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This is a case report on how an 18 year old had to live with a growth on her back since last twelve years due to lack of medical facilities and taboos associated with these growths in developing nations like India. The girl had stunted growth due to the weight she was carrying and associated deformities in her spine. She was evaluated and finally underwent surgery for the same. Plexiform neurofibromas are tumors of the peripheral nerve sheaths. They occur in people born with genetic disease called neurofibromatosis. They are slow growing tumors and keep on growing with age. They are soft to begin with. There are instances when plexiform neurofibromas have shown rapid growth. Neurofibromas are generally considered benign and not removed until they cause any complication or for cosmetic reasons. We hereby present a case of plexiform neurofibroma which grew to reach a weight of 28 kgs and ended up causing spinal deformities in a young girl. Background: Plexiform neurofibromas are tumors of the peripheral nerve sheaths. They occur in people born with genetic disease called neurofibromatosis. They are slow growing tumorsand keep on growing with age. They are soft to begin with. There are instances when plexiform neurofibromas have shown rapid growth. Neurofibromas are generally considered benign and not removed until they cause any complication or for cosmetic reasons. Methods:. We hereby present a case of plexiform neurofibroma which grew to reach a weight of 28 kgs and ended up causing spinal deformities in a young girl. Results:This is a case report on how an 18 year old had to live with a growth on her back since last twelve years due to lack of medical facilities and taboos associated with these growths in developing nations like India. The girl had stunted growth due to the weight she was carrying and associated deformities in her spine. She was evaluated and finally underwent surgery for the same. Conclusions:in India, the lack of medical facilities and the negligence still met to the girl child is responsible for such humungous growths presenting at the tertiary centres even in the 21st century. It is the need of the hour to work on both these challenges. [ABSTRACT FROM AUTHOR]

Sorafenib is currently one of the recommended treatments for symptomatic patients with desmoid-type fibromatosis (DTF). In this study, we aim to assess the clinical efficacy and tolerability of sorafenib in DTF patients. Patients aged>18 years with a histological diagnosis of DTF and who have received sorafenib were enroled in this prospective observational study. Demographic data, clinical profile, the initial dose of sorafenib, treatment-related toxicities, dose modifications, and responses were recorded. The primary objective was to assess the objective response rate (ORR). The secondary objectives were to evaluate progression-free survival (PFS), tolerability, and adverse effects of sorafenib. Response assessment was based on response evaluation criteria in solid tumours 1.1 criteria. Adverse effects were graded according to National Cancer Institute Common Terminology Criteria for Adverse Events version 5.0 criteria. Time to event was calculated by Kaplan-Meier analysis, and survival was compared by log-rank test. Univariate and multivariable cox regression analysis were used to find independent predictors of relapse. A total of 104 patients were enroled in the study. The median age of the study population was 32 (range, 18–81) years, and 66.35% of patients were females. On response assessment, ORR was 46.1% and stable disease was observed in 31.7% patients. ORR was higher in the appendicular site (51.7%) compared to the abdominal site (27.2%). PFS at 1 and 2 years was 86.6% (79.6–92.7%) and 73.7% (62.4–82.8%), respectively. Two-thirds (66.6%) of patients had already received some form of treatment. At the time of analysis, 70 (67.3%) patients were continuing sorafenib. Only 4.8% stopped sorafenib due to progression, 10.5% due to intolerable adverse effects, and 17.3% due to other reasons. The common treatment-related toxicities were hand-foot skin reaction (HFSR) (89.4%), fatigue (79.8%), alopecia (70.1%), and diarrhoea (48.0%). In the patients with a starting dose of ≥400 mg (48.0% of patients), discontinuation was necessitated in 12% of patients, and further dose reduction was required in 58%, while only about 13% required dose reduction or discontinuation at a starting dose of 200 mg (51.9% of patients). Responses were not compromised due to lower starting doses. Sorafenib has good activity in DTF, but it is associated with significant toxicity. The adverse effect profile is distinct in Indian patients with higher HFSR and alopecia. Due to the high rate of dose reduction/discontinuation with a starting dose of 400 mg, a starting dose of 200 mg may be recommended in Indian patients. • Sorafenib is an effective drug in treatment of symptomatic desmoid-type fibromatosis. • High incidence of toxicities with current recommended dose of 400 mg daily. • Indian patients have a higher risk of hand-foot skin reaction and alopecia. • A lower dose (200 mg daily) is as effective and well tolerated in Indian patients. [ABSTRACT FROM AUTHOR]

