Venous malformations in children: comparison between magnetic resonance imaging and histopathological findings.

BACKGROUND: Among low-flow vascular malformations, venous malformations are relatively frequent. The pathological patterns vary in severity and are generally characterized by dilated vessels and low-flow blood that over time can organize into phleboliths. Sometimes small capillary and/or lymphatic vessels may be associated, micro- and/or macro-shunts may form alone or in different combinations, and finally adipose tissue may be interposed between the malformed vessels. Magnetic resonance imaging (MRI) is a crucial examination for confirming venous malformations because it can accurately identify different features of the lesions. OBJECTIVE: The aim of our study was to compare MRI and histopathological findings of venous malformations in children to assess the possibilities and limitations of MRI. MATERIALS AND METHODS: In a retrospective study, two observers independently evaluated the contrast-enhanced MRI of 26 children with venous malformations. Several radiological parameters were considered and compared with histopathological findings. The agreement between the interobserver radiological evaluation and between histopathological and radiological diagnosis was verified using Cohen's kappa. RESULTS: MRI interobserver agreement was excellent for micro-shunts and good for the remaining findings. The radiological-pathological agreement was perfect for the presence/absence of phleboliths and of macro-shunts and almost perfect for the presence of intralesional adipose tissue, lymphatic component, and micro-shunts. CONCLUSION: MRI in venous malformations can detect the presence of phleboliths, adipose tissue, and lymphatic components with excellent accuracy and good to excellent interobserver agreement. Furthermore, MR angiography can detect micro-shunts in simple and combined venous malformations with substantial agreement with histopathological findings.

Procedures and operating instructions for diagnosis in vascular anomalies and pathology.

In the last 30 years a revolution has occurred in the diagnosis and management of vascular anomalies. The great changes began with Mulliken and Glowacki separation of hemangiomas and vascular anomalies. Their work has now morphed into the ISSVA classification. Subsequently the discovery of the significance of the presence of GLUT-1 in the diagnosis of the hemangiomas of infancy gave us a new marker in our quest for accurate classification. Now the genetic breakthroughs have led us into a "Star Wars" like environment in the experimental laboratory. During all these events the critical role of the pathologist has become more evident. Understanding the histopathology of anomalies has greatly aided in our approach to therapies. Moreover, genetic findings do not have full significance without the morphologic framework.

Oral melanoma with osteocartilagineous differentiation: a case report and literature review.

Osteocartilagineous differentiation within malignant melanoma is a rare occurrence with several implications for diagnosis. Most of the reported cases have occurred in acral lentiginous malignant melanomas. In this paper, the authors describe the clinical, morphological, immunohistochemical features and surgical treatment of a case of primary oral mucosal melanoma with osteocartilaginous differentiation and they review the existing literature. The clinical history of a 67-year-old man affected of oral malignant melanoma was described from the first presentation to the second recurrence. FISH analysis on primary lesion and on relapses showed positive results both in epithelioid and in osteocondroblastic areas. Because of the scarcity of literature in osteogenic melanoma, histological identification may be problematic and prognostic factors and therapeutic protocols are nor well established. Immunohistochemical and molecular techniques can help to diagnosis this rare lesion.

Head and neck vascular anomalies. A multidisciplinary approach and diagnostic criteria.

Vascular anomalies represent a heterogeneous group of pathologies of the circulatory system that can affect any type of hematic and /or lymphatic vessel of different diameter or anatomic site. The extreme variability of tissue types and districts involved by these lesions determines a wide heterogeneity of clinical manifestations, resulting in involvement of different medical expertise. In this context, a commonly agreed terminology is crucial for the appropriate evaluation and multidisciplinary management of patients. The ISSVA Classification that has its roots in the previous Classification of Mulliken and Glowacky distinguishes vascular anomalies in two main groups: vascular tumors and vascular malformations. In head and neck, where vascular anomalies are the most common benign lesions of infancy and childhood, correct diagnosis with the use of unequivocal terminology is more crucial for treatment considering the relevance of structures that can be involved. The aim of this work has been to clarify information and knowledges currently available in the field of vascular anomalies. Referring to ISSVA Classification, clinico- histopathological aspects of each entity have been elucidated.

Pigmented villonodular synovitis of temporomandibular joint: pathological aspects and surgical treatment.

