Naegeli syndrome and Naegeli–Franceschetti–Jadassohn syndrome: Difference between pages
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Naegeli syndrome (or Naegeli-Franceschetti-Jadassohn syndrome, also known as "Chromatophore nevus of Naegeli"[1]: 548 )[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.
Eponym
It was named after Oskar Naegeli.[5]
References
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
- ^ Online Mendelian Inheritance in Man (OMIM): 161000
- ^ Lugassy, J; Itin, P; Ishida-Yamamoto, A; Holland, K; Huson, S; Geiger, D; Hennies, Hc; Indelman, M; Bercovich, D; Uitto, J; Bergman, R; Mcgrath, Ja; Richard, G; Sprecher, E (2006). "Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14". American journal of human genetics. 79 (4): 724–30. doi:10.1086/507792. PMC 1592572. PMID 16960809.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Schnur R, Heymann W (1997). "Reticulate hyperpigmentation". Semin Cutan Med Surg. 16 (1): 72–80. doi:10.1016/S1085-5629(97)80038-7. PMID 9125768.
- ^ synd/1417 at Who Named It?
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