Giant congenital fibroblastic connective tissue nevus associated with vascular anomalies.

We described an unusual combination of fibroblastic connective nevus (FCTN) already present at birth with underlying vascular anomalies. Overall, the lesion appeared as a large purplish-brown mass in the groin region up to the third of the right thigh, with partial spontaneous regression during the first three months of life. The FCTN observed exhibited several unusual characteristics: it was congenital, large in size, and located in the lower limbs. Finally, it represented the first case described in which an FCTN arose in association with vascular anomalies.

Mediastinal lymphadenopathies and skin lesions in a 49-year-old Sinhalese man.

Leprosy is a neglected disease sporadically reported in high-income countries. Skin lesion and peripheral nerve involvement represent most common manifestations. Mediastinal lymphadenopathy in the absence of superficial lymph nodes involvement is very rare. Atypical or rare clinical presentations of disease may delay diagnosis and therapy and cause potential life-threatening manifestations and disabilities. We describe the case of a 49-year-old Sinhalese man who was admitted to our hospital with a one-month history of peripheral neurological symptoms and skin lesions on lower limbs. CT scan showed the presence of mediastinal lymphadenopathies without lung parenchymal and superficial lymph nodes involvement. Endobronchial ultrasound-guided transbronchial needle aspiration showed the presence of granulomas while skin biopsy revealed dermo-hypodermic granulomas with perineural lymphohistiocytic inflammatory reaction. Fite-Faraco staining demonstrated the presence of acid-fast bacilli in both lymph nodal and skin biopsy and polymerase chain reaction was positive for Mycobacterium leprae. Multibacillary leprosy was then diagnosed.

A multiparametric analysis combining DCE-MRI- and IVIM -derived parameters to improve differentiation of parotid tumors: a pilot study.

AIM: To evaluate dynamic contrast-enhanced (DCE)-MRI and diffusion weighted (DW)-MRI diagnostic value to differentiate Warthin tumors (WT) by pleomorphic adenomas (PA). MATERIALS & METHODS: Seven WT and seven PA were examined. DCE- and  DW-MRI parameters were extracted from volumes of interest; volume of interest-based averages and standard deviations were calculated. Statistical analysis included: linear discriminant analysis, receiver operating characteristic curves, sensitivity and specificity. RESULTS: No single feature was able to differentiate WT by PA (p > 0.05); linear discriminant analysis analysis showed that a combination of all features or combinations of feature pairs (namely: Ktrans(std) & f(std), Ktrans(std) & D(std), kep(std) & D(std), MRE(av) & TTP(av)) might achieve sensitivity (SENS), specificity (SPEC) = 100%, with a slight reduction after cross-validation analysis (SENS = 0.875; SPEC = 1). CONCLUSION: Although preliminary and not conclusive, our results suggest that differentiation between WT and PA is possible through a multiparametric approach based on combination of DCE- and DW-MRI parameters.

Chronic amastigote-negative cutaneous leishmaniasis: A clinical, histopathologic and molecular study of 27 cases with emphasis on atypical and pseudolymphomatous presentations.

BACKGROUND: Chronic amastigote-negative cutaneous leishmaniasis (CL) is a diagnostic challenge, as the parasite load may be low, or absent in biopsy tissue sections. METHODS: A series of consecutive biopsy specimens, taken from 130 patients with a diagnosis of granulomatous dermatitis of unknown etiology, were reviewed. Polymerase chain reaction (PCR) was carried out for Leishmania-specific DNA. RESULTS: A total of 27 of 130 samples were positive for Leishmania-specific DNA. In only 3 patients was a clinical diagnosis CL made. The lesions were, single or multiple nodules or plaques of many months duration. Histopathologically, a tuberculoid granulomatous dermatitis was the least common denominator in every case, whilst in 5 cases a heavy lymphoid component was predominant. One patient had a concurrent cutaneous marginal zone lymphoma (MZL), the additional PCR study showed the presence of Leishmania DNA in tissue. CONCLUSIONS: The results of this study expand on previous observations as to the deceptive clinicopathologic manifestations of chronic CL, confirming the diagnostic value of PCR analysis for Leishmania DNA in unspecified granulomatous dermatitides. We also suggest that, in countries where Leishmaniasis is endemic, PCR for Leishmania-specific DNA be performed in any idiopathic pseudolymphomatous. More compelling evidence as to whether chronic Leishmania infection is implicated in the pathogenesis of some cutaneous MZL is warranted by further studies.

HIV-Related Oral Mucosa Lesions: A Cross-Sectional Study on a Cohort of Italian Patients.

