A rare case of neurofibromatosis with coexistent wilson dise
Published in the Indian Journal of Dermatology, the authors present a case of a girl who had features of both Type I neurofibromatosis and Wilson disease.

A 10-year-old girl presented 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).

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. Routine blood tests were normal and brain MRI showed altered signal intensity in bilateral lentiform nucleus and bilateral thalamus and mid brain 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, she fulfilled the criteria of NF1, but had no positive family history.

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