| Naegeli–Franceschetti–Jadassohn syndrome | |
|---|---|
| Other names | Chromatophore nevus of Naegeli |
 | |
| Naegeli–Franceschetti–Jadassohn syndrome has an autosomal dominant pattern ofinheritance | |
Naegeli–Franceschetti–Jadassohn syndrome (NFJS), also known aschromatophore nevus of Naegeli andNaegeli syndrome,[1][2] is a rareautosomaldominant[3] form ofectodermal dysplasia, characterized by reticular skin pigmentation, diminished function of the sweat glands, the absence of teeth andhyperkeratosis of the palms and soles. One of the most striking features is the absence offingerprint lines on the fingers.
Naegeli syndrome is similar todermatopathia pigmentosa reticularis,[4] both of which are caused by a specific defect in the keratin 14 protein.
NFJS is caused by mutations in thekeratin 14 (KRT14) gene, located onchromosome17q12-21.[3][5] The disorder is inherited in an autosomal dominant manner, which means that the defective gene responsible for a disorder is located on anautosome (chromosome 17 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.[citation needed]
In most cases of Naegeli syndrome, a diagnosis is made based on the typical clinical features of this condition. The diagnosis may be confirmed bygenetic testing of theKRT14 gene.[6]
Treatment for Naegeli syndrome is based on an individual's symptoms. Dry skin can be moisturized with creams. Exposure to heat should be limited. To avoid overheating, affected individuals should stay hydrated, wear appropriate clothing, and use wet dressings. Dental care is needed to treat cavities and tooth loss.[7]
It was named afterOskar Nägeli,[8]Adolphe Franceschetti, andJosef Jadassohn.