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ORIGINAL ARTICLE
Year : 2009  |  Volume : 50  |  Issue : 4  |  Page : 80-83 Table of Contents     

Clinico-pathologic presentation and management of neurofibromatosis type 1(Von Recklinghausen's) disease among north-eastern Nigerians: A six year review


1 Department of Medicine (Neurology), University of Maiduguri Teaching Hospital, PMB 1414, Maiduguri, Bomo State, Nigeria
2 Department of Surgery (Plastic Surgery Unit), University of Maiduguri Teaching Hospital, PMB 1414, Maiduguri, Bomo State, Nigeria
3 Department of Histopathology, University of Maiduguri Teaching Hospital, PMB 1414, Maiduguri, Bomo State, Nigeria
4 Department of Medicine (Dermatology), University of Maiduguri Teaching Hospital, PMB 1414, Maiduguri, Bomo State, Nigeria

Date of Web Publication16-Nov-2010

Correspondence Address:
Y W Nyandaiti
Department of Medicine (Neurology), University of Maiduguri Teaching Hospital, PMB 1414, Maiduguri, Bomo State
Nigeria
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Source of Support: None, Conflict of Interest: None


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   Abstract 

Objective: Neurofibromatosis type 1 is not an uncommon disorder, its prevalence is said to be around 1 in 2000-4000 live birth. It has diverse manifestations that may affect any part of the body and present to clinician of any specialty, however, little or no attention have been given to area of neurological, ophthalmological and auditory complications in these patients. This study is aimed at evaluating the clinical, histological presentation and to highlight the need of multi disciplinary approach in the management of this condition.
Methodology: The case records of patients who presented with clinical signs and request form with histologically proven neurofibrom atosis were retrieved and reviewed from University of Maiduguri Teaching Hospital and Federal Medical Center Azare from January 2000-December 2005. The clinical characteristics, histological reports and complications were evaluated. Information such as the age, sex, site and histological diagnosis were extracted from the patient's case notes and histology request form.
Results: Forty seven patients fulfill the diagnostics criteria of the national institute of health consensus development conference NIHCDC. The age range was 10-65yrs, with the mean of 27.85yrs. There were 23 males and 24 fern ales, sixteen patients had a positive family history of sim ilar condition in a first degree relative and three are from same parents. Forty one had cutaneous fibroma (87.2%) while 6 (12.8%) were plexiform. Twenty-nine patients had cafe a laic lesion (61.7%), while 30(63.8%) presented with axillaiy and or inguinal freckling. One of the cases presented with osseous lesion and hypertension. The commonest site of neurofibroma was the trunk 16(34%), head and face 11(23%), then the lower limb 10(21.8%). Treatment modality was mainly excision of neurofibroma.
Conclusion:This study have documented that NF1 is not an uncommon disorder in this region and has no sex predilection and present commonly within the second and third decade of life when dermal neurobribroma start to occur in the skin; the trunk, head and face being the commonest area of affliction. Attention is to be paid to neurological, ophthal nological and auditory systems in the evaluation of the patients and to follow up these patients for a long time to evaluate the long term complications.

Keywords: Neurofibromatosis type 1(NF1), Clinico-pathologic presentation and management


How to cite this article:
Nyandaiti Y W, Tahir C, Nggada H A, Ndahi A A. Clinico-pathologic presentation and management of neurofibromatosis type 1(Von Recklinghausen's) disease among north-eastern Nigerians: A six year review. Niger Med J 2009;50:80-3

How to cite this URL:
Nyandaiti Y W, Tahir C, Nggada H A, Ndahi A A. Clinico-pathologic presentation and management of neurofibromatosis type 1(Von Recklinghausen's) disease among north-eastern Nigerians: A six year review. Niger Med J [serial online] 2009 [cited 2019 Nov 12];50:80-3. Available from: http://www.nigeriamedj.com/text.asp?2009/50/4/80/71964


