Andrea Panunzi

Misdiagnosis of plexiform neurofibroma of the medial plantar nerve: case report.

Plexiform neurofibromas are benign tumors of the peripheral nerve. Diagnosis may be challenging, if they present mimicking other peripheral nerve pathologies. We report the case of a patient who had severe foot pain, which progressively hampered her walking ability, erroneously attributed to recurrent Mortons neuroma. Diagnosis of plexiform neurofibroma of her right medial plantar nerve was made 15 years after the appearance of symptoms. Pain and function recovered after radical neurotomy of the medial plantar nerve. A correct diagnosis is an essential starting point in the treatment of neurofibromas and a misdiagnosis may lead to an inappropriate treatment.

Unexpected granular cell tumor in abdominal wall: Case report and literature review

Granular cell tumors (GCTs) are uncommon benign neoplasms deriving from Schwann cells of the peripheral nerve fibers. Although these tumors can be found anywhere in the body, the most frequent site is the tongue, followed by the chest wall and the arm. The abdominal wall is an extremely rare site for GCTs. These tumors are generally asymptomatic and have a slow growth rate. Today, thanks to their immunoreactivity to S-100 and CD68, the differential diagnosis is more straightforward than in the past. We report on a young patient affected by a GCT located in the upper third of the right rectus abdominis muscle. En bloc excision through a diamond-shaped skin incision allowed us to make a correct histological diagnosis, which was confirmed by the immunohistochemical findings. GCT, which is very rare in abdominal wall muscles, should be considered in the differential diagnosis, and surgical excision is the treatment of choice.

Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.

BACKGROUND Familial spinal neurofibromatosis is a form of neurofibromatosis 1 (NF1), consisting of extensive, symmetrical, histologically proven, multiple neurofibromas of the spinal roots at every level and of all major peripheral nerves sometimes associated with typical NF1 stigmata; most cases underlie NF1 gene mutations. OBJECTIVES The objectives of this study are (1) to report the findings in a set of 16-year-old monozygotic twin girls and a 14-year-old boy and (2) to review the existing literature. METHODS AND RESULTS In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy (twins, aged 4 years; and a boy, aged 9 years) associated with massive, symmetrical neurofibromas; (2) had few café-au-lait spots with irregular margins and pale brown pigmentation; (3) were presented with, at brain magnetic resonance imaging (MRI), bilateral, NF1-like high-signal abnormalities in the basal ganglia; (4) yielded missense NF1 gene mutations in exon 39; and (5) had unaffected parents with negative NF1 genetic testing as well as discuss 12 families and 20 sporadic and 5 additional cases that presented spinal neurofibromatosis within classical NF1 families (53 cases) that were reported in the literature. CONCLUSIONS This article presents the first report on (1) spinal neurofibromatosis in a set of affected monozygotic twins; (2) the earliest onset of the disease; and (3) the occurrence of high signal lesions in the brain at MRI.

Breast mondor’s disease: Diagnosis and management of six new cases of this underestimated pathology

Mondor’s disease is an unusual and little-known pathology of the breast, characterized by superficial thrombophlebitis. The causes are still unresolved. Most of the patients do not fall under case studies of the scientific literature, given the reported incidence rate between 0.5% and 0.8%. The Mondor’s disease patients are not always properly identified, and they are frequently treated as outpatients, even considering the benign course of the disease which often spontaneously resolves without any medical therapy. We report here six new cases of Mondor’s disease, two of them were likely due to a trauma and were easily resolved with the use of non-steroidal anti-inflammatory drugs; the third one was apparently due to the stretching of the mammary veins in a patient with gigantomastia; the fourth one was subsequent to hormonal stimulation for in vivo fertilization and following gestation; and the last two cases (one was a man) were diagnosed after undergoing surgery for breast carcinoma.

Microsurgical approach for unusual and unexpected malignant fibrous histiocytoma of the forearm: A case report

Soft tissue sarcomas are rare tumors with a dismal prognosis. Among the most common histological types of sarcomas of the extremities, malignant fibrous histiocytoma (MFH) is the one with the highest incidence. Surgery is considered to be the first choice of treatment for MFH. To the best of our knowledge, this is the first case report in the literature of a patient with MFH within the abductor pollicis longus (APL) muscle. This unusual location was also unexpected by the treating surgeons, as the preoperative magnetic resonance imaging localized the tumor inside a different muscle. A 79-year-old Caucasian man presented with a swelling in the middle third of the dorsal aspect of the left forearm. MFH was diagnosed following biopsy and instrumental diagnostic examinations. Surgical excision and simultaneous reconstruction was performed by the same microsurgical team, achieving an excellent functional outcome. The present case highlights the significance of microsurgical approach for improving strategic planning in oncologic surgery. Accurate surgical dissection, performed by a team of microsurgeons, allowed for the identification of the unusual and unexpected tumor localization within the APL muscle. For this reason, a change of surgical strategy allowed for preservation of the extensor digitorum communis muscle, which would otherwise have to be resected, with tendon transfer and successful restoration of the thumb abduction function.