Beyond the Skin: The Psychological Dimensions of Neurofibromatosis Type 1

Abstract

Aims: Illustrate the clinical and psychosocial characteristics of neurofibromatosis type 1 that impact the quality of life of patients. Clinical Case: A 29-year-old male patient, skin phototype V/VI, presents with a generalized, bilateral, and symmetrical dermatosis characterized by sessile and pedunculated papule-like neoplasms and soft, skin-colored nodules, well- demarcated, of varying numbers and sizes, some of which have been painful for years, and comes for evaluation and planning of surgical excision of lesions. Discussion: Neurofibromatosis type 1 is a multisystem genetic disease characterized by  benign tumors and neurocognitive disorders. Its psychosocial impact includes learning difficulties, behavioral disorders, and low self-esteem, which can lead to social isolation and risky behaviors. Conclusion: Neurofibromatosis type 1 goes beyond its dermatological manifestations, profoundly affecting the lives of those who suffer from it. A comprehensive understanding of its manifestations allows for the development of supportive therapeutic strategies that address all aspects that promote a better quality of life.