Epidermolytic HyperkeratosisSymptoms, Doctors, Treatments, Advances & More
Epidermolytic Hyperkeratosis Overview
Learn About Epidermolytic Hyperkeratosis
Epidermolytic hyperkeratosis is a skin disorder that is present at birth. Affected babies may have very red skin (erythroderma) and severe blisters. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis).
Mutations in the KRT1 or KRT10 genes are responsible for epidermolytic hyperkeratosis. These genes provide instructions for making proteins called keratin 1 and keratin 10, which are found in cells called keratinocytes in the outer layer of the skin (the epidermis). The tough, fibrous keratin proteins attach to each other and form fibers called intermediate filaments, which form networks and provide strength and resiliency to the epidermis.
Epidermolytic hyperkeratosis affects approximately 1 in 200,000 to 300,000 people worldwide.
Epidermolytic hyperkeratosis can have different inheritance patterns. About half of the cases of this condition result from new mutations in the KRT1 or KRT10 gene and occur in people with no history of the disorder in their family.
Takuya Takeichi practices practicing medicine in Nagoya, Japan. Mr. Takeichi is rated as an Elite expert by MediFind in the treatment of Epidermolytic Hyperkeratosis. He is also highly rated in 55 other conditions, according to our data. His clinical expertise encompasses Nonbullous Congenital Ichthyosiform Erythroderma, Lamellar Ichthyosis, Epidermolytic Hyperkeratosis, and Pityriasis Rubra Pilaris.
Julia Reichelt practices practicing medicine in Salzburg, Austria. Ms. Reichelt is rated as an Elite expert by MediFind in the treatment of Epidermolytic Hyperkeratosis. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Epidermolytic Hyperkeratosis, Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa, and Nonbullous Congenital Ichthyosiform Erythroderma.
Johns Hopkins Outpatient Center
Jennifer Powers is a Plastic Surgeon and a Dermatologist practicing medicine in Baltimore, Maryland. Dr. Powers is rated as an Advanced provider by MediFind in the treatment of Epidermolytic Hyperkeratosis. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Basal Cell Skin Cancer, Actinic Keratosis, Pityriasis Rubra Pilaris, and Squamous Cell Skin Carcinoma. Dr. Powers is board certified in American Board Of Dermatology. Dr. Powers is currently accepting new patients.
Published Date: November 01, 2011
Published By: National Institutes of Health