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Vol 1 | Issue 2 | Jul – Sep 2022                                                                                       Indian J Pharm Drug Studies | 69  

Case Report 

A Case Report on Neurofibromatosis Associated with Infective Mass Tumor 

Somanaboina Padmakar 

From, Research scholar, Department of Pharmacology, Lovely Professional University. 

Correspondence to: Research scholar, Department of Pharmacology, Lovely Professional University, Phagwara –144001, Punjab, 

India. Email: spadmakar717@gmail.com  

ABSTRACT 

A rare genetic disorder with many non-cancerous (benign) tumors of the skin (neurofibrom as) and nerves is known as 

Neurofibromatosis. This disorder includes type 1-neurofibromatosis 1 (NF1), type 2-neurofibromatosis 2 (NF2), and 

schwannomatosis as complex genetic abnormalities that may affect many different organ systems in the body. When alterations in the 

gene NF1, located in the 17th chromosome occur, it causes NF1 type disorder. NF1 gene controls the synthesis of a specific protein 

called neurofibromin that functions as a tumor suppressor. The predisposition to form tumors, often on the nerves, spine, brain, and 

skin, is a common characteristic of these disorders. But the types and severity of symptoms vary widely among individuals. Here, we 

present a case of NF-1 with a severe infective tumor lesion on the left hand. A 56-year-old male was admitted to the dermatology 

department with a chief complaint of a mass lesion on the hand that was painful, severely itchily, and progressively increased in size. 

Multiple neurofibromas were found on his body that are soft, fleshy tumors arising from a peripheral nerve sheath near the surface of 

the skin, or on the skin, and he had already been diagnosed in his childhood as neurofibromatosis.  

Keywords: Neurofibromatosis type 1, Neurofibromas, Schwannomatosis 

eurofibromatosis type 1 (NF1) is the most frequent 

single-gene disorder affecting the human nervous 

system, an estimated prevalence of 2 to 3 cases per 

10,000 people. He inherited this disorder autosomally 

dominant, with an equal sex incidence. The neurocutaneous 

abnormalities like axillary freckling, cafe-au-lait spots, iris 

hamartomas (Lisch nodules), and cutaneous neurofibromas 

were diagnosed in individuals with NF-1 type disorder [1]. 

Neurofibroma consists of a varied mixture of Schwann's cells, 

perineurial-like cells, and fibroblasts, which is a benign tumor 

deriving from peripheral nerve sheathing [2]. NF1 causes 

mutations in the NF1 gene, the neurofibromin-encoded 60-

exon tumor suppressor locus of 17q11.2. Many malignancies 

of NF1 were observed for heterozygotic loss (LOH) in 

chromosome 17 (including locus NF1) [3].  

NF1 can be evaluated by a clinical examination and by a 

family history of the patient. The diagnosis of NF1 is based on 

the diagnostic criteria of the national health institutes (NIH). 

These criteria typically appear in the following predictable 

order: café-au-lait macules, axillary freckling, Lisch nodules, 

and neurofibromas [4]. The distribution of the affected nerve is 

evident for cutaneous neurofibroma in the skin palpating, 

tenderness to touch, and tingling. Malignant changes occur 

rarely, and if removal intended, should consult expert 

assistance either from a soft tissue tumor/peripheral nerve 

surgeon, and the removal results occasionally in a neurological 

deficit [5]. The present study describes a case of an infective 

mass tumor over the left hand in an NF1 patient.  

CASE REPORT 

A 56-year-old male had been admitted to the dermatology 

department, government general hospital, Kadapa, with a chief 

complaint of mild fever, swelling lesion on the hand which is 

progressively increasing in size, painful and severe itchy for 

three months. The patient had a history of multiple raised non-

itchy neurofibromas over the hands, followed by similar 

lesions on the face, legs, and body folds at two years of age. 

There was no family history of NF. There were no neurological 

abnormalities, skeletal malformations noted. Multiple cafe-au-

lait spots disseminated on his body, several soft, fleshy tumors 

arose from a peripheral nerve sheath near the skin surface 

diagnosed in clinical examination. He was diagnosed in his 

childhood with neurofibromatosis. On cutaneous clinical 

examination, it revealed a severe infective mass tumor (Fig. 1) 

over the left forearm, the biopsy was not performed. 

