Aplasia Cutis Congenita
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Aplasia Cutis Congenita Overview

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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
Elite in Aplasia Cutis Congenita
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Office

1701 Divisadero St # 340, 
San Francisco, CA 
415-353-7800
Languages Spoken:
English
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Accepting New Patients

Ilona Frieden is a Pediatrics provider practicing medicine in San Francisco, California. Dr. Frieden is rated as an Elite provider by MediFind in the treatment of Aplasia Cutis Congenita. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Clouston Syndrome, Ectodermal Dysplasias, Aplasia Cutis Congenita, and Vascular Birthmark. Dr. Frieden is currently accepting new patients.

Elite in Aplasia Cutis Congenita
Elite in Aplasia Cutis Congenita
Referral may be required
Erlangen, BY, DE 

Holm Schneider practices practicing medicine in Erlangen, Germany. Schneider is rated as an Elite expert by MediFind in the treatment of Aplasia Cutis Congenita. They are also highly rated in 17 other conditions, according to our data. Their clinical expertise encompasses Hypohidrotic Ectodermal Dysplasia, Aplasia Cutis Congenita, Clouston Syndrome, and Ectodermal Dysplasias.

 
 
 
 
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Elite in Aplasia Cutis Congenita
Dr. Eli Sprecher
Pediatrics
Elite in Aplasia Cutis Congenita
Dr. Eli Sprecher
Pediatrics
Referral may be required

Children's Hospital Primary Care Center (CHPCC)

300 Longwood Ave, 
Boston, MA 
857-218-6414
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Eli Sprecher is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Sprecher is rated as an Elite provider by MediFind in the treatment of Aplasia Cutis Congenita. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Ectodermal Dysplasias, Clouston Syndrome, Aplasia Cutis Congenita, and Naegeli-Franceschetti-Jadassohn Syndrome. Dr. Sprecher is currently accepting new patients.

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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: September 08, 2026
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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NEI Intramural Biorepository for Retinal Diseases
NEI Intramural Biorepository for Retinal Diseases
Enrollment Status: Recruiting
Publish Date: September 08, 2026

Background: \- To understand diseases of the retina and the eye, information is needed about people with and without such diseases. Researchers want to study these people and follow them over time. They also want to study body tissues and blood to understand the nature of eye disease. Studying genes, cells, and tissues may help them understand why some people get eye problems and others do not, or why some pe...

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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