Cutaneous manifestations in neurofibromatosis type 1

Area of Science:

• Dermatology
• Genetics
• Medical Research

Background:

• Neurofibromatosis type 1 (NF1) is a genetic disorder with significant dermatological impact.
• Understanding the spectrum and prevalence of skin manifestations is crucial for patient management.
• Previous data may not fully represent the real-world prevalence of NF1's cutaneous features.

Purpose of the Study:

• To accurately determine the prevalence of various cutaneous manifestations in a large cohort of Neurofibromatosis type 1 patients.
• To provide updated epidemiological data on skin findings associated with NF1.
• To aid clinicians in recognizing the diverse range of skin conditions linked to NF1.

Main Methods:

• Retrospective chart review of 1102 patients diagnosed with NF1.
• Data collected from patients followed at Sapienza University of Rome between February 1983 and February 2020.
• Analysis focused on documented dermatological findings during regular patient follow-ups.

Main Results:

• Café-au-lait macules were observed in 96.5% of patients.
• Axillary and inguinal freckling occurred in 90% of individuals.
• Neurofibromas were present in 78.1%, with other less common findings including lipomas (6.2%) and psoriasis (3.4%).

Conclusions:

• Neurofibromatosis type 1 is a multisystem disorder with highly variable skin manifestations.
• This study confirms the high prevalence of common cutaneous signs like café-au-lait macules and freckling in NF1.
• The findings underscore the importance of dermatological surveillance in NF1 patient care.