Pigmented villonodular synovitis (PVNS) is an uncommon, benign, tumour-like disorder of unknown etiology affecting synovium-lined joints, tendon sheaths, and bursae. It results in proliferative, locally invasive lesions, usually presenting in monoarticular form in adults. PVNS rarely presents in the temporomandibular joint (TMJ). The treatment of choice is complete surgical excision of the lesion, followed by immediate reconstruction. We report a case of PVNS with masticatory space involvement, and focus on the pathological aspects and surgical treatment of the lesion.

A rare case of transmural endometriosis in primary adenocarcinoma of the rectum.

Intestinal endometriosis of the rectum and sigmoid colon, occurring in up to 34% of pelvic endometriosis, mimics a wide number of conditions that are difficult to differentiate from inflammatory or malignant diseases. Herein we report the first case of transmural endometriosis concomitant with advanced primary rectal adenocarcinoma, presenting with obstructive symptoms. Correct diagnosis based on morphological identification and immunohistochemical characterization of the two entities is crucial for treatment.

Clinically and/or histologically pigmented poromas in Caucasian patients.

AIM: Pigmented poromas are rarely reported and considered to be more common in non-white people and on non-acral sites. Objective of the present study was to report our cases of pigmented poromas with particular attention to the presence of clinical and/or microscopic evidence of pigmentation, their characteristics and the diagnostic pitfall with other pathologies. METHODS: All the histologically confirmed poromas observed from January 1994 to July 2012 were considered. Clinic-epidemiological data were collected. The presence of clinical pigmentation was recorded as well as the presence of melanin pigmentation or melanocytes in the histologic specimens. RESULTS: One hundred and one patients with poromas were collected. All the patients were Caucasians. All the lesions were solitary. Only three patients had a clinically visible pigmented poromas. In eight cases the presence of melanin and melanocytes did not produce a clinically visible pigmentation. All the poromas with pigmentation did not occur on palmo-plantar surfaces. CONCLUSION: Pigmented poromas may be observed even in Caucasian patients and their clinical aspect mimic basal cell carcinoma and/or melanoma. The presence of pigment visible at the histology may not be observed in the clinical expression. The absence of pigmentation on palmo-plantar location is confirmed in all the reported cases.

Observational study on the mitotic rate and other prognostic factors in cutaneous primary melanoma arising from naevi and from melanoma de novo.

BACKGROUND: Melanomas can arise from naevi or appear de novo. The frequency or the effect of their origin on prognosis is still debated. Mitotic rate (MR) and ulceration of melanomas have been proposed as further new prognostic indexes. AIM: To determine the different prognostic factors in melanomas de novo and melanomas from pre-existing naevi and whether these two melanoma groups have different MR or presence of ulceration. METHODS: All patients with confirmed primary melanomas observed in our clinic from 1996 to July 2013 were included. The distinction between the two groups of melanomas was histologically based. We compared Breslow's thickness, the number of mitosis/mm(2) and the presence of ulceration between the naevus-associated melanoma and de novo melanoma group. RESULTS: Of the 873 melanomas, 626 (71.8%) have a de novo melanoma, 247 (28.2%) a naevus-associated melanoma. Breslow's thickness was not significantly different in the two groups (0.77 ± 1.47 mm vs. 0.59 ± 1.35 mm). The number of patients with presence of ulceration and MR ≥1 mitosis/mm(2) was not significantly different in the two groups (19.6% vs. 16.3%). In thicker melanomas (Breslow's thickness ≥ 1 mm), the number of patients with ≥6 mitosis/mm(2) was significantly higher (26.6% vs. 7.9%; P < 0.05) in the de novo melanoma group. CONCLUSIONS: When mitosis ≥ 1 mm/mm(2) , the results obtained do not show a better or worse prognosis based on Breslow's thickness, ulceration and MR in melanomas associated with naevus vs. melanomas de novo. When ≥6 mitosis/mm(2) are considered, the number of patients in the de novo melanoma group with thick melanoma is highly more represented. The debate about the cut-off value of mitosis ≥1 mm(2) is open.

Unusual sites for poromas are not very unusual: a survey of 101 cases.

