Naegeli-Franceschetti-Jadassohn SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Naegeli-Franceschetti-Jadassohn Syndrome
Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, because they have similar features and are caused by mutations in the same gene, they are now often considered forms of the same disorder.
NFJS/DPR results from mutations in the KRT14 gene. This gene provides instructions for making a protein called keratin 14. Keratins are tough, fibrous proteins that provide strength and resiliency to the outer layer of the skin (the epidermis). Researchers believe that keratin 14 may also play a role in the formation of sweat glands and the development of dermatoglyphs.
NFJS/DPR is a rare condition; its prevalence is unknown. Only a few affected families have been reported in the medical literature.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Sight MD PA
. Dr. Barbe is rated as an Experienced provider by MediFind in the treatment of Naegeli-Franceschetti-Jadassohn Syndrome. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Strabismus, Esotropia, Amblyopia, and Epicanthal Folds. Dr. Barbe is board certified in American Board Of Ophthalmology.
Penn State Health Medical Group - All About Children
. Dr. Ajayi is rated as an Experienced provider by MediFind in the treatment of Naegeli-Franceschetti-Jadassohn Syndrome. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Obesity in Children, Autism Spectrum Disorder, Ectodermal Dysplasias, and Zlotogora-Ogur Syndrome. Dr. Ajayi is board certified in American Board Of Pediatrics.
Cincinnati Eye Institute
Adam Kaufman is an Ophthalmologist practicing medicine in Blue Ash, Ohio. He has been practicing medicine for over 39 years. Dr. Kaufman is rated as an Advanced provider by MediFind in the treatment of Naegeli-Franceschetti-Jadassohn Syndrome. He is also highly rated in 27 other conditions, according to our data. His clinical expertise encompasses Uveitis, Neuroretinitis, Interstitial Keratitis, Cataract, and Corneal Transplant. Dr. Kaufman is board certified in American Board Of Ophthalmology - 1994 and American Board Of Ophthalmology - None. Dr. Kaufman is currently accepting new patients.
Published Date: May 01, 2013
Published By: National Institutes of Health