BACKGROUND: Human immunodeficiency virus (HIV) infection can be associated with oral mucosal diseases, including oral candidiasis and HPV infection, which are putative indicators of the immune status. AIM AND METHODS: This retrospective cross-sectional study was aimed at assessing the prevalence of HIV-related oral mucosal lesions in a cohort of Italian HIV+ patients regularly attending the Clinics of Infectious Diseases. RESULTS: One hundred seventy-seven (n = 177) patients were enrolled and 30 (16.9%) of them showed HIV-related diseases of the oral mucosa. They were mainly found in male patients over 35 years old, undergoing Combination Antiretroviral Therapy (cART), and with CD4+ count < 500/µL. Oral candidiasis was the most common HIV-related oral lesion. No significant correlations could be detected between the prevalence of HPV infection and other clinical parameters (lymphocyte count, cART treatment and viral load). CONCLUSIONS: HIV-related oral mucosal diseases can correlate with immunosuppression. Early diagnosis and management of oral lesions in HIV+ patients should be part of the regular follow-up, from a multidisciplinary perspective of collaboration between oral medicine and infectious disease specialists, in an attempt to reduce morbidity due to oral lesions and modulate antiretroviral therapy according to the patient's immune status.

Histological findings on jaw osteonecrosis associated with bisphosphonates (BONJ) or with radiotherapy (ORN) in humans.

OBJECTIVE: To describe the histological features of bone tissue harvested from patients affected by jaw osteonecrosis associated with bisphoshponates (BONJ) or with radiotherapy (ORN), in undecalcified ground sections. MATERIALS AND METHODS: Sixteen bone tissue samples from 14 patients with BONJ and two patients with ORN were processed in order to obtain both ground, undecalcified sections and decalcified sections. The sections underwent histometric and morphometric analysis. RESULTS: Bone tissue samples obtained from patients with BONJ or ORN of the jaws shared some histological characteristics. Common histological features included the loss of bone architecture, the absence of a proper Haversian system and proper marrow spaces, the presence of necrotic spots of non-mineralized tissue, areas of empty osteocytic lacunae next to areas of hypercellularity, the presence of resorption pits with rare osteoclast-like cells and the presence of bacteria and of an inflammatory infiltrate. A violet rib of tissue characterized by large resorption pits facing was frequently observed between the mineralized bone and the inflammatory infiltrate. CONCLUSIONS: The histological features of BONJ and ORN are similar and resemble those of osteomyelitis. Even though it is not clear whether infection is the cause or consequence of bone exposure, inflammatory cells, bacteria or their products may have a massive, direct lytic effect on bone tissue challenged by bisphosphonates.

Successful staged hip replacement in septic hip osteoarthritis in osteopetrosis: a case report.

BACKGROUND: Osteopetrosis is a rare, inherited, bone disorder, characterized by osteosclerosis, obliteration of the medullary cavity and calcified cartilage. The autosomal dominant form is compatible with a normal life span, although fractures often result from minimal trauma, due to the pathologic nature of bone. Osteomyelitis is common in patients with osteopetrosis because of a reduced resistance to infection, attributed to the lack of marrow vascularity and impairment of white cell function. Only one case of osteomyelitis of the proximal third of the femur has been previously reported, treated with several repeated debridements and finally with femoral head resection. Here we present for the first time a case of a staged implant of a cementless total hip prosthesis for the treatment of a septic hip in femoral neck nonunion in osteopetrosis. CASE PRESENTATION: A 36-years-old woman, affected by autosomal dominant osteopetrosis was referred to our department because of a septic hip arthritis associated with femoral neck septic non-union, with draining fistulas. The infection occurred early after a plate osteosynthesis for a closed perthrocanteric fracture of the femur and persisted in spite of osteosynthesis removal, surgical debridement and external fixation. In our hospital the patient underwent accurate debridement, femoral head and greater trochanter resection, preparation of the diaphyseal intramedullary canal and implant of an antibiotic-loaded cement spacer. The spacer was exchanged after one month, due to infection recurrence and four months later, a cementless total hip arthroplasty was implanted, with no clinical and laboratory signs of infection recurrence at two years follow-up. CONCLUSIONS: In case of hip septic arthritis and proximal femur septic non-union, femoral head resection may not be the only option available and staged total hip arthroplasty can be considered.

Stop Calling Me Cavernous Hemangioma! A Literature Review on Misdiagnosed Bony Vascular Anomalies.

