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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?
Medical Genetics | Pediatrics
Medical Genetics | Pediatrics

Washington University

1 Childrens Pl, 
Saint Louis, MO 
 (55.5 mi)
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Dorothy Grange is a Medical Genetics specialist and a Pediatrics provider in Saint Louis, Missouri. Dr. Grange and is rated as a Distinguished provider by MediFind in the treatment of Aplasia Cutis Congenita. Her top areas of expertise are Phenylketonuria (PKU), Aplasia Cutis Congenita, Clouston Syndrome, and Ectodermal Dysplasias. Dr. Grange is currently accepting new patients.

Neuroradiology | Radiology
Neuroradiology | Radiology

Washington University

5225 Mid America Plz, 
Saint Louis, MO 
 (48.9 mi)
Languages Spoken:
English

Matthew Parsons is a Neuroradiologist and a Radiologist in Saint Louis, Missouri. Dr. Parsons and is rated as an Experienced provider by MediFind in the treatment of Aplasia Cutis Congenita. His top areas of expertise are Stroke, Meningioma, Neurofibromatosis Type 2 (NF2), RASopathies, and Bone Marrow Aspiration.

 
 
 
 
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1465 S Grand Blvd, 
Saint Louis, MO 
 (53.9 mi)
Languages Spoken:
English, French
Accepting New Patients

Elaine Siegfried is a Dermatologist in Saint Louis, Missouri. Dr. Siegfried and is rated as an Advanced provider by MediFind in the treatment of Aplasia Cutis Congenita. Her top areas of expertise are Atopic Dermatitis, Molluscum Contagiosum, Aplasia Cutis Congenita, and Clouston Syndrome. Dr. Siegfried is currently accepting new patients.

What are the latest Aplasia Cutis Congenita Clinical Trials?
A Prospective Natural History Study of Patients With Neurofibromatosis Type 2 (NF2).

Summary: Objective With this prospective natural history study 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 physical ...

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A Phase 3 Randomized Study of Selumetinib Versus Carboplatin/Vincristine in Newly Diagnosed or Previously Untreated Neurofibromatosis Type 1 (NF1) Associated Low-Grade Glioma (LGG)

Summary: This phase III trial studies if selumetinib works just as well as the standard treatment with carboplatin/vincristine (CV) for subjects with NF1-associated low grade glioma (LGG), and to see if selumetinib is better than CV in improving vision in subjects with LGG of the optic pathway (vision nerves). Selumetinib is a drug that works by blocking some enzymes that low-grade glioma tumor cells need ...

Who are the sources who wrote this article ?

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

What are the Latest Advances for Aplasia Cutis Congenita?
'PHACE' on the 'face'.
Pachyonychia Congenita.
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