Naegeli–Franceschetti–Jadassohn syndrome (NFJS), also known as chromatophore nevus of Naegeli and Naegeli syndrome, is a rare

autosomal An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosom ...

dominant form of ectodermal dysplasia, characterized by reticular skin pigmentation, diminished function of the sweat glands, the absence of teeth and

hyperkeratosis Hyperkeratosis is thickening of the stratum corneum (the outermost layer of the epidermis, or skin), often associated with the presence of an abnormal quantity of keratin,Kumar, Vinay; Fausto, Nelso; Abbas, Abul (2004) ''Robbins & Cotran Pathologi ...

of the palms and soles. One of the most striking features is the absence of

fingerprint A fingerprint is an impression left by the friction ridges of a human finger. The recovery of partial fingerprints from a crime scene is an important method of forensic science. Moisture and grease on a finger result in fingerprints on surfac ...

lines on the fingers. Naegeli syndrome is similar to

dermatopathia pigmentosa reticularis Dermatopathia pigmentosa reticularis (DPR) is a rare, autosomal dominant congenital disorder that is a form of ectodermal dysplasia. Dermatopathia pigmentosa reticularis is composed of the triad of generalizereticulate hyperpigmentation noncica ...

, both of which are caused by a specific defect in the keratin 14 protein.

Cause

NFJS is caused by mutations in the keratin 14 (KRT14) gene, located on

chromosome A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins ar ...

17q12-21. The disorder is inherited in an autosomal dominant manner, which means that the defective gene responsible for a disorder is located on an

autosome An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes ...

(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.

Diagnosis

In most cases of Naegeli syndrome, a diagnosis is made based on the typical clinical features of this condition. The diagnosis may be confirmed by genetic testing of the ''KRT14'' gene.

Treatment

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.

Eponym

It was named after Oskar Nägeli,

Adolphe Franceschetti Adolphe Franceschetti (11 October 1896, in Zürich – 3 March 1968, in Geneva) was a Swiss ophthalmologist. He studied medicine at the University of Zürich, where he also spent several years as an assistant in its ophthalmological clinic. A ...

, and Josef Jadassohn.

References

External links