Vascular malformations of the bone most often involve the cranio-facial area. Even in relevant peer reviewed journals, venous malformations are often misdiagnosed as "hemangiomas" or "angiomas" of the bone. By reviewing literature from the past 5 years (2013-2018), we found many reports of vascular malformations of the bone where the diagnosis was incorrect. Unfortunately, there is still much confusion in understanding and/or diagnosing vascular malformations, despite the fact that in recent years many papers tried to clarify this topic. The purpose of this article is to make a review of the scientific literature concerning vascular malformations of the bone which have been reported as angioma, hemangioma, or hemangioendothelioma, and have been published between January 2013 to October 2018. Clinical features, imaging and histologic reports contained in the papers were reviewed. Subsequently, after reviewing every single paper we reclassified the diagnosis according to the 2018 ISSVA classification. Almost all of the vascular anomalies presented in the reviewed papers as angiomas, hemangiomas, or hemangioendotheliomas were venous (mostly) or arteriovenous malformations. Therefore, only 8 out of 58 papers (14.7%) had an accurate diagnosis. Interestingly, all of the papers reporting cavernous or capillary hemangiomas were actually presenting venous malformations. Making a correct diagnosis is of primary importance because depending on the type of vascular anomaly, the treatment and the prognosis for the patient are very different. Everyone who approaches or describes a vascular anomaly of the bone should know and should adopt a correct and updated nosography.

Schwann cell hamartoma: case report.

BACKGROUND: Colorectal polyps of mesenchymal origin represent a small percentage of gastrointestinal (GI) lesions. Nevertheless, they are encountered with increasing frequency since the widespread adoption of colonoscopy screening. CASE PRESENTATION: We report a case of a small colonic polyp that presented as intramucosal diffuse spindle cell proliferation with a benign cytological appearance, strong and diffuse immunoreactivity for S-100 protein, and pure Schwann cell phenotype. Careful morphological, immunohistochemical and clinical evaluation emphasize the differences from other stromal colonic lesions and distinguish it from schwannoma, a circumscribed benign nerve sheath tumor that rarely arises in the GI tract. CONCLUSION: As recently proposed, this lesion was finally described as mucosal Schwann cell hamartoma.

Rapid, progressive neuropathic arthropathy of the hip in a patient co-infected with human immunodeficiency virus, hepatitis C virus and tertiary syphilis: case report.

BACKGROUND: Syphilis is a chronic infection that is classified into three stages. In its tertiary stage, syphilis spreads to the brain, heart and other organs; the lesions may involve the skin, mucous membranes and bones. Neuropathic arthropathy associated with tertiary syphilis has rarely been described in Europe and its association with HIV-HCV co-infection has not been reported so far.This article reports the case of a man with tertiary syphilis presenting with rapidly evolving neuropathic arthropathy of the hip and extensive bone destruction. CASE PRESENTATION: On initial presentation, the patient complained of progressively worsening left-sided coxalgia without localized or generalized inflammation. The patient reported to have no history of previous infections, trauma or cancer. Plain x-ray films of the left coxofemoral joint showed marked degeneration with necrosis of the proximal epiphysis of femur and morphological alterations of the acetabulum without protrusion. Primary coxarthrosis was diagnosed and hip arthroplasty was offered, but the patient declined treatment. Three months later, the patient presented a marked deterioration of his general condition. He disclosed that he was seropositive for HCV and HIV, as confirmed by serology. Syphilis serology testing was also positive. A Girdlestone's procedure was performed and samples were collected for routine cultures for bacteria and acid fast bacilli, all resulting negative.Although histological findings were inconclusive, confirmed positive serology for syphilis associated with progressive arthropathy was strongly suggestive of tertiary syphilis, probably exacerbated by HIV-HCV co-infection. The patient partially recovered the ability to walk. CONCLUSIONS: Due to the resurgence of syphilis, this disease should be considered as a possible cause of neuropathic arthropathy when other infectious causes have been ruled out, particularly in patients with HIV and/or HCV co-infection.

Secondary undifferentiated pleomorphic sarcoma of the mandible in a HIV patient who underwent radiotherapy for oral carcinoma.

Undifferentiated pleomorphic sarcoma (UPS), also defined malignant fibrous histiocytoma (MFH), is one of the most common sarcomas affecting soft tissues in adults, but it can also arise as a primary tumor in bone. UPS is extremely uncommon in the lower jaw and presents very aggressive clinical behavior with high rate of local recurrences and frequent metastases. Secondary UPS are even rarer than primary forms, and they are usually closely associated with local trauma or radiotherapy. This case report aims at illustrating a rare case of secondary UPS of the mandible in an 81-year-old male affected by HIV, maxillary oral squamous cell carcinoma (and mandibular recurrence), and who underwent head and neck radiotherapy. The complete immunohistochemical pattern of the lesion is reported. Due to his medical history and systemic status, the patient has been considered not eligible for further surgical procedures nor radiotherapy. Therefore, a palliative care treatment has been scheduled.

