Psychocutaneous disorders and the quality of life in neurofibromatosis type 1 (von Recklinghausen)
Psychocutaneous disorders and the quality of life in neurofibromatosis type 1 (von Recklinghausen)

Summary/Abstract: Neurofibromatosis type 1 (Von Recklinghausen’s disease) represents a genodermatosis frequently met in dermatological practice, which is induced by the mutation of neurofibromina’s codifying gene. Owing to the wide and complex spectrum of mucocutaneous and systemic manifestations, this disease has a great impact on patients’ quality of life and is mostly embodied in alteration of psychosocial relationships, such as anxiety, depression, isolation or refusal to attend school or work. Besides cutaneous manifestations, the clinical presentation of Recklinghausen’s disease can include ocular, skeletal, cardiovascular or neuropsychiatric symptoms/signs and emphasizes the impairment of the quality of life. The development of modern techniques permits an early prenatal diagnosis, and moreover, the interdisciplinary cooperation greatly improves the quality of life index.

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