[Pseudoxanthoma elasticum: a study of 22 cases].

Abstract

Pseudoxanthoma elasticum is a heritable connective-tissue disorder affecting the eye, skin, and vascular system. The aim of our study was to specify the epidemiological and clinical characteristics of this disease in a hospital series. A total of 22 patients were included during a period of 19 years. There were 15 women and 7 men. Patient's mean age was of 36,1 years. Parental inbreeding was reported in 10 cases. However, the parents were apparently healty. All patients exhibited cutaneous signs. The association between pseudoxanthoma elasticum and elastosis perforans serpiginosa was reported in two cases. The histological features were characteristic in all cases. The ophthalmologic examination realized on 13 patients revealed angioid streaks in 6 cases and a orange peel aspect in one case. Cardiac evaluation performed in 11 patients did not reveal specific PXE abnormalities. A follow-up was recommended in the majority of the cases. In conclusion, a family history of PXE was frequently reported in our study mainly among brothers and sisters. The disease was probably of autosomal recessive transmission. Cutaneous lesions were often the first signs. A list of laboratory investigations is useful to search for asymptomatic visceral localizations and specify their frequency.

• Authors: H Hammami, T Badri, R Benmously, N Kenani, N Sliti, I Mokhtar, S Fenniche
• Journal: Revue medicale de Liege (Rev Med Liege) Vol. 64 Issue 12 Pg. 629-32 (Dec 2009) ISSN: 0370-629X [Print] Belgium
• Vernacular Title: Le pseudoxanthome elastique: etude de 22 cas.
• PMID: 20143747 (Publication Type: English Abstract, Journal Article)

Topics

• Adolescent
• Adult
• Aged
• Aged, 80 and over
• Eye Diseases, Hereditary (diagnosis)
• Female
• Humans
• Male
• Middle Aged
• Pseudoxanthoma Elasticum (diagnosis, genetics)