BACKGROUND: Poromas are benign adnexal tumours generally believed to be of eccrine origin, which usually develop on palmoplantar sites. However, it is thought that a percentage of poromas develop on non-palmoplantar or 'unusual' sites. AIM: To review cases of poromas with reference to their clinicoepidemiological characteristics, paying particular attention to the those located on sites other than the palms and soles. METHODS: All histologically confirmed poromas seen at our department between 1994 to 2012 were reviewed. The clinicoepidemiological data recorded included age at diagnosis, gender, location, size, colour, and preoperative and pathological diagnoses. RESULTS: In total, 101 poromas were reviewed, corresponding to 0.0058% of all the epithelial skin tumours biopsied in our department. The mean age was 65.05 years (range 30-100 years), and the male to female ratio was 1.52. All the lesions were solitary and asymptomatic, with no sign of bleeding. The most common presentation was a red or reddish lesion, particularly at palmoplantar sites, where 33 (32.7%) of the 101 poromas were located, Poromas found at other affected sites were more usually skin-coloured, and these lesions included 7 neoplasms located in the armpits and 18 on the head and neck. The correct preoperative diagnosis was made in 12 cases of 33 detected poromas (36%), all of which were localized to the palmoplantar surfaces. CONCLUSIONS: Based on our experience, we consider that there are no 'unusual' sites for poromas, and palmoplantar poromas were in fact in the minority. Furthermore, some localizations suggest derivation of these palmoplantar poromas from the folliculosebaceous apocrine unit.

Role of biopsy in low-grade laryngeal chondrosarcoma: report of two cases.

Laryngeal chondrosarcomas are rare tumours that account for less than 1% of all sarcomas and originate principally from the crycoid cartilage. We report two cases: the former arising from thyroid cartilage in an 85-year-old male presenting with a palpable neck mass and hoarseness, dyspnoea and dysphagia; the other in a 54-year-old male with a mass growing from crycoid cartilage, who underwent biopsy followed by total laryngectomy. We discuss the peculiarity of the site of origin and the role of biopsy, the clinical presentation of the former case and the diagnostic and therapeutic procedures of the latter. Since it is a rare form of sarcoma arising in the larynx, we discuss the role of biopsy as a crucial although still controversial diagnostic tool.

Primary extra-cranial meningioma of head and neck: clinical, histopathological and immunohistochemical study of three cases.

Extracranial meningiomas of the head and neck region are rare neoplasms, the majority being a secondary location of a primary intracranial tumour. We herewith report three rare cases of extracranial meningiomas, located in the temporal muscle, parotid gland and nasal cavity, together with complete pathological, immunohistochemical and ultrastructural studies. Prognosis of this tumour is generally excellent. Surgical excision is the treatment of choice, with no need for further treatment; nevertheless, differential diagnosis must consider other more common tumours of the head and neck and be based on histopathologic examination and relative techniques, including examination of frozen sections. This procedure is particularly useful assessing surgical treatment and should be performed whenever possible to exclude the malignant nature of the lesion and avoid over-treatment. All three patients underwent surgery and are alive and disease-free.

Margin involvement and clinical pattern of basal cell carcinoma with mixed histology.

BACKGROUND: Mixed basal cell carcinoma (BCC) has not been sufficiently and specifically studied. OBJECTIVE: The aim of this study was to estimate in adults the prevalence of mixed cases observed among primary BCCs and to compare clinical and anatomical features of mixed vs. single BCCs, with focus on the incomplete excision. PATIENTS AND METHODS: A total of 3636 histologically confirmed primary BCCs were examined. Data on gender, age, histological subtype, anatomical location and margin involvement were collected. Mixed type was defined as a combination of two or more single subtypes. RESULTS: Prevalence of single and mixed BCCs was 82.2% and 17.8% respectively. Prevalence of BCCs on the upper limbs was higher in mixed than single cases (8.8% vs. 4.0%; P<0.001) while prevalence on the back was lower (16.9% vs. 23.7%; P<0.001). Tumour was aggressive in 59.1% of mixed vs. 16.0% of single BCCs (P<0.001). Margin involvement was more prevalent in mixed than in single BCCs (16.7% vs. 9.6%; P<0.0001). At multivariate analysis being mixed vs. single BCC was associated with aggressiveness of tumour (OR=8.5, 95% CI, 6.9-10.4), lateral margin involvement (OR=1.98, 95% CI, 1.42-2.76) and subject being man (OR=1.31, 95% CI, 1.10-1.60) but not with deep involvement of margin or anatomical location. CONCLUSION: Among BCCs, the mixed type may be observed in adults with relatively high rate and may represent a complex and individual subset of BCCs with potential aggressive behaviour.

Axillary basal cell carcinoma: additional 25 patients and considerations.

