Plexiform neurofibromatosis of penis: a rare presentation of type 1 neurofibromatosis

Although more than 100 cases of genitourinary neurofibromas have been reported, only 16 cases of solitary neurofibroma arising in the penis have been reported in English literature. There can be diffuse or localised pelvic involvement in cases of neurofibromatosis and sometimes these masses can extend into and disfigure the external genitalia. We report an unusual case of plexiform neurofibroma arising from penis and review the literature on penile neurofibromas.

Facial Plexiform Neurofibroma excision with sequential muti-layer hemostatic sutures, the novel technique to reduce blood loss

Plexiform neurofibromatosis is an autosomal dominant and is frequently seen at birth. Surgical excision is asociate to facial nerve damage and profussal bleeding. Sequential multi-layered hemostatic sutures is a technique frequently used in our practice for Arterio-veous malfromations (AVM). 15 patiets with facial plexiform neurofibroma were treated from 2004 to 2020 with surgical excision, in all patients the hemifacial area was affected. Although preoperative embolization is well known as a safe technique to reduce intraoperative bleeding, low rates of serious complications were reported as stroke, ischemic attack and necrosis. The multi-layered hemostatic sutures permit to remove piecewise the tumor avoiding dramatically bleeding in all our procedures, and is based on vessel collapse after mechanical ligation. The sequential multi-layer suture and the retrograde disection of the facial nerve in our practice has decresed the average of iatrogenic damage of nerve, and massive bleeding during the excision of the plexiform neurofibroma.

Rare case of giant retroperitoneal sarcoma

Schwannomas are benign nerve sheath tumors. Malignant schwannomas have been reported in literature but they frequently originate from the conversion of plexiform neurofibromatosis rather from the malignant degeneration of a benign schwannoma. Large retroperitoneal schwannomas are extremely rare tumours. They usually reach a large size when they arise retroperitoneally, which might raise suspicion for malignancy. Such tumors predominate in women schwannomas are usually solitary, slow growing and non- aggressive neoplasm usually found in head and neck region. Retroperitoneal schwannomas are usually large size are rare and are difficult to diagnose clinically. Nevertheless, the mainstay of management remains surgical removal and alternatively, the radio-therapy may prove to be effective. This case report of a 55 yrs male is based on such a patient in whom the diagnosis was established with great difficulty and intraoperative findings were something we had never encountered before.

Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1

Background Orbital/periorbital plexiform neurofibroma (OPPN) can compromise physical appearance and visual function. However, the clinical characteristics and NF1 mutation landscape in patients with heritable OPPN have not been reported. Methods The medical charts of 26 Chinese patients with OPPN from 12 families were reviewed. Mutation analysis of the entire coding region and flanking splice sites of the NF1 gene was performed using next-generation sequencing (NGS). Novel NF1 mutations were confirmed by Sanger sequencing. Results Compared to the parental generation, a significantly larger proportion of OPPN patients in the successive generation presented with earlier onset (p = 0.001), amblyopia (p = 0.034), motility disorders (p = 0.009) and bony orbital expansion (p = 0.019). Six novel NF1 mutations were identified in 11 (91.67%) families, including 6 (42.9%) single-base substitutions, 4 (28.5%) splicing mutations, 3 (21.4%) frameshift deletions, and 1 (7.14%) intron mutation. Conclusions The successive generation of OPPN patients presented with earlier onset and exhibited more severe ocular signs than did their parents or grandparents. Special attention should be paid to successive generations of OPPN patients. Considering that 6 mutations were novel, comprehensive NF1 mutation analysis is required or necessary or proposed for genetic counselling.

Plexiform Neurofibroma during Pregnancy, a Case Report from College Teaching Hospital, Kohalpur

Plexiform neurofibromas are rare variant (30%) of neurofibromatosis type 1 (NF-1) in which neurofibromas arise as large deforming masses from multiple nerve endings involving also connective tissues and skin folds. We report a case of 24 years old female, second gravida and one parity with diagnosis of plexiform neurofibromatosis made in previous pregnancy with remission of symptoms after pregnancy and accentuation during second pregnancy with positive pregnancy outcome.