An Unusual Histology for a Lung Nodule: A Case Report of Primary Pulmonary Paraganglioma.

Introduction: Primary pulmonary paraganglioma is a rare tumor with few cases reported in literature and unspecific clinical presentation. Case Presentation: A 49-year-old woman presented to our department with an incidental finding of a pulmonary mass at chest X-ray and no associated clinical symptom. The CT scan and the FDG-PET showed mild uptake of contrast, but a definitive diagnosis was only possible after surgery through histopathological examination. Conclusion: Paragangliomas originating in the pulmonary tissue are generally non-functioning masses discovered incidentally in otherwise asymptomatic patients. Surgery appears to be the best treatment option, with only radiologic follow-up necessary afterwards.

Case Report: Multidisciplinary Approach for a Rare Case of Thymic Vascular Malformation.

We report the rare case of a 2.5 cm in size mass diagnostic for residual thymus associated with venous vascular malformation (ISSVA classification, 2008) in a 58 years old man. Diagnosis was obtained only after surgical removal that was complicated by a sudden massive bleeding (about 1,500 cc) requiring emergency conversion to median sternotomy. Difficulty in preoperative diagnosis, rarity of histologic pattern, and surgical challenges make this case very interesting for surgeons, pathologists and radiologist. Our message, dealing with mediastinal masses, is: (a) differential diagnosis between the more frequent solid antero-superior mediastinal tumors and vascular malformation should be always considered (b) preoperative angiography should always be performed in case of uncertain diagnosis (c) coil embolization should always be considered to reduce potentially fatal bleeding (d) histologic differentiation with other thymic neoplasms must be always considered.

CD10 and CD34 as markers in vascular malformations with PIK3CA and TEK mutations.

AIMS: Vascular malformations (vMs) encompass a wide range of diseases often associated with somatic or, more rarely, germinal genetic mutations. A mutation in the PIK3Ca/mTOR pathway is more often involved in various vMs. CD10 and CD34 are cellular markers that may play a role in mesenchymal differentiation and proliferation. The aim of our study was to find a possible link between the immunohistochemical expression of CD10 and CD34 in vMs and their relationship with mutations in the PIK3CA/mTOR signaling pathway. METHODS AND RESULTS: Our study on 58 samples of vMs showed that in endothelial cells, CD10 was significantly expressed in PIK3CA-mutated samples compared with samples without any mutation (p < 0.05), especially and even more consistently when compared with samples with mutation in other pathways (p < 0.0001). Conversely, in the same PIK3CA-mutated samples, CD34 expression in endothelial cells was significantly reduced compared with samples either without any mutation or mutations in other pathways (p < 0.05 and p < 0.0005). Compared with samples with mutations in other pathways, a significant overexpression of endothelial CD10 was also found in samples with TEK/TIE2 mutation, a gene linked to the PIK3CA/mTOR pathway (p < 0.01). However, CD34 expression was not altered. In samples with PIK3CA mutation, the CD10 expression was significantly increased in the stroma compared with samples with TEK/TIE2 gene or other gene mutations (p < 0.05). CONCLUSION: Therefore, the CD10 and CD34 immunohistochemical profile could suggest/support the presence of mutations in the PIK3CA/mTOR pathway in samples of vMs.

Actinomycosis of the Tongue: A Case Report and Review of Literature.

Background: Actinomycosis of the tongue is an uncommon, suppurative infection of lingual mucosa, caused by actinomyces. The clinical diagnosis may present serious difficulties because of its ability to mimic other lesions, including both benign and malignant neoplasms. Methods: Here, we describe the case of a 52-years-old patient affected by an asymptomatic, tumor-like tongue swelling, then diagnosed as actinomycosis. A review of tongue localization of actinomycosis is also reported, with emphasis on clinical findings and therapy. Results and Conclusion: Early diagnosis and treatment, with pus drainage and systemic antibiotic therapy, are pivotal to avoid severe and life-threatening complications.

Calciphylaxis in a dialysis patient treated by intralesional and systemic sodium thiosulphate on top of multifactorial intervention.

Calciphylaxis, or calcific uraemic arteriolopathy (CUA), represents a life-threatening disease. Dialysis patients and those receiving warfarin are seen as populations at higher risk for CUA. Treatments for CUA are still uncertain despite the poor survival of the disease. Administration of intravenous sodium thiosulphate (STS) has been purposed to treat CUA in dialysis patients. Due to the poor tolerability of STS, characterized by nausea, hypocalcaemia, metabolic acidosis and QT-interval prolongation, its intralesional administration has been reported. We herein present the improvement of wounds in a haemodialysis patient affected by CUA, treated by multipronged intervention including both intravenous and intralesional STS.