BACKGROUND: Axillary basal cell carcinoma represents a rarely described occurrence in world literature. OBJECTIVE: To report our 14 years' experience of axillary basal cell carcinomas. METHODS: A review of Pathology department database is given. RESULTS: Twenty-five further patients with axillary basal cell carcinomas of 7367 basal cell carcinomas diagnosed are reported. These represent a percentage of 0.33%.The average age of patients was 64.96 years, not significantly different from the average age of patients with overall basal cell carcinomas. No patient had had previous radiant or immunosuppressive treatment or axillary sunburn. No patient had basal cell naevus syndrome. The subtypes involved were superficial and nodular. No patient of 17 patients followed up had recurrences or metastasis after 5 years of follow-up. CONCLUSION: Axillary Basal cell carcinomas are rare. No particular predisposing or risk factor is recorded. They do not seem to be significantly more aggressive than other basal cell carcinomas.

Spindle and/or epithelioid cells nevi in pediatric age: are they different from those of adults? A clinical review of 187 cases.

AIM: Spindle and/or epithelioid cells nevi represent the spectrum of a clinico-pathologic entity with different characteristics. Aim of the study is to provide information about the differences in characteristics of these nevi for different groups of age. METHODS: Two different groups are considered: younger than 15 years and older than 15 years. An analysis of 187 spindle and/or epithelioid cells nevi was performed. Forty-five pediatric patients (24 males and 21 females) and 142 adult patients (44 males and 98 females) were examined. Age, sex, type of nevus, location, clinical characteristics were evaluated. RESULTS: Spindle and epithelioid cells nevi were observed in 53% of the pediatric and in 45% of adult patients. Female more frequently presented with spindle nevus cell both in pediatric (56%) and in adult (70%) cases. In pediatric patients, the anatomical distribution was prevalent in the areas of the head and neck. Pigmentation was not a distinctive feature of pediatric cases and only interested the spindle and epithelioid cells nevi. The regularity of borders was not a distinctive character for neither of the groups of patients. Uniformity in color occurred more frequently in pediatric patients. CONCLUSION: Spindle and/or epithelioid nevi belong to the same spectrum of pathologies, they behave differently in the different groups of age thus permitting a certain degree of clinical distinction in different age groups.

Late diagnosis of a solitary fibrous tumour of the parapharyngeal space in a continuous positive airway pressure-treated patient.

Solitary fibrous tumours of the parapharyngeal space are a very rare finding and have been described less than 10 times in the English literature. The Authors discuss a clinical case of a solitary fibrous tumour in the parapharyngeal space in a 77-year-old male, who had begun treatment for a newly discovered obstructive sleep apnoea syndrome with a continuous positive airway pressure - device one year prior to diagnosis. This rare location of an uncommon lesion often gives rise to difficulty in diagnosis or to misdiagnosis and the Authors, therefore, made a review of the scientific literature and analysed the diagnostic and therapeutic procedures used. The importance of this report lies mainly in two aspects: on the one hand, the discussion concerning the diagnostic and therapeutic procedures and on the other, the need of a thorough evaluation in obstructive sleep apnoea syndrome patients before treating them with a chronic device like the continuous positive airway pressure device.

Mesenchymal phosphaturic neoplasm in the maxillary sinus: a case report.

The authors describe a case of oncogenic osteomalacia due to a mesenchymal phosphaturic tumour in the maxillary sinus. This is a paraneoplastic syndrome in which a tumour produces a peptide hormone-like substance (phosphatonin) that causes a urinary loss of phosphates resulting in a debilitating systemic condition. In this case, the patient experienced muscle stiffness, reduction of muscle tone, loss of weight and pathological fractures. Clinical and radiological examination revealed a tumour in the right maxillary sinus; all other results were negative. The diagnosis following pathology examination was mesenchymal phosphaturic tumour with a haemangiopericytoma-like vascular pattern. Different histological types of mesenchymal tumours can be associated with paraneoplastic syndrome, but their localization in the paranasal sinuses is rare. The correct diagnosis allows the appropriate therapeutic approach, which can lead to an almost immediate resolution of the clinical situation after surgical removal of the neoplasm as in the present case. Oncogenic osteomalacia is rare, particularly in the maxillofacial region, and only a few cases have been reported.

Microcystic adnexal carcinoma of the centrofacial region: a case report.

Microcystic adnexal carcinoma is a rare, locally aggressive neoplasm with both eccrine and follicular differentiation and a high probability of perineural invasion of the centrofacial region. Given the histopathological features of this tumour, early diagnosis is essential for adequate management. This report refers to a case of microcystic adnexal carcinoma of the nasogenial region, with infiltration of the deep planes extending to the anterior wall of the maxillary sinus. Surgical treatment involved wide demolition of the centrofacial region followed by reconstruction using four locoregional flaps: an Indian flap and a Mustardé flap were used for cutaneous reconstruction; a septal flap to support the maxillogenial region; a mucosal flap to separate the nasal cavities.