Transcript NF1 NF2
Skin Manifestations of Neurofibromatosis Type 1 (NF1) Kevin P. Boyd, MD Resident, UAB Department of Dermatology A Little Light Reading… Boyd KP, Korf BR, Theos A. Neurofibromatosis Type 1. J Am Acad Dermatol 2009; 61(1): 1-14. NF1 vs. NF2 NF1 Many CALMs, skin fold freckles, many skin neurofibromas NF2 Few CALMs, no freckles or skin neurofibromas Diagnosis of NF1 DIAGNOSTIC CRITERIA Café-au-lait macules (≥ 6) Skin fold freckling Lisch nodules (> 2) Optic pathway glioma Skin neurofibromas (≥ 2) or plexiform neurofibroma Distinctive bone abnormality NF1 in a parent, child, or sibling NIH Criteria for Diagnosis of NF1 in Children DeBella, K. et al. Pediatrics 2000;105:608-614 Copyright © 2000 American Academy of Pediatrics Café-au-lait Macules (CALMs) • • • • • • • Common in the general population Need at least 6 to diagnose NF1 Early sign of NF1 Appear by age 1 Darken with sun exposure Often fade in adults Not harmful or dangerous Café-au-lait Macules (CALMs) • Treatment – Generally not necessary – Sun protection – Cosmetic cover-up – Lasers can lighten CALMs • Multiple treatments needed • Recurrence possible CALM Research Projects • CALM 1 – Are there significant spot-to-spot color differences among CALMs in a person with NF1? • CALM 2 – Are these differences related to the inherited genetic change (mutation) in the NF1 gene? • CALM 3 – Are these differences related to the combination of the inherited and acquired change in the NF1 gene? CALM 1 Project Conclusions • Reliable tool • Significant spot-tospot variation independent of sun exposure • CALMs darken with sun exposure CALM 1 - Variability CALM 1 – Sun Exposure CALM 1 – Distribution CALM 1(b) – Homogeneity CALM 2 Project • Requirements – Patients with NF1 – ≥ 13 years old – Positive NF1 genetic test • Analyze CALMs using a light meter • Correlate mutation type with our results from the light meter • Positive results = proceed to CALM 3 CALM 2 – Results Skin Fold Freckling • • • • • • Specific for NF1 First appear around age 3 to 5 Involve armpits, groin, neck, below breasts Possible related to heat or friction Not harmful No treatment Skin Neurofibromas Skin Neurofibromas • • • • • • • Bumps on or below the surface of the skin Appear around puberty Increase in size and number Number highly variable Pregnancy can cause growth Low risk of cancer Affect quality of life Skin Neurofibromas • No medical treatment – yet • Treatment options – Simple excision – CO2 laser ablation – Electrocautery • Scar likely • Recurrence possible Neurofibroma Research Project • Goal: Validate a tool that can reliably and objectively follow the growth of skin neurofibromas – Clinical trials – Define natural growth history – Correlate rate of growth with combination of inherited and acquired changes in the NF1 gene Laser Scanner “La guillotine” Neurofibroma Research Study Other Skin Findings • Juvenile xanthogranulomas • Hypopigmented patches • Generalized hyperpigmentation • Glomus tumors Cambiaghi et al. Pediatr Dermatol 2004;21:97-101. Acknowledgements • • • • • • • Patients and families of patients with NF Dr. Bruce Korf Dr. Ludwine Messiaen Dr. Amy Theos Christina Barger DF and SDRC CTF