Associated pruritus that was generalized moderate to severe in 

intensity with no diurnal variation and relieved by treatment 

with oral anti-histamines and topical calamine lotion. On 

physical examination, the patient have a high blood pressure of 

170/90 mmHg that was newly diagnosed. On laboratory 

investigation, C-reactive protein values found to be increased 

18mg/L (0.3- 10mg/L). The patient was admitted to the 

N 

mailto:spadmakar717@gmail.com


Padmakar                                                                               Neurofibromatosis Associated with Infective Mass Tumor 

Vol 1 | Issue 2 | Jul – Sep 2022                                                                                       Indian J Pharm Drug Studies | 70  

hospital for seven days and treated with medications shown in 

table 1. After seven days the patient was discharged with the 

following medications Tab. Amoxycillin and Potassium 

clavulanate 625mg, Oint. Fusidic acid 2%, Tab. 

Chlorpheniramine Maleate 2mg OD and asked to review for 

surgery after 1 week 

 
Fig. 1 Neurofibromas associated with infective mass tumor 

over left forearm  

Table 1: Drugs prescribed to the patient  

Drug name      Dose     Route  Freque 

ncy 

Dura 

tion 

Inj. Amoxycillin and 

Potassium clavulanate 

1.2g  IV  BID  6 d  

Inj. Diclofenac Sodium  75mg  IV  BID  4 d  

Inj. Pantoprazole  40mg  IV  BID  6 d  

Oint. Fusidic acid  2% 

w/w  

Topical  TID  7 d  

Tab. Chlorpheniramine 

Ma  

4 mg  Oral  OD  6 d  

Note: IV - Intravenous BID-Twice a day; TID-Three times a 

day; OD-Once a day  

DISCUSSION  

NF1 is an inherited neurocutaneous condition and 

characterized by a multi-system tumor with a risk of malignant 

transformation across the skin in the central nervous system. 

Neurofibromas are a distinctive feature of the NF1, which are 

benign tissue-based tumors that occur at the periphery of the 

nerves of Schwann cells. They comprise fibroblasts, 

macrophages, and mast cells in addition to neoplastic Schwann 

cells [6]. 52.5 % of individuals with pruritus had localized in 

one or more cutaneous neurofibromas. Pruritus pathogenesis is 

not well known in NF1. It hypothesized that Mast cells and 

components produced from their degranulation were 

considered the main source of pruritus, cNF micro-

environment was known to have mast cells, which may 

contribute to tumor initiation, progression, and angiogenesis 

[7]. Type 1 neurofibromatosis is described as a benign tumor 

disorder nevertheless, in 2% or 4.2% of patients older than 21 

years malignant transformation was reported [8]. There is 

currently no effective treatment method for people with type 1 

neurofibromatosis. One approach is surgical excision, although  

it is usually impossible to remove all lesions due to excess of 

NF-1 and the progression of the disease. Surgery is required 

when suspected of malignancy. Operation indicated if tumors 

pressure on other organs [9]. In preoperative, perioperative, 

and postoperative conditions, radiation treatment is used. 

Adjuvant radiation treatment produced a statistically 

significant decrease in rates of recurrence of local diseases [10].  

CONCLUSION 

Benign (harmless) tumors of neurofibromatosis do not need 

treatment. But subcutaneous tissues are often affected by 

superficial tumors and may evoke significant infection or 

cellulitis. The dermatologist, neurologist, and general surgeon 

should follow these patients routinely to ensure no mass 

lesions were developing.  

Note: Written informed consent was taken from the patient 

who participated in this study.  

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Cancer Res. 2002; 62(5):1573-1577.  

 

How to cite this article: Padmakar S. A Case Report on 

Neurofibromatosis Associated with Infective Mass Tumor. 

Indian J Pharm Drug Studies. 2022; 1(2) 69-70.  

Funding: None                  Conflict of Interest: None Stated 

 


