We have located links that may give you full text access.
Journal Article
Review
What's new with common genetic skin disorders?
Current Opinion in Pediatrics 2015 August
PURPOSE OF REVIEW: 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.
RECENT FINDINGS: 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.
SUMMARY: 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.
RECENT FINDINGS: 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.
SUMMARY: 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.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app