   Introduction Top


Neurofibromatosis type 1 (NF1)best term neurofibromatosis is an autosomal dominant neurogenetic disorder with diverse clinical manifestations that may require care from every type of clinician. It is a common genetic disorder affecting the nervous system which occurs I in every 2000-4000 live birth and occurs in all races and in every geographical location, without sex predilection [1],[2],[3],[4],[5],[6],[7]. Neurofibromatosis may results from mutation in 50% of patients; however, 50% have family history of autosomal transmission [5],[6],[7]. The gene for NF1 is located on chromosome 17 (17q11.2) [1],[6]. The common presentation of NFl is the occurrence of many neurofibroma which could range from benign manifestation to gross disfigurement [Figure 1]. This disorder though mostly benign may be associated or complicated with other clinical conditions such as pheochromocytoma, fractures, hypertension, neuromotor dysfunction, attention deficit, hyperactivity disorder and visuo-spatial processing or present with compressive symptoms or may lead to the development of neurofibrosarcoma [3],[4],[5],[6],[7]. Patients with NF1 have an estimated 3­15% additional risk of malignant disease in their life time.
Figure 1:

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NF1 is associated with various neurologic and endocrinologic abnormalities; these include acoustic nerve involvement, deafness, optic nerve glioma, pheochromocytoma, short stature, growth hormone abnormality and intracranial tumors [6],[8],[9],[10],[11]. Many of these patients have below average intelligence and about 25-40% have learning disability. [6],[8],[11],[12],[13],[14],[15]

Several studies have documented the dermatological and histological presentation of NF1, which were conducted in north central and south western Nigeria. To date no studies was conducted in the North eastern Nigerian. This study was embarked upon to ascertain where the same Clinico pathological presentation NF1 occurred in this part of the country and to emphasis of the need of multi disciplinary management of this common autosomal dominant disorder.


   Methodology Top


Retrospectively case records of patients, who presented with clinical signs and histologically proven neurofibromatosis were retrieved, reviewed and evaluated from University of Maiduguri Teaching Hospital and Federal Medical center Azare from January 2000 to December 2005. The clinical characteristics, histological reports and complications and management of these patients were documented. Patients included in the study are those who fulfilled the national institute of health consensus development conference (NIHCDC) criteria [16] . These criteria are met if a person has two or more of the followings Viz: Six or more cafι au lait macules over 5mm in greatest diameter prepubertal persons and over 15mm in greatest diameter in postpubertal persons; two or more neurofibromas of any type or one plexiform neurofibroma; freckling in the inguinal or the axillary regions; optic glioma; two or more Lisch nodules (irish hamartoma); a distinctive osseous lesion such as sphenoid dysplasia or thinning of the long bone cortex with or without pseudarthrosis; a first degree relative ( parent, sibling or offspring) with neurofibromatosis 1 by the above criteria.


   Results Top


Forty-seven patients had clinical and histological diagnoses of neurofibromatosis 1 from University of Maiduguri Teaching Hospital and Federal Medical Centre Azare, during the 6year study period. There were 23 males 48.9% and 24 female 51.1%. The peak age of presentation was the third decade 19(40.4%) of life and followed by decline to the first decade as shown in [Table 1], [Table 2], [Table 3], [Table 4]. The trunk was the commonest site of neurofibroma with 16(34%) followed by the head and face with 11(23%) [Figure 1] and [Figure 2] then the lower limbs 10(21.7%) and upper limbs 8 (17%).
Figure 2:

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Table 1: Age, sex distribution of neurofibromatosis

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Table 2: Diagnostics criteria for neurofibromatosis

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Table 3: Site of lesions in males and females

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Table 4: Age distribution and grading of neurofibromatosis

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Forty-one (87.2%) of the patients presented with cutaneous and sub cutaneous neurofibroma while 6(12.8%) had plexifrom neurofibrom a. Sixteen of the patients had a first degree relative with similar disorder with three cases of the same parents (siblings) [Figure 3]. Cafe au laic spot and axillary/inguinal freckling were present among 61.7% and 63.4% of patients respectively. One of the patients a 60 year old had documented osseous lesion, hypertension. None of these patients had CT scan or ophthalmological examinations performed or assessed for cognitive dysfunction. Twenty seven (57.5%) cases fall within the grade 1 staging while 31.9%, 6.4% and 2.9% were in grade 2, 3 and 4 NIH staging of Neurofibromatosis. The main treatment was surgical excision of the lesions [Figure 4].
Figure 3:

