Aplasia Cutis Congenita Overview

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Learn About Aplasia Cutis Congenita

What is the definition of Aplasia Cutis Congenita?
Aplasia cutis congenita is a condition in which there is congenital (present from birth) absence of skin, with or without the absence of underlying structures such as bone. It most commonly affects the scalp, but any location of the body can be affected. While most people with Aplasia cutis congenita have no other abnormalities, some people have congenital malformations involving the cardiovascular (heart), gastrointestinal, genitourinary, and central nervous systems. The cause of this condition is unclear and appears to be multifactorial (many different factors appear to play a role); contributing factors may include teratogens, genes, trauma, and compromised blood flow to the skin.
Who are the top Aplasia Cutis Congenita Local Doctors?
Elite in Aplasia Cutis Congenita
Holm C. Schneider
Elite in Aplasia Cutis Congenita
Holm C. Schneider
Erlangen, BY, DE 

Holm Schneider practices in Erlangen, Germany. Schneider is rated as an Elite expert by MediFind in the treatment of Aplasia Cutis Congenita. Their top areas of expertise are Hypohidrotic Ectodermal Dysplasia, Aplasia Cutis Congenita, Clouston Syndrome, and Ectodermal Dysplasias.

Elite in Aplasia Cutis Congenita
Dr. Eli Sprecher
Pediatrics
Elite in Aplasia Cutis Congenita
Dr. Eli Sprecher
Pediatrics
300 Longwood Ave, 
Boston, MA 
617-355-7701
Languages Spoken:
English
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Accepting New Patients

Eli Sprecher is a Pediatrics provider in Boston, Massachusetts. Dr. Sprecher is rated as an Elite provider by MediFind in the treatment of Aplasia Cutis Congenita. His top areas of expertise are Aplasia Cutis Congenita, Ectodermal Dysplasias, Clouston Syndrome, and Naegeli-Franceschetti-Jadassohn Syndrome. Dr. Sprecher is currently accepting new patients.

 
 
 
 
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Elite in Aplasia Cutis Congenita
Dr. Kenneth M. Huttner
Neonatology
Elite in Aplasia Cutis Congenita
Dr. Kenneth M. Huttner
Neonatology
Interlenkin Genetrics, Inc., 135 Beaver Street, 
Waltham, MA 
781-419-4745
Languages Spoken:
English

Kenneth Huttner is a Neonatologist in Waltham, Massachusetts. Dr. Huttner is rated as an Elite provider by MediFind in the treatment of Aplasia Cutis Congenita. His top areas of expertise are Ectodermal Dysplasias, Clouston Syndrome, and Aplasia Cutis Congenita.

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What are the latest Aplasia Cutis Congenita Clinical Trials?
A Phase 0/I/II Study of the Cyclin-Dependent Kinase(CDK)4/6 Inhibitor Abemaciclib for Neurofibromatosis Type 1 (NF1) Related Atypical Neurofibromas
A Phase 0/I/II Study of the Cyclin-Dependent Kinase(CDK)4/6 Inhibitor Abemaciclib for Neurofibromatosis Type 1 (NF1) Related Atypical Neurofibromas
Who is this study for: Patients with neurofibromatosis type 1 related atypical neurofibromas
Enrollment Status: Recruiting
Publish Date: December 08, 2025
Intervention Type: Drug
Study Drug: Abemaciclib
Study Phase: Phase 1/Phase 2

Background: NF1 is a genetic disease that causes tumors called atypical neurofibromas. These tumors, which arise from nerves, can cause serious medical problems. The only treatment is surgery. Researchers want to see if a drug called abemaciclib can help.

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A Prospective Natural History Study of Patients With Neurofibromatosis Type 2 (NF2).
A Prospective Natural History Study of Patients With Neurofibromatosis Type 2 (NF2).
Enrollment Status: Recruiting
Publish Date: December 08, 2025

Summary: Objective With this prospective natural experiment trial on neurofibromatosis type 2 (NF2) study, we hope to understand the factors leading to tumor progression and neurological disease burden in NF2. Study Population A total of 269 participants, ages 8-75, with a clinical or genetic diagnosis of NF2 will participate in this study. Design Study participants will be evaluated with a thorough physic...

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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