What's new with common genetic skin disorders?

Common genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis, basal cell nevus syndrome (BCNS), incontinentia pigmenti, and X-linked ichthyosis have recognizable, cutaneous features. In children, cases often present without a prior diagnosis. This review highlights new information about diagnostic signs and care of affected patients.

Disruption of key regulatory pathways causes disorders such as BCNS, NF1, and tuberous sclerosis. The discovery of associated mutations in these pathways has led to molecular targeted therapies. For example, use of drugs such as vismodegib in BCNS and rapamycin in tuberous sclerosis complex is being studied. Also, patient review has refined the diagnostic criteria for tuberous sclerosis and incontinentia pigmenti and expanded the phenotype of X-linked ichthyosis. Preimplantation genetic diagnosis for disorders such as NF1 and incontinentia pigmenti is available.

Identification of nevus anemicus or juvenile xanthogranuloma in a young child may lead to an early diagnosis of NF1. Rapamycin offers noninvasive treatment for problematic skin lesions in pediatric patients with tuberous sclerosis. Providers can give early advice to affected families that reproductive technologies such as preimplantation genetic diagnosis are a consideration for future pregnancies.