No abstract

Epidermolysis bullosa dystrophica inversa (DEB-I) is a very rare disease characterized by autosomal recessive inheritance that causes blistering and erosions on the trunk and extremities occurring in early infancy with a predilection for flexural and mucosal areas thereafter. Ultrastructural findings show dermolytic blistering and absent or rudimentary anchoring fibrils as in generalized forms of dystrophic epidermolysis bullosa. Immunoreactivity for type VII collagen, however, is preserved. We present two patients with DEB-I with compound heterozygosity for the two different COL7A1 mutations, one of them (Arg2069Cys in exon 74) carried by the heterozygous mother, the other one (Lys142Arg in exon 3) carried by the heterozygous father, accompanied by absence of the associated anchoring fibrils protein GDA-J/F3.

Background: A longer duration treatment is preferred in erythema migrans (EM) to prevent late complaints. Objectives: To determine whether 20 (20d-pt) or 14 days (14d-pt) of phenoxymethylpenicillin (PenV) have similar efficacy in treating EM and preventing further sequelae. Patients and Methods: In a prospective double-centre study, 102 patients with EM were treated with PenV 1.5 million IU thrice daily for either 20 or 14 days and followed up for 12 months. Results: The primary cure rate after treatment with PenV was 91.5% (79.6–97.6) for 20d-pt vs. 91.7% (77.5–98.2) for 14d-pt; p > 0.99). In 7 patients (4/20d-pt and 3/14d-pt), persistent or newly arising symptoms required retreatment. After 1 year, all patients were cured. The immune response showed no statistical difference between the treatment groups in the follow-up period. Conclusion: A 2-week treatment regimen of PenV seems to be as effective as a 3-week course with no statistical differences for clinical and serological findings after treatment.

Location and hepatic and renal disease are the most important risk factors, while diabetes is probably of less significance than previously suggested.