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. Joyce Teng
Pediatrics
Elite in Aplasia Cutis Congenita
Dr. Joyce Teng
Pediatrics

Lucille Packard Children's Hospital 030962

770 Welch Rd, 
Palo Alto, CA 
650-721-1227
Languages Spoken:
English
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Joyce Teng is a Pediatrics provider in Palo Alto, California. Dr. Teng is rated as an Elite provider by MediFind in the treatment of Aplasia Cutis Congenita. Her top areas of expertise are Lamellar Ichthyosis, Nonbullous Congenital Ichthyosiform Erythroderma, Nevoid Basal Cell Carcinoma Syndrome, Dowling-Meara Epidermolysis Bullosa Simplex, and Liver Embolization.

Elite in Aplasia Cutis Congenita
Dr. Dawn Siegel
Pediatrics
Elite in Aplasia Cutis Congenita
Dr. Dawn Siegel
Pediatrics

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 in Sunnyvale, California. Dr. Siegel is rated as an Elite provider by MediFind in the treatment of Aplasia Cutis Congenita. Her top areas of expertise are PHACE Syndrome, Hemangioma, Aplasia Cutis Congenita, and Clouston Syndrome.

 
 
 
 
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Elite in Aplasia Cutis Congenita
Dr. Ilona Frieden
Pediatrics
Elite in Aplasia Cutis Congenita
Dr. Ilona Frieden
Pediatrics

Office

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

Ilona Frieden is a Pediatrics provider in San Francisco, California. Dr. Frieden is rated as an Elite provider by MediFind in the treatment of Aplasia Cutis Congenita. Her top areas of expertise are PHACE Syndrome, Hemangioma, Clouston Syndrome, and Ectodermal Dysplasias.

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What are the latest Aplasia Cutis Congenita Clinical Trials?
Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
Enrollment Status: Recruiting
Publish Date: April 15, 2026

Summary: The goal of this research study is to identify genes and regulatory elements on chromosomes that cause ACC. The investigators also study tissue samples from patients to learn about the processes that lead to this disorder.

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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: April 14, 2026

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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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center