.052; n=11; P=0.989), and cardioembolic (1.379±0.056; n=27; P=0.190) cases. Tortuosity was higher in both extracranial dissection (1.404±0.084; n=22; P=0.021) and transient cerebral arteriopathy (1.390±0.040; n=27; P=0.001) children. Tortuosity was not different between traumatic versus spontaneous dissections (P=0.70)., Conclusions: In children with dissection and transient cerebral arteriopathy, cerebral arteries demonstrate increased tortuosity. Quantified arterial tortuosity may represent a clinically relevant imaging biomarker of vascular biology in pediatric stroke., (© 2016 American Heart Association, Inc.)

Osteoma cutis is a condition that generally presents with true bony deposits in the skin. Although the pathogenesis of osteoma cutis is not clear, it supposes that certain preexisting conditions like acne vulgaris may contribute to generating these ossifications. These osteomas are usually asymptomatic and do not require any treatment unless they cause cosmetic issues. Rarely, this dermatologic condition may be observed in dental practices and it may be difficult to understand and diagnose the clinical and radiographic findings of this disease. In the current case, the diagnosis of osteoma cutis and the special sub-type multiple miliary osteoma of the face was made after considering the patient's history and the clinical and radiographic examinations. In order to contribute to the understanding of the diagnosis, the etiology, imaging modalities, and treatment of this rare disease, we present a case report of a 60-year-old woman with incidentally recognized multiple radiopaque microspheres that presented on intraoral radiographs, a panoramic radiograph, and CT scan. General practitioners should have some knowledge regarding the clinical and radiographic findings of this disease. They may be the first person to identify the condition and may play an important role in explaining the findings or cosmetic problems of their patients. This knowledge is also required for the necessary consultations and treatment of the patient.

Purpose: Multiple miliaryosteoma cutis (MMOC) is a rare nodular skin disease, characterized by tiny bone nodules in the dermis and subcutaneous tissue, presenting clinically as multiple normochromic papules and nodules, usually on the face. We described the case of MMOC of the face in a woman, ultrasonically evaluated with very high frequency probe., Materials and Methods: A 45-year-old patient with multiple papules, 3-5 mm in diameter, grouped in the frontal region. Skin ultrasound examination, cutaneous biopsy and laboratory evaluation were performed., Results: High-frequency ultrasound showed the presence of multiple hyperechogenic linear and roundish structures, associated by hypoechogenic shadow. The histology revealed a normal orthokeratotic stratified epithelium with fragment of mature lamellar bone localized at level of the reticular dermis. Laboratory evaluation was normal. According to the clinical, pathological, laboratory and instrumental analyses, a final diagnosis of miliaryosteoma cutis (or primary osteoma cutis not associated with Albright's hereditary osteodystrophy) was made., Conclusion: In case of multiple papules of subcutaneous tissue, the diagnosis of MMOC, although rare, should be considered and high-frequency sonography, identifying the calcifications, suggests diagnosis.

A Dieulafoy lesion describes a tortuous, submucosal artery in the gastrointestinal tract--most commonly the posterior stomach--that penetrates through the mucosa over time, eventually perforating to cause severe gastrointestinal bleeding. Due to its insidious onset, tendency to cause intermittent but severe bleeding, and difficulty of endoscopic diagnosis, Dieulafoy lesion has a very high mortality rate. Although originally thought not to be a radiologically diagnosable entity, Dieulafoy lesions can be seen at enhanced CT of the abdomen. The purpose of this review is to summarize the pathophysiology, epidemiology, diagnosis, and management of Dieulafoy lesions with a focus on diagnostic findings at enhanced CT imaging., (Copyright © 2015 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.)

Buschke-Ollendorff syndrome is a rare condition characterized by skin manifestations and osteopoikilosis. We describe a mother and her son who presented with indurated skin lesions suggestive of connective tissue naevi. X-rays showed multiple symmetrical foci of osteosclerosis. They had both been diagnosed earlier with Calvé-Legg-Perthes disease, which on revision most likely represented Buschke-Ollendorff syndrome. Buschke-Ollendorff syndrome may imitate Calvé-Legg-Perthes disease. Skin signs may be the clue to diagnosis. Main differentials are sclerotic bone metastases and osteoma.

