Article
Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.
Archives of dermatological research - 1 Dec 2017
Rasheed Madiha, Shahzad Shaheen, Zaeem Afifa, Afzal Imran, Gul Asma, Khalid Sumbal
Abstract excerpt
Syndromic ichthyosis is rare inherited disorders of cornification with varied disease complications. This disorder appears in seventeen subtypes associated with severe systematic manifestations along with medical, cosmetic and social problems. Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis...
Topics
- Consanguinity
- Dermatologic Agents
- Exome
- Genetic Testing
- Hair
- Hair Diseases
- High-Throughput Nucleotide Sequencing
- Humans
- Ichthyosis
- Mutation
- Phenotype