Naegeli syndrome
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| Naegeli syndrome Classification and external resources |
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| OMIM | 161000 |
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| DiseasesDB | 29767 |
| eMedicine | derm/736 |
Naegeli syndrome (or Naegeli-Franceschetti-Jadassohn syndrome) is a rare autosomal dominant 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,[1] both of which is caused by a specific defect in the keratin 14 protein.
[edit] Eponym
It was named after Oskar Naegeli.[2]
[edit] References
- ^ Schnur R, Heymann W (1997). "Reticulate hyperpigmentation". Semin Cutan Med Surg. 16 (1): 72–80. doi:. PMID 9125768.
- ^ synd/1417 at Who Named It
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