Massimo Viviano

Cervical necrotizing fasciitis of odontogenic origin involving the temporal region – A case report

Necrotizing fasciitis (NF) is a soft-tissue infection, usually polymicrobial, that causes necrosis of fascia and subcutaneous tissue while sparing skin and muscle. We report a case of cervical NF complicating dental infection in a 50-year-old woman, who presented with infection involving mucosa of the right mandible and temporal muscle, and masticator spaces, requiring extensive surgery and antibiotic therapy. Prompt diagnosis and immediate aggressive surgical debridement of all compromised tissues are critical to reducing morbidity and mortality in these rapidly progressive infections.

A rare case of osteonecrosis of the jaw related to imatinib

Osteonecrosis of the jaw (ONJ) is commonly described as an adverse effect of the use of bisphosphonates. A few cases of ONJ associated with tyrosine kinase inhibitors (sunitinib, imatinib) have been reported in the literature and usually they occurred in patients simultaneously treated with bisphosphonates. We report an atypical case of ONJ related only to imatinib. A 72-year-old male patient was treated with imatinib for metastases from gastrointestinal stromal tumors (GISTs). The patient developed ONJ after 22 months of imatinib only therapy. During his whole life, the patient had never been treated with bisphosphonates or radiotherapy. Microscope examination of the tissues confirmed the clinical diagnosis of diffuse osteonecrosis and showed absence of neoplastic cells. Thus, secondary localisations from GISTs were ruled out. Osteonecrosis of the lower jaw appeared 22 months after initial and exclusive therapy with imatinib. Therefore, imatinib monotherapy can induce ONJ in patients that have never been treated with bisphosphonates or radiotherapy.

Polydactyly With Ectodermal Defect, Osteopenia, and Mental Delay

Five members from 3 generations, including a 35-year-old woman and her 2 sons, both mentally impaired to a different degree, were studied in a tertiary care hospital. Anamnestic, clinical, neurological, and radiological evaluations were used to describe phenotypes. A and B postaxial polydactyly, transmitted likely as autosomal dominant, was associated with an extensive variability of phenotypic features: (1) cutaneous syndactyly, (2) nail–teeth dysplasia, (3) osteopenia, and (4) mental delay. The likelihood that the constellation of observations we report here is caused by mutation of a single gene that subsequently affects multiple physiological activities, although fascinating, remains to be proven. Instead, we hypothesize that it likely develops as a contiguous gene syndrome.

Hypohidrotic ectodermal dysplasia and intrathoracic neuroblastoma.

Abstract:  We report a 6‐year‐old girl with a subtle form of hypohidrotic ectodermal dysplasia and a phenotype consisting of curly hair, a round face, a stocky build, and obesity, which was associated with intrathoracic neuroblastoma. Although this new association could be a chance occurrence, its description may alert physicians to look for similar combinations and report these, as it may lead to better syndrome delineation, and patient care.

A case of bisphosphonate-related osteonecrosis of the jaw with a particularly unfavourable course: a case report

Bisphosphonates are drugs used to treat osteoclast-mediated bone resorption, including osteoporosis, Paget disease, multiple myeloma, cancer-related osteolysis, and malignant hypercalcemia. The use of these drugs has increased in recent years as have their complications, especially bisphosphonate-related osteonecrosis of the jaw (BRONJ), which more frequently affects the mandible. Here we report a case of BRONJ with a particularly unfavorable course due to cervical inflammation that developed into necrotizing fasciitis, followed by multiorgan involvement leading to septic shock and death.

New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: The future challenge

OBJECTIVE Case study of a CNS impairment lacking in presumptive cause; case presents with a clinical phenotype encompassing multiple differently expressed and combined symptoms, as well as a subtle skin defect. MATERIALS AND METHODS A 6-year-old male with apparently isolated mental delay, speech delay, attention deficit/hyperactivity disorder, epilepsy, and subtle and insignificant skin dyschromias. The patient underwent a systematic evaluation, including clinical history; medical, neurological and ophthalmologic examinations. Skin, teeth, nails, hair and sudation were examined for defects. Routine laboratory tests for blood, urine, were performed. The proband had thyroid function tests, electrocardiography, genitourinary system and abdominal examinations. Special examinations pertaining to mental performance, biochemistry, chromosome studies, imaging and electrodiagnostic studies, and skin biopsy were also performed. RESULTS Investigators ruled out genetic syndromes, congenital infections, fetal deprivation, perinatal insults, intrauterine exposure to drug abuse, and postnatal events such as CNS infections as possible common causes of brain impairment. Being all further test negative, the patient exhibited an ultrastructural defect of the skin, identical to that previously described [Buoni S, Zannolli R, de Santi MM, Macucci F, Hayek J, Orsi A et al. Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vesicular trafficking and melanosome defects. Eur J Neurol 2006;13:842-51], suggesting that some cell compartments, such as rough endoplasmic reticulum, lysosomes, Golgi apparatus, and the vesicular zone (racket) of Birbeck granules, sharing similar components, can be altered, resulting in a common defect in cell trafficking, associated to melanosome defects. CONCLUSIONS This new devasting, ultrastructural phenotype accompanied by apparently unspecific and mixed neurological symptoms should represent a future challenge to finally discover the pathogenesis of many childhood CNS symptoms, that currently seem to lack any apparent cause.