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Figure 4:

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   Discussion Top


In the six year period forty- seven histological proven neurofibromatoses were seen, 24 and 23 were females and males respectively with no gender predilection. This conformed to the general presentation of neurofibromatosis that NF1 occurs equally in both sexes [1],[2],[3],[4],[5],[6] but differ from studies in North central [17] and south western Nigeria [18] which shows male predominance. The commonest age of presentation was second and third decade, which represent 30% of cases and about 24% presented within the first decade; thus, majority of our patients presented a decade later than in the western population [6],[7] and a decade earlier than a similar survey in western Nigeria, this could probably be due to the higher proportion of females in this study compared to that in western Nigeria, as female become conscious of their physical appearance at an earlier age than males.

Sixteen of the 47 cases have a first degree relative with similar condition; 3 of the cases were a woman with 2 of her daughters. Dermal fibroma was the commonest type with 41 of the cases presenting with cutaneous and subcutaneous fibroma while 6(128%) cases had the plexiform type. Axillary or/inguinal freckling were common signs after derma fibroma, which concur with similar studies as the occur in about 70% of cases of Neuuofibromatosis type 1 , however this study differ from that of Odebode et al[17] where none of their patients had axillary or groin freckles. None of our patients had documented optic glioma or Lisch's nodules as none complaints of visual symptoms nor did they have Computerized Tomography scan or referred to ophthalmologist/neurologist for examination. Our experience was similar to Odebode el at in North central Nigeria which could be due to lack of awareness of diverse manifestation of the disease and lack of resource of the patients to under-go intensive neuro­radiological investigations.

The trunk is the commonest site of presentation than the head, face and neck which is in conformity with the hypothesis that NF1 occurs in skin areas with higher temperature [20]. NDHC grade 1 was the conunonest stage of presentation; however most cases were not followed up for a long period to monitor their progress or long term complications of the conditions.

One patient come in with complication of osseous and severe hypertension and subsequently developed stroke and died. Further screening of her family members show that two of her daughters have derma fibromas that are currently being followed up in our clinics. Other complications were not recorded such as auditory disorders, learning disabilities, macrocephaly and short stature due probably to lack of awareness by the attending physicians to these complications.


   Conclusion Top


This study has documented that NF1 is not an uncommon disorder in this region and has no sex predilection and present commonly within the second and third decade of life when dermal neurofibroma start to occur in the skin; the think, head and face being the commonest area of affliction. Only few studies, paid attention to neurological, ophthalmological and auditory system in the evaluation of the patients and are followed up for along term to evaluate the long term complications [18],[19],[22].


   Recommendation Top


All cases of neurofibromatosis type 1 should be management by a multi disciplinary medical team and be evaluated by neurologist, ophthalmologist, psychiatrist, plastics and ENT surgeons geneticians. Long terms follow up of these is also recommended because of possible danger of neoplasm and malignant transformation.

 
   References Top

1.Friedman J. M. Epidemiology of neurofibromatosis type 1. Am J Med Genet 1999; 89: 1-6.  Back to cited text no. 1
    
2.Neurofibromatosis Conference statement National institute of health consensus development conference Arch Neurol 1988; 45: 575-578.  Back to cited text no. 2
    
3.Kames P. S., neurofibromatosis a common neurocutaneous disorder. Mayo Clinic Proc 1998; 73: 1071-1076.  Back to cited text no. 3
    
4.Morse RP, Neurofibromatosis type 1., Arch Neurol 1999; 56: 364-365.  Back to cited text no. 4
    
5.De Bella K., Szudek J., Friedman J. M. Use of the National Institutes of health criteria for the diagnosis of neurofibromatosis in children. Peadiatrics 2000; 105: 608-614.  Back to cited text no. 5
    
6.Grant R. Neurocutaneous syndromes. In Donaghty M., ed. Brain's Diseases of the Nervous System 11th Edn. Oxford University Press. 2001; 587-591  Back to cited text no. 6
    
