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Year : 2018  |  Volume : 9  |  Issue : 5  |  Page : 348-350  

A rare case of neurofibromatosis type i with coexistent wilson disease

Department of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India

Date of Web Publication4-Sep-2018

Correspondence Address:
Vijay Kumar
Department of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/idoj.IDOJ_344_17

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How to cite this article:
Rai T, Kumar V, Subba N. A rare case of neurofibromatosis type i with coexistent wilson disease. Indian Dermatol Online J 2018;9:348-50

How to cite this URL:
Rai T, Kumar V, Subba N. A rare case of neurofibromatosis type i with coexistent wilson disease. Indian Dermatol Online J [serial online] 2018 [cited 2021 Apr 15];9:348-50. Available from: https://www.idoj.in/text.asp?2018/9/5/348/240533


We report a case of a girl who had features of both Type I neurofibromatosis and Wilson disease. A 10-year-old girl presented to outpatient department of our hospital, with hyperpigmented macules and skin-colored nodules. No other systemic complaints and history of similar complaint in any of the family member was present. On physical examination, we found more than six cafe-au-lait spots (most >1.5 cm) with axillary and palmar freckling and more than two neurofibroma that raised the possibility of neurofibromatosis Type 1 (NF1) [Figure 1]. Ophthalmological examination showed Kayser–Fleischer ring (KF ring) [Figure 2] and Lisch nodule. Other systemic examinations were within normal limit. A pediatric consultation was done and 24-hour urinary copper level, ceruloplasmin level along with ultrasound abdomen and magnetic resonance imaging (MRI) of brain was advised as they suspected Wilson disease. Histopathological examination of nodular lesion showed spindle cells with elongated wavy nuclei consistent with features of neurofibroma [Figure 3]. Routine blood tests were normal and brain MRI showed altered signal intensity in bilateral lentiform nucleus and bilateral thalamus and mid brain [Figure 4] with bilateral globipallidi showing T2 hyperintensities and left cerebral peduncle (midbrain) showing focal T2 hyperintensity. Most commonly affected sites were basal ganglia, midbrain, and thalamus, though our patient did not have any neurological manifestations. The 24-hour urinary copper level were 143.1 μg/24 h (normal value is less than 50 μg/24 h) and ceruloplamin levels were low. These findings were consistent with diagnosis of Wilson disease and this patient presented with cafe-au-lait spots, neurofibromas, axillary, and palmar freckling. According to the clinical criteria,[1] she fulfilled the criteria of NF1, but had no positive family history.
Figure 1: Multiple brown color papules and a nodular lesion present over back

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Figure 2: Slit-lamp examination showing Kayser-Fleischer ring in the cornea

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Figure 3: Histopathology of nodule showing spindle cells with elongated wavy nuclei (H and E, ×40)

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Figure 4: Brain MRI showing altered signal intensity in bilateral lentiform nucleus and thalamus

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The most common features of NF1 are pigmentary abnormalities, such as macules, skin folds freckling, and iris hamartomas (Lisch Nodules). They are prone to the development of a wide variety of nervous system abnormalities such as benign and malignant tumors of the peripheral and central nervous systems.[2] Diagnosis of NF1 is based on clinical criteria,[3],[4] though genetic study can be used for finding the mutations. For further management, we referred the patient to pediatrician. The occurrence of two genetic diseases can be observed rarely in clinical practice. It may not be a true association but just a coincidence. Because NF-1 is a very common disease, its association with other diseases or neoplasia is likely to occur coincidentally. To date, this is the third case of association between these two diseases described in the literature, the previous two cases being a 14-year-old Iranian[5] and 12-year-old Brazilian.[6] The two diseases share an important characteristic, i.e., they both predispose to the development of neoplasia. NF-1 leads to the development of both benign and malignant tumors. In this disease, there is a mutation in the NF-1 gene that codes for neurofibrin, which acts as a tumor suppressor through the regulation of Ras-MAPK. Patients of Wilson disease are also at an increased risk of cancer. Early diagnosis of NF-1 is important because several complications affecting life expectancy may occur in these patients, such as association with neoplasias and coexistence with other genetic diseases. Such patients can be managed effectively by team effort of dermatologists, pediatricians, neurologists, and gastroenterologists. A multidisciplinary approach is important for such cases. A thorough clinical examination and timely referral helped in making the diagnosis in our case. A proper follow-up is essential in such patients, and we have counseled the patient accordingly.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

   References Top

MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, Jaramillo D, et al. Diagnostic criteria for schwannomatosis. Neurology 2005;64:1838-45.  Back to cited text no. 1
Arun D, Gutmann DH. Recent advances in neurofibromatosis type 1. Curr Opin Neurol 2004;17:101-5.  Back to cited text no. 2
Reynolds RM, Browning GG, Nawroz I, Campbell IW. Von Recklinghausen's neurofibromatosis: Neurofibromatosis type 1. Lancet 2003;361:1552-4.  Back to cited text no. 3
Friedman JM, Birch PH. Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1,728 patients. Am J Med Genet 1997;70:138-43.  Back to cited text no. 4
Sahraian MA, Motamedi M, Paknejad SH, Azimi AR. Coexistence of Wilson's disease and neurofibromatosis type 1 in a 14-year-old boy. Neurol India 2007;55:89-90.  Back to cited text no. 5
[PUBMED]  [Full text]  
Sawamura R, Ottoboni-Brunaldi M, Ramalho LN, Zucoloto S, Balancin ML, Fernandes MI. Association of Wilson disease with neurofibromatosis. Rev Esp Enferm Dig 2011;103:551-3.  Back to cited text no. 6


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


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