This report describes a very rare Dandy-Walker malformation (DWM) associated with neurofibromatosis (NF) and bony defect over torcula emphasizing the role of meticulous follow-up for asymptomatic DWM. The clinical aspects of an adolescent patient with undiagnosed DWM who was asymptomatic until the age of 14 years are being discussed. Computed tomography and magnetic resonance imaging were revealed DWM. To our knowledge, this is the first report from India that describes a patient who has been diagnosed with DWM with associated NF with bony defect over torcula creating a management dilemma. [ABSTRACT FROM AUTHOR]

Introduction: Neurofibromatosis Type 1(NF-1) is an autosomal dominant genodermatosis characterised by Café Au lait Macules (CALMs), multiple neurofibromas, iris Lisch nodules, axillary and inguinal freckling and bony abnormalities. Axillary and inguinal freckling has been considered under the major criteria for diagnosis, however we found unusually high occurrence of hitherto under-reported patterns of freckling in our patients. Aim: To study the patterns of freckling in patients with NF-1. Materials and Methods: A total of 26 consecutive patients presenting with features of NF-1 to the dermatology OPD of a tertiary care centre of eastern India were examined for various features of NF-1 including the presence of freckling in various parts of the body. Results: Out of 26 patients in this cross-sectional observational study, 76.92% patients had axillary freckling or inguinal freckling or both; whereas 88.46% patients had palmer freckling. Conclusion: The unconventional patterns of freckling like palmer and facial freckling may be occurring at a higher frequency than reported and in some scenarios, may be more than the established criteria like axillary freckling. [ABSTRACT FROM AUTHOR]

Case Report: Solitary plexiform neurofibroma of the penis is an extremely rare peripheral nerve lesion with only about 20 cases reported all around the world. Here, we are reporting a case of solitary penile plexiform neurofibroma with sexual dysfunction due to difficulty in penetration. This 47-year-old gentleman presented with a swelling on the dorsal side of the penis. He was aware of the swelling for the last 15 years. The swelling was slow growing and there was no associated loss of sensation or sexual dysfunction. For the last 2 months, he noticed that the tumour is rapidly increasing in size. He was also having difficulty in penetration during sexual intercourse which forced him to seek medical attention. He underwent excision of the swelling from our department. After 18 months of follow-up following excision, there has been no evidence of recurrence of the tumour.Conclusion: Penile plexiform neurofibromas are a rare type of lesions and are usually associated with neurofibromatosis. Solitary penile plexiform neurofibromas are extremely rare. Excision, when done properly, gives good results, without erectile dysfunction. [ABSTRACT FROM AUTHOR]

Abstract: A rhabdomyoblastic differentiation in a malignant peripheral nerve sheath tumor is unusual and is termed as a malignant triton tumor. A series of 10 such cases with their clinicomorphological features, diagnosed over a 10-year period, is presented. The average age of occurrence was 30 years, with the maximum number of cases in the second decade and with male outnumbering female patients. More cases were seen in the setting of neurofibromatosis. On histology, 80% of the cases were of high grade. Distinct rhabdomyoblastic cells were identified in the areas of malignant peripheral nerve sheath tumor. Immunohistochemistry confirmed the neurogenic differentiation with varying S-100 expression and the rhabdomyoblastic differentiation with desmin and myoglobin positivity in all cases. Surgery with adequate margins constituted the treatment mainstay with adjuvant chemotherapy and/or radiotherapy in individual cases. On follow-up with 7 cases, 3 showed local recurrences, including one that, in addition to another 2 cases, showed lung metastasis. One patient died of the disease. This case along with another high-grade case displayed a diffuse Ki-67 and p53 positivity. Malignant triton tumor is an uncommon tumor associated with an aggressive behavior. Surgery with clear margins is the treatment mainstay. Adjuvant radiotherapy is effective. [Copyright &y& Elsevier]

Emperor Ashoka is widely regarded as one of the greatest rulers of India. This paper mainly deals with his medical condition as recorded in the Buddhist texts of Sri Lanka as well as in the Buddhist texts of North India and Nepal. These sources mention his skin disorder which is described as very rough and unpleasant to touch. He is also known to have episodes of loss of consciousness at various times in his life. One of the earliest representations of Ashoka, about 100 years after his death at one of the gates of Sanchi Stupa, shows Ashoka fainting when visiting the Bodhi tree and being held by his queens. In this sculpture, Emperor Ashoka is shown as a man of short height, large head and a paunchy abdomen. In this paper, it is speculated that Emperor Ashoka was probably suffering from von Recklinghausen disease (Neurofibromatosis Type 1), which could explain his skin condition, episodes of loss of consciousness (probably epilepsy) and other bodily deformities. [ABSTRACT FROM AUTHOR]