This Article  • References  • Full text PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Genetic Heterogeneity, Genodermatoses, and Genetic Counseling

Mary L. Williams, MD; Peter M. Elias, MD

Arch Dermatol. 1986;122(5):529-531.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

McKusick's^1,2 maxim about genetic heterogeneity may be stated as follows: when a genetic disorder is examined closely, what at first was thought to be a single entity will be found, in fact, to be several clinically (ie, phenotypically) similar, but fundamentally (genotypically) distinct, disorders. Dermatologists are well aware of this phenomenon, perhaps best illustrated in the ever-enlarging lists of types of Ehlers-Danlos syndrome and xeroderma pigmentosa. Therefore, it is not surprising that, as the ichthyoses are subjected to closer scrutiny, evidence of genetic heterogeneity should be uncovered here, as well. Such heterogeneity can be demonstrated by a variety of methods (Table). Previously, the various inherited forms of ichthyoses have been categorized largely by differences in disease expression (phenotype) and mode of inheritance. Yet, because of both phenotypic overlap and unclear inheritance patterns in individual cases, the clinician can experience difficulties in assigning a precise diagnosis . . . [Full Text PDF of this Article]

Author Affiliations
Dermatology Service Veterans Administration Medical Center 4150 Clement St San Francisco, CA 94121

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?