7.Tonsgard J. H. Clinical Manifestation and management of neurofibromatosis type 1. Semin Pediatr Neurol 2006; 13: 2­-7.  Back to cited text no. 7
    
8.Matsui I Tanimara M., kabayashi N. et al. Neurofibromatosis type 1 and childhood cancer. Cancer 1993; 72: 2746-2754.  Back to cited text no. 8
    
9.Ducatman B. S., Scheithauer B. W., Piepgrass D. G Amalignant peripheral nerve tumor. A clinic pathological study of 120 cases. Cancer 1986; 57: 2006-2021.  Back to cited text no. 9
    
10.Sorensen S. A., Mulvihil J. J. and Neilsen A. Long term follow up of von Recklinghausen's disease. Survival and malignant neoplasm. N Engl J Med 1986; 314: 1010-1015.  Back to cited text no. 10
    
11.Belzeaux R., Lancon C. Neurofibromatosis type 1, psychiatric disorder and quality of life impairment. Presse Med 2006; 35: 277-280.  Back to cited text no. 11
    
12.Guillamo J. S., Creange A., Khalifa C., Grill J., Rodriguez D., Doz F., Barbarot S., Zerah M., Sanson M., Bastuji-Garin S., Wolkenstein P., for the Reseau NF France, 2002. Prognostic factors of CNS tumors in Neurofibromatosis 1 NF1: A retrospective study of 104 patients. Brain 126: 152-160.  Back to cited text no. 12
    
13.Caviness J. R., \Teme S. Neurocutaneous syndromes and other developmental disorders of the central nervous system. In Isselbacher K. J. et al Eds. Harrison's Principles of Internal Medicine 13th edition. Mc Graw Hill Inc 2339-2344.  Back to cited text no. 13
    
14.Khosrotehrani K., Bastuji-Garin S., Zeller J., Revuz J., Wolkenstein P. Clinical Risk Factors for Mortality in Patients with Neurofibromatosis 1: A cohort Study of 378 Patients. Arch Dermatol 2003; 139: 187-191.  Back to cited text no. 14
    
15.Marocchio L. S., Oliveira D. T., Pereira M. C., Soares C. T., Fleury R. N. Sporadic and multiple neurofibromas in the head and neck region: a retrospective study of 33 years. Clin Oral investing. 2007  Back to cited text no. 15
    
16.NIH conference An update. Neurofibromatosis 1 (Recklinghausen' Disease) and neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis) Mulvilull JJ. Moderator. Annual of lnternal Medicine 1990; 113: 39-52.  Back to cited text no. 16
    
17.Ruggieri M., Huson S. M., The Neuro fibromatosis An overview Ital J Neur Sci. 1999; 20: 89-108.  Back to cited text no. 17
    
18.Odebode T. O., Afolayan E. A. O., Adigun I. A., and Daramola O. O. M., Ciinco pathological study of neurofibromatosis type 1: an experience in Nigeria. International Journal of Derm 2005; 44: 116-120.  Back to cited text no. 18
    
19.Ademuluyi S. A., Sowemimo G O. A., Oyene do J. O. Surgical experience in the management of multiple Neurotbromatosis in Nigerians. West Afi J Med 1989; 8: 59-65.  Back to cited text no. 19
    
20.Kaufman D., Tinschert S., Algermissen B. Is the distribution of dermal neurofibromatosis type 1 NF l related to the pattern of the skin surface temperature? Eur J Dermatolol 2001; 11: 521­525.  Back to cited text no. 20
    
21.Huson S. M. Recent developments in the diagnosis and management of neurofrbromatosis. Arch Dis Child 1989; 64: 745-749.  Back to cited text no. 21
    
22.Adigun A. I., Ayorinde R. O., Buhari M. O., Olatunji A. A., AbdulRahman L. O. Metatastic Neurofibrosarcoma in a Nigerian patient with von Recklinghausen's disease. Nig J Surgery 2003: 2(9): 60-62.  Back to cited text no. 22
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]
 
 
    Tables

  [Table 1], [Table 2], [Table 3], [Table 4]



 

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