Overview
Naegeli-Franceschetti-Jadassohn syndrome (NFJS) is a very rare inherited skin disorder that affects the way the skin looks and functions. It is sometimes called Naegeli syndrome or NFJS syndrome. The condition belongs to a group of disorders called ectodermal dysplasias, which means it affects tissues that develop from the outer layer of the embryo — including skin, sweat glands, teeth, and nails. The most noticeable feature of NFJS is a brownish discoloration of the skin called reticulate pigmentation, which usually appears in a net-like or lacy pattern, most often on the neck, chest, and abdomen. This pigmentation typically shows up in early childhood and, interestingly, tends to fade as a person gets older. People with NFJS also have problems sweating (or cannot sweat at all), which can make it very hard to tolerate heat. Other common features include thickened skin on the palms and soles, abnormal or missing fingerprints, dental problems such as early tooth decay or missing teeth, and nail abnormalities. There is currently no cure for NFJS. Treatment focuses on managing symptoms — for example, staying cool to avoid overheating, protecting the skin, and getting regular dental care. With careful management, many people with NFJS can live relatively normal lives, though the condition requires ongoing attention throughout life.
Also known as:
Key symptoms:
Net-like or lacy brownish skin discoloration (reticulate pigmentation), especially on the neck, chest, and bellyLittle or no ability to sweat (hypohidrosis or anhidrosis)Thickened, rough skin on the palms of the hands and soles of the feet (palmoplantar keratoderma)Absent or very faint fingerprintsDental problems such as early tooth decay, small teeth, or missing teethNail abnormalities such as thin, brittle, or ridged nailsHeat intolerance due to inability to sweat properlySkin pigmentation that fades with ageDry skin
Clinical phenotype terms (30)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Naegeli-Franceschetti-Jadassohn syndrome.
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Specialists
View all specialists →No specialists are currently listed for Naegeli-Franceschetti-Jadassohn syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Naegeli-Franceschetti-Jadassohn syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Has genetic testing confirmed a change in the KRT14 gene, and what does that mean for my family members?,What is the safest way for me (or my child) to exercise or be active outdoors given the inability to sweat?,What signs of heat stroke should I watch for, and what should I do if they occur?,What skin care products do you recommend for the thickened skin on my hands and feet?,How often should I see a dentist, and are there special dental treatments I should know about?,Are there any patient registries or research studies I can participate in?,Should other family members be tested for this condition?
Common questions about Naegeli-Franceschetti-Jadassohn syndrome
What is Naegeli-Franceschetti-Jadassohn syndrome?
Naegeli-Franceschetti-Jadassohn syndrome (NFJS) is a very rare inherited skin disorder that affects the way the skin looks and functions. It is sometimes called Naegeli syndrome or NFJS syndrome. The condition belongs to a group of disorders called ectodermal dysplasias, which means it affects tissues that develop from the outer layer of the embryo — including skin, sweat glands, teeth, and nails. The most noticeable feature of NFJS is a brownish discoloration of the skin called reticulate pigmentation, which usually appears in a net-like or lacy pattern, most often on the neck, chest, and ab
How is Naegeli-Franceschetti-Jadassohn syndrome inherited?
Naegeli-Franceschetti-Jadassohn syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Naegeli-Franceschetti-Jadassohn syndrome typically begin?
Typical onset of Naegeli-Franceschetti-Jadassohn syndrome is childhood. Age of onset can vary across affected individuals.