The Nägeli-Franceschetti-Jadassohn syndrome: A hereditary ectodermal defect leading to colloid-amyloid formation in the dermis.
Light- and electron-microscopical examination of 4 skin biopsies from 2 members of the initially described family with Nägeli-Franceschetti-Jadassohn syndrome revealed that the already reported pigment incontinence is accompanied by varying amounts of colloid-amyloid bodies located in the superficial dermis. Occasionally, such bodies could also be seen around sweat glands in the reticular dermis. These findings indicate that cutaneous colloid-amyloid formation could be a pathogenic factor in the phenotypic expression of this autosomal dominant syndrome.
Frenk
E
E
Department of Dermatology, University Hospital, Lausanne, Switzerland.
Mevorah
B
B
Hohl
D
D
D000682:Amyloid / Q000648:ultrastructure*; D002648:Child; D003102:Colloids; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D008855:Microscopy, Electron, Scanning; D008875:Middle Aged; D012867:Skin / Q000648:ultrastructure*; D012880:Skin Pigmentation; D013577:Syndrome
D000682:Amyloid; D003102:Colloids