Gingival Leiomyosarcoma in a Young Woman: Case report and literature review

Leiomyosarcoma (LMS) is a rare mesenchymal malignancy, of which 3-10% of cases occur in the head and neck region. We report a 22-year-old woman who was referred to the University Hospital of Siena, Italy, in 2016 with an ostensibly benign asymptomatic lump on the mandibular gingiva. The lesion grew rapidly, causing otalgia in the right ear. An excisional biopsy was performed and primary LMS was diagnosed histologically. Subsequently, the patient underwent radical re-excision of the perilesional mucosa, a partial bone resection and the extraction of four teeth. No recurrences or metastases were detectable at a 20-month follow-up. This report discusses the differential diagnosis of LMS with regards to other benign and malignant lesions and reviews the recent literature on primary and secondary oral LMS. Due to its innocuous clinical features-including its asymptomatic nature and presentation at a young age-this aggressive malignancy can go undetected; therefore, an early histopathological diagnosis is crucial.

Multiple brain abscess after professional tooth cleaning: case report and literature review

Brain abscess (BA) is an encapsulated infection and can be the consequence of head and cranio-maxillo-facial surgery or trauma, or may be secondary to cavernous thrombophlebitis, but is most frequently due to hematogenous septic dissemination from an adjacent site of infection, such as the paranasal sinuses, middle ear or oral cavity. We report a rare and unfortunate case of multiple BA caused by dental procedures in a young man with undiagnosed patent foramen ovale (PFO). Simple routine dental procedures, such as tooth brushing and professional oral hygiene, can predispose to life-threatening conditions. This case report and literature review highlights that multiple BA after professional tooth cleaning is extremely rare, but cardiac defects (in first place PFO which is a potential source of paradoxical embolism) promote BA formation.

Blastic plasmacytoid dendritic cell neoplasm: a rare case of gingival lesion with leukaemic presentation

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare haematological malignancy with an aggressive clinical course. It has been recognised as a distinct entity in the WHO 2008 classification of haematolymphoid neoplasm. This disease usually presents with cutaneous involvement as the first manifestation, with subsequent or simultaneous spread to bone marrow and peripheral blood with leukaemic dissemination. Gingival lesion as the first manifestation, in the absence of a cutaneous lesion, is an uncommon presentation of this rare disease. We report a case of an elderly woman, aged 84 years, who presented with a lump on the mandibular gingiva and ipsilateral otalgia without any cutaneous lesion and associated with an highly aggressive and rapid leukaemia. This case is an addition to the handful of those cases of BPDCN which presents without cutaneous involvement, but it is exceedingly rare for clinical features that make it a unique case in the literature.

Stevens-Johnson syndrome and abuse of anabolic steroids

Stevens-Johnson syndrome (SJS) is characterized by mucocutaneous tenderness and typical hemorrhagic erosions, erythema and epidermal detachment presenting as blisters and areas of denuded skin. SJS is often observed after drug use as well as after bacterial or viral infections. Several drugs are at high risk of inducing SJS, but there are no cases in the English literature regarding anabolic steroid use triggering SJS. In our paper, we describe a case in which use of anabolic androgenic steroids (AAS) was associated with SJS. The patient participated in competitive body-building and regularly took variable doses of AAS. Initial symptoms (headache, weakness, pharyngodynia, and fever) were ignored. After a week he presented to the Emergency Department with a burning sensation on the mouth, lips, and eyes. Painful, erythematous, maculopapular, and vesicular lesions appeared all over the body, including on the genitals. During hospitalization, he also developed a cardiac complication. The patient had not taken any drugs except AAS.