Rapp–Hodgkin syndrome was formerly thought to be a unique
autosomal dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...
disorder due to a P63 gene mutation. However, it was recently shown to the same disease as
Hay–Wells syndrome
Hay–Wells syndrome (also known as AEC syndrome; see ''#Naming, Naming'') is one of at least 150 known types of ectodermal dysplasia. These disorders affect tissue (biology), tissues that arise from the ectodermal germ layer, such as skin, hair, ...
.
It was first characterized in 1968.
See also
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Punctate porokeratosis
*
List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the Human body, body and composed of Human skin, skin, hair, Nail (anatomy), nails, and related muscle and glands. The major function o ...
References
Further reading
GeneReviews/NCBI/NIH/UW entry on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome or AEC Syndrome, Hay–Wells Syndrome. Includes: Rapp–Hodgkin Syndrome
External links
OMIM entries on AEC
Genodermatoses
Rare syndromes
{{Genodermatoses-stub