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CASE REPORTS
PLEXIFORM NEUROFIBROMATOSIS OF THE ABDOMINAL WALL : A Rare Presentation
SAMEER A REGE, MANOJ S JAIN, PRASHANT JAIN, ABHAY N DALVI
Objective : Plexiform neurofibroma or pachydermatocoele is an uncommon variety of generalised neurofibromatosis, usually associated with Trigeminal nerve. We report a rare case of segmental plexiform neurofibroma over the anterior abdominal wall. Clinical presentation : A 50-year-old female presented with overhanging mass from the left side of anterior abdominal wall. There were no other symptoms. Family history was not contributory. Cafe-au lait spots were present all over the body. Whole body examination did not reveal any other site of neurofibroma.
Intervention : Wide excision was done with primary skin grafting.
Conclusion : Surgical treatment is the widely accepted form of the treatment. Malignant change requires to be ruled out before intervention and a careful histopathological evaluation of the specimen is necessary. Prognosis is usually good with surgical treatment.INTRODUCTION
Plexiform neurofibroma or pachydermatocoele is a type of neurofibromatosis caused by excessive growth of the neural tissue in the subcutaneous fat. It is commonly seen in connection with the branches of trigeminal nerve.1 It has also been reported in retroperitoneal region, paraspinal and mediastinal area.2 A single case of anterior abdominal wall plexiform neurofibroma has been documented by Aloi et al.3 This condition is commonly seen in the west, but rarely found in the Indian subcontinent.4 We report a case of pachydermatocoele involving the nerves of the anterior abdominal wall without systemic involvement.
CASE REPORT
A 50-year-old female patient presented to us with a history of swelling, which gradually started hanging down from the left side of the anterior abdominal wall since 3 months. There was no history of any similar swelling elsewhere over the body. There was no history of any pain, trauma or constitutional symptoms. There was no history of tingling numbness or any distal neurological deficit. She had no history of any bowel or bladder complaints. Patient was the only child of her parents and had no family history. She was postmenopausal and had delivered 2 children normally and none had similar complaints. On physical examination, she had a short stature with kyphoscoliosis of the thoracolumbar spine. There was cafe-au-lait spots all over the body, which varied in size from one to two and half centimeters. Ophthalmic and auditory examinations were normal. Inspection of the abdomen revealed an irregular pendulous mass, 30x25 cms hanging from the left lumbar region. The skin over the mass was thrown into multiple folds and appeared thickened as in Fig. 1. The mass was anterior to the anterior abdominal muscles and was nontender, firm and pedunculated and thickened nerves could be palpated. The sensations were normal. Systemic examination was normal with no neurological deficit. Plain radiograph of the chest did not reveal any mediastinal widening and radiograph of the skull did not show any widening of internal acoustic meatus. Ultrasonography of the abdomen and computed tomography of the abdomen did not reveal any intra-abdominal abnormality. Wide excision of the mass and split skin grafting of the raw area was done. Histopathology confirmed the diagnosis Fig. 2. Postoperative course was uneventful. A follow-up of 6 months has not shown any recurrence.
DISCUSSION
Plexiform neurofibroma is a type of generalised neurofibromatosis, which occurs due to overgrowth of neural tissue in the subcutaneous fat. It is considered to be a hamartoma than a typical tumour.1 This condition is autosomally dominant with variable penetration and presents as multiple nodules of various sizes, which are firm and nontender associated with cafe-au lait spots. The condition is usually associated with spinal deformities in form of kyphosis or scoliosis as seen in our case. Neurological abnormalities are uncommon. These tumours may undergo malignant change in about 2.4-29% of the cases.5 It is commonly seen along the distribution of trigeminal nerve however, isolated cases of segmental plexiform neurofibromas have also been reported in scalp, neck, chest, pelvis and few cases in the abdomen.1,6Segmental neurofibromatosis is characterised by strictly unilateral occurrence of typical features of ordinary forms (NF1, NF2) and may involve one or more segments.7 They are usually asymptomatic but can impair the function, produce disfigurement, and be the site of malignant nerve sheath tumours. Superficial ultrasonography may show homogeneous hypoechogenicity or slight echogenicity. Malignancies are usually large, irregular, infiltrative, and necrotic with heterogeneous contrast enhancement5 and hence contrast enhanced computed tomography is useful in predicting resectability, detecting metastasis, and evaluating response of the treatment. Magnetic resonance imaging shows peripheral hyperintensity and central hypointensity on T2-weighted sequences and marked contrast enhancement after gadolinium.6 Histopathologic distinction of the lesion may not be always easy8 but provides a confirmatory
diagnosis. However, as malignancy develops in the benign, tissue not all tissue in the malignant neural neoplasm necessarily contains positive malignant histological features.9 Levine et al have advised 67Ga citrate scintigraphy as primary investigation in-patients of neurofibromatosis with suspected malignant change.10 In the study, they have found 67Ga citrate uptake only in malignant neoplasms and not in benign lesions. Tissue biopsy in such cases would yield a confirmation.
