The Nageli-Franceschetti-Jadassohn syndrome: A hereditary ectodermal defect leading to colloid-amyloid formation in the dermis
Details
Serval ID
serval:BIB_84F33EDE12A0
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
The Nageli-Franceschetti-Jadassohn syndrome: A hereditary ectodermal defect leading to colloid-amyloid formation in the dermis
Journal
Dermatology
ISSN
1018-8665 (Print)
Publication state
Published
Issued date
1993
Volume
187
Number
3
Pages
169-73
Notes
Case Reports
Journal Article
Journal Article
Abstract
Light- and electron-microscopical examination of 4 skin biopsies from 2 members of the initially described family with Nageli-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.
Keywords
Amyloid/*ultrastructure
Child
Colloids
Ectodermal Dysplasia/genetics/*pathology
Female
Humans
Male
Microscopy, Electron, Scanning
Middle Aged
Skin/*ultrastructure
Skin Pigmentation
Syndrome
Pubmed
Web of science
Create date
25/01/2008 17:36
Last modification date
20/08/2019 15:44