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
Dr. Dawn Siegel
Pediatrics
Elite in Aplasia Cutis Congenita
Dr. Dawn Siegel
Pediatrics
Referral may be required

Child And Adolescent Mental Health-Stanford Children's Health Specialty Services-Sunnyvale

1195 W Fremont Ave, 
Sunnyvale, CA 
650-721-1227
Languages Spoken:
English
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Dawn Siegel is a Pediatrics provider practicing medicine in Sunnyvale, California. Dr. Siegel is rated as an Elite provider by MediFind in the treatment of Aplasia Cutis Congenita. She is also highly rated in 43 other conditions, according to our data. Her clinical expertise encompasses PHACE Syndrome, Hemangioma, Aplasia Cutis Congenita, and Ectodermal Dysplasias.

Elite in Aplasia Cutis Congenita
Dr. Ilona Frieden
Pediatrics
Elite in Aplasia Cutis Congenita
Dr. Ilona Frieden
Pediatrics
Referral may be required

Office

1701 Divisadero St # 340, 
San Francisco, CA 
415-353-7800
Languages Spoken:
English
See accepted insurances

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 11 other conditions, according to our data. Her clinical expertise encompasses PHACE Syndrome, Hemangioma, Clouston Syndrome, and Ectodermal Dysplasias.

 
 
 
 
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Elite in Aplasia Cutis Congenita
Holm C. Schneider
Elite in Aplasia Cutis Congenita
Holm C. Schneider
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 13 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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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: June 18, 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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Familial Investigations of Childhood Cancer Predisposition
Familial Investigations of Childhood Cancer Predisposition
Enrollment Status: Recruiting
Publish Date: June 17, 2026

Summary: NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility...

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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