AEC Syndrome Overview
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What is the definition of AEC Syndrome?
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syndrome) is a form of ectodermal dysplasia, a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. The most common feature is missing patches of skin (erosions) on the scalp, neck, hands, and feet. The skin erosions can lead to infection, scarring, and hair loss. Other features include changes in skin coloring; misshapen or absent fingernails and toenails; malformed or missing teeth; increased sensitivity to heat; hearing loss; cleft lip and/or palate; and other facial abnormalities. This condition is caused by genetic changes in the TP63 gene and is inherited in an autosomal dominant fashion. Rapp-Hodgkin syndrome was classified as a separate disorder until it was discovered that it result from genetic changes in the same part of the TP63 gene. Rapp-Hodgkin syndrome and AEC syndrome are considered to be part of the same disease spectrum.
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Who are the sources who wrote this article ?
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center
What are the Latest Advances for AEC Syndrome?
Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome.
Journal: Cell death discovery
Published: October 22, 2024
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A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
Journal: European journal of medical genetics
Published: January 31, 2023