Patients with neurofibromatosis should receive genetic counselling11 with a search for a family history, any signs of neurofibromatosis. A careful survey for localising mediastinal, retroperitoneal, paraspinal lesions should always be done, as deep localisations are likely to be underestimated and detection of malignant change might be difficult which may worsen the prognosis. Wide excision is the treatment of choice for fear of recurrence with skin grafting or flaps.1 Prognosis is good in benign lesions and a close surveillance is
recommended to detect malignant change.
ACKNOWLEDGEMENT
We would like to thank the Dean, Dr. Kshirsagar for allowing us to publish the hospital data.REFERENCES
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asymptomatic plexiform lesions. Neurology 1998; 50 : 1755-60.
3. Aloi FG, Massobrio R. Solitary plexiform neurofibroma. Dermatologica 1989; 179 : 84-6.
4. Som A. Tumours and Cysts of Skin and subcutaneous tissue. In: Principles and Practice of Modern Surgery. 5th ed. Calcutta. PS Publishers; 1985; 70-81.
5. Pui MH, Yang ZY, Li ZP. Computed tomography of abdominal neurogenic tumours. Australas Radiol 1998; 42 : 183-7.
6. Ferrozzi F, Zuccoli G, Bacchini E, et al. Extracerebral neoplastic manifestations in neurofibromatosis 1 : integrated diagnostic imaging. Radiol-Med-Torino 1998; 96 : 562-9.
7. Calzavara PG, Carlino A, Anzola GP, Pasolini MP. Segmental neurofibromatosis. Case report and review of the literature. Neurofibromatosis 1988; 1 : 318-22.
8. Woodruff JM, Godwin TA, Erlandson RA, Susin M, Martini N. Cellular schwannoma: a variety of schwannoma sometimes mistaken for a malignant tumour. Am J Surg Pathol 1981; 5 : 733-44.
9. Enzinger FM, Weiss SW. Soft tissue tumours. St. Louis:Mosby, 1983; 580-656.
10. Levine E, Huntrakoon M, Wetzel LH. Malignant nerve sheath neoplasms in neurofibromatosis : Distinction from Benign tumours by using imaging techniques. Am J Roentegenol 1987; 149 : 1059-64.
11. Darie H, Veran Y, Guyadec T, Gros P, Millet P. Cutaneous splanchnic neurofibromatosis. Ann Dermatol Venerol 1998;125 : 509-11.
PANCREATITIS
‘In the past decade, our understanding of the genetic basis, pathogenesis, and natural history of
pancreatitis has grown strikingly’
Although risk factors for acute pancreatitis have been known for some time, the pathophysiology of
this disease is only now being elucidated. RMS Mitchell and collegues from the Duke University
Medical Centre, Durham, USA, explore this and other areas of research into acute pancreatitis,
including developments in treatment, diagnosis and presentation of the disease. They also review
post-ERCP pancreatitis, and say that results of trials assessing drugs for treatment of this disease have been disappointing up to now. The cause, pathogenesis, diagnosis, and treatment of chronic pancreatitis is also mentioned, and the authors note that despite about 50% of patients undergoing surgery to treat the disease, no measurable improvement in quality of life is seen. The authors conclude their Seminar by discussion of the risk of cancer from chronic pancreatitis, and say that annual ultrasound has been suggested as a screen for denocarcinoma in patients with this disease.
BMJ, 2003; 1447.
