Spotted bones in an osteopoikilosis-related disease (Buschke Ollendorff Syndrome): Identifying this rare condition from the lab to the field.

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_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.

Increased Internal Carotid Artery Tortuosity is a Risk Factor for Spontaneous Cervicocerebral Artery Dissection.

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.

Trichoscopy findings in dissecting cellulitis

Abstract 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.

Vascular tortuosity of the internal carotid artery is related to the RNF213 c.14429G > A variant in moyamoya disease.

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.

Hybrid Arch Frozen Elephant Trunk Repair of Complex Arch Aneurysm With Severe Arterial Tortuosity.

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.

Yellow dots in trichoscopy: relevance, clinical significance and peculiarities

Abstract: 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.

Primary isolated osteoma cutis of the face.

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.

Benign Miliary Osteoma Cutis of the Face: A Common Incidental CT Finding.

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.

Cervical artery tortuosity is associated with intracranial aneurysm.

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.

Imaging a dermatosis with dental radiographs: A case report of facial osteoma cutis.

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.

Ultrasound pattern of a rare skin disease: multiple miliaryosteoma cutis.

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.

[Buschke-Ollendorff syndrome in two generations imitated Calvé-Legg-Perthes disease]. / Buschke-Ollendorffs syndrom i to generationer imiterende Calvé-Legg-Perthes' sygdom.

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.