A Case of Multiple Neurofibromas with Hypertrichosis in a Patient with Neurofibromatosis I

Authors: Leah Antoinette M. Caro-Chang, Georgina C. Pastorfide, Maria Franchesca S. Quinio

Abstract

Introduction: We report a case of multiple neurofibromas with hypertrichosis in an 11-year-old male. Classic cutaneous neurofibromas, café-au-lait macules, axillary freckling, Lisch nodules and scoliosis were also present fulfilling a diagnosis of Neurofibromatosis type 1. Hypertrichosis overlying a neurofibroma is rarely reported and the mechanism remains to be elucidated.

Case summary: An 11-year-old male consulted for multiple brown patches on the trunk with overlying hair. At birth, the patient had a dark brown to black patch at the lumbosacral portion of his back. At that time, the mother also noted the appearance of multiple skin-colored papules on his upper back and multiple brown patches with thin hair all over the trunk. On examination, there were multiple skin-colored papules on the trunk and thighs. There were multiple café-au-lait macules. There was axillary freckling. There was a black patch with hypertrichosis located midline at the lumbosacral region which was consistent with a neurofibroma, histopathologically.
There were multiple brown, slightly erythematous macules with hypertrichosis on the trunk. These were also histopathologically consistent with neurofibromas. He was assessed to have intellectual disability. He also had multiple Lisch nodules on both eyes. Radiographic examination showed thoracic dextroscoliosis.

Conclusion: Cutaneous neurofibromas are said to contain multipotent precursor cells which may be derived from the multipotent cells of the hair roots. Given this connection, signals that stimulate development of cutaneous neurofibromas may also stimulate follicular induction. In a patient presenting with localized hypertrichosis, an underlying neurofibroma must be suspected.

 

Citation

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Keywords

neurofibromatosis 1, hypertrichosis, neurofibromas

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