Cutaneous manifestations in neurofibromatosis type 1
V. 171 N. 5 (2020), Case report
V. 171 N. 5 (2020)

Cutaneous manifestations in neurofibromatosis type 1: doi: 10.7417/CT.2020.2242

Case report
Pubblicato 2020-09-09
E. Miraglia
Dermatologic Clinic, “Sapienza” University of Rome, Rome
E. Moliterni
Dermatologic Clinic, “Sapienza” University of Rome, Rome
C. Iacovino
Dermatologic Clinic, “Sapienza” University of Rome, Rome
V. Roberti
Dermatologic Clinic, “Sapienza” University of Rome, Rome
A. Laghi
Dermatologic Clinic, “Sapienza” University of Rome, Rome
A. Moramarco
Department of Sense Organs, “Sapienza” University of Rome, Rome, Italy
S. Giustini
Dermatologic Clinic, “Sapienza” University of Rome, Rome
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Parole chiave

Café-au-lait macules
Cutaneous manifestations
Freckling
Neurofibromatosis type 1
Neurofibroma
Neurofibromin

Abstract

Objective
To better understand the real prevalence of cutaneous manifestations, in Neurofibromatosis type 1.

Materials and Methods
We reviewed all clinical charts of 1102 NF1 patients followed by February 1983 to February 2020 at the “Sapienza” University of Rome, Italy. NF1 patients are seen usually every year by a dermatologist.

Results
Café-au-lait macules were shown in 1063 patients (96.5%), axillary and inguinal freckling in 991 (90%) and neurofibromas in 861 (78.1%). Other skin manifestations included: lipoma (6.2%), nevus anemicus (3.9%), psoriasis (3.4%), spilus nevus (3.2%), juvenile xanthogranuloma (3.2%), vitiligo (2.3%), Becker’s nevus (1.9%), melanoma (0.7%) and poliosis (0.5%).

Conclusions
Neurofibromatosis type 1 is a multisystem disorder primarily involving the skin and nervous system. The clinical manifestations are extremely variable even within a family. This study was performed to delineate the prevalence of cutaneous manifestations in NF1

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