Learn About AEC Syndrome

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 top AEC Syndrome Local Doctors?
CM
Caterina Missero
Distinguished
Highly rated in
6
conditions

CEINGE Biotecnologie Avanzate

Naples, IT 

Caterina Missero practices in Naples, Italy. Missero is rated as a Distinguished expert by MediFind in the treatment of AEC Syndrome. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are AEC Syndrome, Clouston Syndrome, Aplasia Cutis Congenita, and Ectodermal Dysplasias.

AB
Dr. Alanna F. Bree
Dermatology | Pediatrics
Distinguished
Highly rated in
7
conditions
Dermatology
Pediatrics

1976 W Dallas Street, 
Houston, TX 

Alanna Bree is a Dermatologist and a Pediatrics expert in Houston, Texas. Bree is rated as a Distinguished expert by MediFind in the treatment of AEC Syndrome. She is also highly rated in 7 other conditions, according to our data. Her top areas of expertise are AEC Syndrome, Pili Torti, Ectodermal Dysplasias, and Aplasia Cutis Congenita. Bree is currently accepting new patients.

 
 
 
 
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HV
Hans Van Bokhoven
Distinguished
Highly rated in
29
conditions

Donders Institute For Brain

Cognition And Behaviour, Radboud University Medical Center, 
Nijmegen, GE, NL 

Hans Van Bokhoven practices in Nijmegen, Netherlands. Van Bokhoven is rated as a Distinguished expert by MediFind in the treatment of AEC Syndrome. He is also highly rated in 29 other conditions, according to our data. His top areas of expertise are Crouzon Syndrome, AEC Syndrome, Lissencephaly, and Walker-Warburg Syndrome.

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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

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