Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood

Elisabeth Castellanos, PhD1; Adrià Plana, MD2; Cristina Carrato, MD, PhD3; et al

Abstract published online on January 10, 2018


Key Points

Question  Could the dermatological identification of skin plaque plexiform schwannomas in children facilitate the early diagnosis and treatment of individuals with neurofibromatosis type 2 (NF2)?

Findings  This genetic testing study reports a case of an early diagnosis of NF2 in a child after genetic analysis of congenital skin plaques using skin plaque Schwann cells, which carry a double inactivation of the NF2 gene and are useful for genetic testing. We confirmed these findings by analyzing 6 additional skin plaques from 6 unrelated patients with NF2.

Meaning  Dermatological identification of skin plaque schwannomas in children would facilitate the early diagnosis and treatment of patients with NF2 before development of severe adverse effects.


URL: https://jamanetwork.com/journals/jamadermatology/article-abstract/2667764