Topics Discussed: dermatology; pediatric dermatology; skin diseases, genetic.
Sections: The Ichthyoses and Ichthyosiform Disorders, Palmoplantar Keratodermas, Disorders of Pigmentation, Tumor Syndromes, Other Neurocutaneous Disorders, Epidermolysis Bullosa, Disorders of the Dermis, Ectodermal Dysplasias and Other Primarily Ectodermal Disorders, Immunodeficiency Disorders, Photosensitivity Disorders, Disorders of Premature Aging, References.
Excerpt:"During the last decade, our understanding of the molecular bases
for genetic disorders of the skin has expanded tremendously. Identifying
the gene mutations that lead to phenotypic manifestations facilitates
prenatal diagnosis using molecular techniques. For some disorders,
this information has translated into early trials of gene therapy
or the development of new pharmacologic therapy based on manipulation
of gene product levels. Several support groups that provide education
for patients and physicians are available and are listed for each
subgroup of genetic disorders of skin. The National Organization
for Rare Disorders (NORD) at http://www.rarediseases.org can
also help families for whom there is no specific support group. More
information about specific genetic disorders can be found at http://www.ncbi.nih.gov/sites/entrez?db=OMIM and
about the availability of genetic testing at http://www.genetests.org...."
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