Naegeli syndrome

Naegeli syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 29767
ICD10 =
ICD9 =
ICDO =
OMIM = 161000
MedlinePlus =
eMedicineSubj = derm
eMedicineTopic = 736
MeshID =

Naegeli syndrome (or Naegeli-Franceschetti-Jadassohn syndrome) [OMIM|161000] is a rare autosomal dominant [cite journal |pmid=16960809 |year=2006 |month=Oct |author=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 |title=Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14 |volume=79 |issue=4 |pages=724–30 |pmc=1592572 |doi=10.1086/507792 |journal=American journal of human genetics] 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, [cite journal |author=Schnur R, Heymann W |title=Reticulate hyperpigmentation |journal=Semin Cutan Med Surg. |volume=16 |issue=1 |pages=72–80 |year=1997 |pmid=9125768 |doi=10.1016/S1085-5629(97)80038-7] both of which are caused by a specific defect in the keratin 14 protein.

Eponym

It was named after Oskar Naegeli. [WhoNamedIt|synd|1417]

References


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