The Nageli-Franceschetti-Jadassohn syndrome: A hereditary ectodermal defect leading to colloid-amyloid formation in the dermis

Détails

ID Serval
serval:BIB_84F33EDE12A0
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
The Nageli-Franceschetti-Jadassohn syndrome: A hereditary ectodermal defect leading to colloid-amyloid formation in the dermis
Périodique
Dermatology
Auteur(s)
Frenk  E., Mevorah  B., Hohl  D.
ISSN
1018-8665 (Print)
Statut éditorial
Publié
Date de publication
1993
Volume
187
Numéro
3
Pages
169-73
Notes
Case Reports
Journal Article
Résumé
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.
Mots-clé
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
Création de la notice
25/01/2008 17:36
Dernière modification de la notice
03/03/2018 18:56
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