Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.

Background: Dystrophic epidermolysis bullosa (DEB) is a clinically heterogeneous blistering disorder of the skin and mucous membranes. DEB is caused by mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils. On the basis of the mode of inheritance and the clinical manifestations, DEB is classified into two major subtypes: one dominant (DDEB) and one recessive (RDEB).

Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis.

Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis caused by mutations in the type VII collagen gene COL7A1. Clinical diagnosis of DEB should be confirmed by histopathological and electron microscopy analysis, which is not always accessible. We report here a genetic investigation of DEB consanguineous families in Tunisia.

[Fixed drug eruption : about 13 cases].

Aim: To discuss, through a retrospective study, the epidemiological and clinical aspects and the causative agents of fixed drug eruption.

Methods: Thirteen cases were collected retrospectively during 11 years. There were 10 females and 3 males with a mean age of 44 years.

Systemic lupus erythematosus with celiac disease: a report of five cases.

Systemic lupus erythematosus and celiac disease (CD) are rarely reported in combination. We report five cases seen over a 4-year period. The two conditions occurred concomitantly in one patient, whereas the CD antedated the lupus in one patient and postdated the lupus in the remaining three patients.