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
Maria Barbe is an Ophthalmologist practicing medicine in Wyomissing, Pennsylvania. 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
Abimbola Ajayi is a Pediatrics provider practicing medicine in West Reading, Pennsylvania. 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.
Dr. Jennifer Mancuso a board-certified dermatologist, and fellowship-trained pediatric dermatologist who provides medical dermatology diagnosis and treatment to patients of all ages. Dr. Mancuso sees patients in our medical dermatology outpatient clinics, including our pediatric dermatology clinic at C.S. Mott Children’s Hospital. In addition, Dr. Mancuso provides dermatology consultation within the Michigan Medicine hospitals and emergency department.Dr. Mancuso is a clinical assistant professor in the departments of dermatology and pediatrics. She received her medical degree from Wayne State University School of Medicine in Detroit, Michigan. Following graduation, Dr. Mancuso completed her transitional year internship and her dermatology residency at Henry Ford Hospital, where she served as Chief Resident in her final year. Dr. Mancuso joined the University of Michigan Department of Dermatology faculty in 2018 and subsequently completed a fellowship in pediatric dermatology at Rady Children’s Hospital in San Diego, California in 2020. Dr. Mancuso is rated as an Advanced provider by MediFind in the treatment of Naegeli-Franceschetti-Jadassohn Syndrome. She is also highly rated in 75 other conditions, according to our data. Her clinical expertise encompasses DRESS Syndrome, Hidradenitis Suppurativa, Keratosis Pilaris, and Vascular Birthmark.
Published Date: May 01, 2013
Published By: National Institutes of Health