Naegeli–Franceschetti–Jadassohn syndrome

The Naegeli syndrome, also known as Naegeli - Franceschetti - Jadassohn syndrome ( NFJS ) and NFJ syndrome called, is a very rare genetic disease that is inherited as an autosomal dominant trait. It is a form of anhidrotic reticular Pigmentdermatose (skin disease).

Cause

The Naegeli syndrome is inherited as an autosomal dominant trait. This affects the keratin 14 gene ( KRT14 ) is located on chromosome 17 q11.2 - q21 locus.

Prevalence

The Naegeli syndrome is a very rare genetic disease. So far, five multi-family generations are described in the literature. Men and women are affected equally.

Symptoms and complaints

All affected by Naegeli syndrome patients have skin changes, such as the lack of fingerprints ( dermatoglyphics ) and a net-like hyper - pigmentation of the skin, which again decreases with increasing age. Likewise, changes in the sweat glands ( anhidrosis ) to observe the result that patients can secrete only reduces sweat. This is the main problem for most NFJS patients.

In many, but not all, patients changes in the dentine, blistering of the skin and deformations are observed at the toenails. The teeth of almost all patients affected by the disease and usually go at a young age completely lost.

The symptoms are similar to the Bloch- Sulzberger syndrome.

Therapy

There is no known causal treatment. Treatment is symptomatic.

Naming

The disease is named after the Swiss dermatologist Oskar Naegeli (1885-1959) named, who in 1927 first described at a Swiss family in which the father and two of his daughters were affected.

In a second 1954 study on this family could Adolphe Franceschetti ( 1896-1968 ) and Werner Jadassohn ( 1897-1973 ) clarify the autosomal dominant inheritance of the disease.

65 years after the discovery of the Naegeli family was re-examined. Of the now 62 members of the family tree 14 people from Naegeli syndrome were affected.

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