Lipoid proteinosis in a Chinese patient.
Am J Dermatopathol
; 36(6): e108-13, 2014 Jun.
Article
em En
| MEDLINE
| ID: mdl-24521736
ABSTRACT
Lipoid proteinosis is a rare autosomal recessive deposition disorder due to loss-of-function mutations in the gene encoding extracellular matrix protein 1 on chromosome 1q21. There are limited case reports of lipoid proteinosis in the Chinese population. The authors report 1 case of lipoid proteinosis in a Chinese patient with typical clinical and histopathological manifestations. Physical examination in this patient demonstrated hoarse voice, hypertrophy of tongue and lips, inability to fully protrude the tongue, and cutaneous features including moniliform blepharosis, verrucous plaques, and scarring. Biopsies from the eyelid, pharyngeal mucosa, and elbow lesions revealed diffuse amorphous deposits of hyaline material within the dermis and around blood vessels, which stained positively for periodic acid-Schiff, was diastase resistant and stained negatively on Congo red.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article