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Naegeli–Franceschetti–Jadassohn syndrome

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Title: Naegeli–Franceschetti–Jadassohn syndrome  
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Subject: List of diseases (N), Fingerprint, List of eponyms (L–Z), Dermatoglyphics, Dermatopathia pigmentosa reticularis
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Naegeli–Franceschetti–Jadassohn syndrome

Naegeli–Franceschetti–Jadassohn syndrome
Classification and external resources
OMIM DiseasesDB eMedicine derm/736

Naegeli–Franceschetti–Jadassohn syndrome (NFJS), also known as chromatophore nevus of Naegeli and Naegeli syndrome,[1][2] is a rare autosomal dominant[3] form of ectodermal dysplasia, characterized by reticular skin pigmentation, diminished function of the sweat glands, the absence of teeth and hyperkeratosis of the palms and soles. One of the most striking features is the absence of fingerprint lines on the fingers.

Naegeli syndrome is similar to Dermatopathia pigmentosa reticularis,[4] both of which are caused by a specific defect in the keratin 14 protein.

Cause and Genetics

NFJS is caused by mutations in the keratin 14 (KRT14) gene, located on chromosome 17q12-21.[3][5] The disorder is inherited in an autosomal dominant manner, which means that the defective gene responsible for a disorder is located on an autosome (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.

Eponym

It was named after Oskar Nägeli.[6]

See also

References

Template:Cytoskeletal defects

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