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Case report (case report): feedback on an observation with a short commentary.
The Nageli-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 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.
Amyloid/*ultrastructure Child Colloids Ectodermal Dysplasia/genetics/*pathology Female Humans Male Microscopy, Electron, Scanning Middle Aged Skin/*ultrastructure Skin Pigmentation Syndrome
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