Naegeli syndrome
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| OMIM | 161000 |
|---|---|
| DiseasesDB | 29767 |
| eMedicine | derm/736 |
Naegeli syndrome (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 comparable to Dermatopathia pigmentosa reticularis, both of which is caused by a specific defect in the keratin 14 protein.
[edit] References
- Schnur R, Heymann W (1997). "Reticulate hyperpigmentation.". Semin Cutan Med Surg 16 (1): 72-80. PMID 9125768.
[edit] External links
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