Buschke-Ollendorff syndrome (BOS) is an autosomal-dominant disease characterized by the association of connective tissue nevi and osteopoikilosis. It is diagnosed by mutations of proteins involved in bone and connective tissue morphogenesis. We report 2 cases of BOS with different cutaneous clinical patterns. These cases emphasize the importance of heightened suspicion of BOS in selected cases. Identifying BOS can be reassuring for the patient, sparing futile and expensive investigations.

Objective: We present a rare case of keratinic amyloidosis of the external auditory canal. This is only the seventh case reported of localized cutaneous amyloidosis of the external auditory canal with no systemic symptoms., Patient: A 62-year-old man, who had complained of an itchy external auditory canal and left-side hearing loss, was referred to our hospital because of a bilateral external auditory canal mass., Intervention: Biopsy of the external auditory canal mass suggested a diagnosis of amyloidosis. However, total systemic examination failed to identify any disease due to systemic amyloidosis. This led us to diagnose him with localized cutaneous amyloidosis of the external auditory canal., Main Outcome Measure: We follow up periodically with systemic examination and local observation., Results: Thirty months after the initial diagnosis, he remains in follow-up and has not shown any significant aggravation of the disease., Conclusion: In previous cases, the chief complaints were itching sensations and pain in the external auditory canal as well as a sense of discomfort when wearing a hearing aid. This suggests that chronic stimulation and inflammation of the skin lining the external auditory canal induced amyloidosis., (Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.)

Background: Tortuous blood vessels are commonly seen in the cerebral arteries. The association between vertebrobasilar artery tortuosity and vascular vertigo remains obscure., Case Presentation: We describe two patients with vascular vertigo who had bilateral curving and spiral looping in multiple segments of the vertebral arteries and also exhibited basilar artery tortuosity. Both patients had cerebrovascular risk factors and exhibited clinical features of vertigo with high severity, slow recovery, and recurrent tendencies. Contrast enhanced magnetic resonance angiography of the neck showed bilateral tortuosity in the V2 segments and spiral twisting in the V4 segments of the vertebral arteries, and basilar artery curving. No obvious sign of atherosclerotic stenosis was found in the vertebrobasilar arteries and no abnormalities were observed in the internal carotid arteries. Transcranial Doppler ultrasound showed decreased blood flow in tortuous vertebrobasilar arteries. Brainstem auditory evoked potentials showed that the interpeak latencies (IPL) of waves III-IV were prolonged, with a ratio of IPL III-V/IPL I-III > 1., Conclusions: Vertebrobasilar tortuosity in combination with cerebrovascular risk factors may lead to vascular vertigo in these patients.

The article is devoted the study of role of the phenomenon of coronal arterial tortuosity in pathogeny of ischemic heart disease. For 89% patients with a cardiac pain and coronal arterial tortuosity at which at a conservative cardiologic inspection it was not discovered signs of organic defeat of heart and coronal vessels, by the high-specific functional methods of research and stress-tests the presence of cardial ischemia is set. Accordance localization of ischemic areas of myocardium is also exposed to the areas of vascularization by the coronal tortuosity arteries. Among all inspected persons with the coronal arterial tortuosity 21.7% belonged to the group of workers the profession of which is related to the combined action of local vibration and industrial noise.

A 3-year-old boy presented with asymptomatic elastomas on the posterior trunk. Radiographic studies revealed osteopoikilosis, confirming the diagnosis of Buschke-Ollendorff syndrome. The patient had a history of bilateral simple cutaneous syndactyly, which has not been previously reported with this condition. Buschke-Ollendorff syndrome is a rare autosomal-dominant disorder characterized by connective tissue nevi and osteopoikilosis. Several associated systemic abnormalities have been reported, but morbidity and mortality are generally not affected., (© 2012 Wiley Periodicals, Inc.)