Publication:

Neurofibromatosis type 1 with diagnostic value of skin and ocular manifestations

Neurofibromatosis type 1 (NF1) is a genetic mutation - autosomal dominant neurocutaneous condition, with variable clinical expression. The mutation in a gene contains the code for making a protein (Neurofibromin), which acts as tumor suppressor. It is characterized by a pigmentation of skin, non-cancerous (benign) tumors to grow along the nerves in skin, eyes, brain and other body parts. Those tumors and their complications are usually causing a range of symptoms. It is an extremely variable multisystem disease; the progression and severity may differ throughout life in an affected individual as well as in affected family members with the same NF1. This case report presents a 12-year-old boy with a clinical diagnosis of NF1, who was diagnosed initially at the age of two with multiple hyperpigmented macules. He has a positive family history, with similar symptoms in his father and grandfather. Dermatological examination revealed café-au-lait macules (CALMs) on the chest and back, measuring over 1.5 cm, alongside axillary and inguinal freckling. Ophthalmological evaluation showed Lisch nodules in both irises and iris hyperpigmentation. Previous lab tests were normal, and imaging studies, including eyes ultrasounds and brain MRI, revealed no abnormalities. This case illustrates the importance of early cutaneous and ocular findings in the diagnosis of NF1, also Multidisciplinary follow ups are important to detect early systemic complications.