Contents
pdf Download PDF pdf Download XML
107 Views
30 Downloads
Share this article
Research Article | Volume 6 Issue 1 (None, 2012) | Pages 29 - 33
Clinical and laboratory findings in 8 patients with Bloom's syndrome
 ,
 ,
 ,
 ,
 ,
 ,
 ,
 ,
Under a Creative Commons license
Open Access
PMID : PMC3322108
Received
May 22, 2011
Published
March 27, 2012
Abstract

Bloom's syndrome is a rare autosomal recessive disorder caused by germline mutation of the BLM gene. The objective of this study was to illustrate the clinical, biological and genetic characteristics of this syndrome through Tunisian series. We report in a retrospective study 8 case of bloom's syndrome observed during 20 years.Results:Our patients were 4 males and 4 females issued from 5 families. For all patients, the parents were consanguineous. The age was 13 to 39 years. The telangiectatic erythema was developed in all the patients between 6 months and 2 years old on the cheeks, on the nose, on the lips and the lower eyebrows. The photosensitivity was constant and was complicated by vesicules and bullae for 5 patients who had extensive lesions, three patients noted accentuation of their telangiectasic erythema. An improvement with the age was noticed for the first four patients. The growth deficiency was observed for all patients. It was marked, between -2 and -4 DS (standard deviation). The number of sister chromatid exchange was increased to twelve fold comparatively to normal subjects. Two patients developed a breast cancer; the evolution was fatal in one. Another patient developed a leukaemia, the evolution was also fatal.Conclusion:Bloom's syndrome is a rare genodermatitis. All the patients presented three symptoms: telangiectatic erythema, growth delay and photosensitivity associated with immunodeficiency. There is significant risk of cancer, so that follow up of patients is mandatory.

Keywords
Recommended Articles
Case Report
Concurrent Lepra Reactions; Type 1 and Type 2 in a young male patient with borderline leprosy: Clinical and Histopathological correlation
...
Published: 02/09/2025
Original Article
Comparative Evaluation of Intralesional Corticosteroid Injection and Surgical Excision in Hypertrophic Scar Treatment
...
Published: 04/06/2022
Research Article
Efficacy of supra bioavailable itraconazole and conventional itraconazole at different dosing regimens in glabrous tinea infection
Published: 02/02/2024
Research Article
Multiple eruptive periungual pyogenic granulomas during anti-CD20 monoclonal antibody therapy for rheumatoid arthritis
Published: 19/12/2010
© Copyright Spejalisci Dermatolodzy