Recessive dystrophic epidermolysis bullosa: presentation of two forms.
Dystrophic epidermolysis bullosa (DEB) and aplasia cutis congenita (ACC), also known as congenital localized absence of skin (CLAS) are rare clinical entities. Aplasia cutis congenita presented in conjunction with simplex, junctional, or dystrophic types of epidermolysis bullosa (EB) is classified as type-6 ACC. This association was initially described and referred in the literature as Bart syndrome. We describe two cases of recessive DEB (RDEB), one with the major Hallopeau-Siemens (RDEB-HS) subtype and one case with the minor RDEB inversa (RDEB-I) subtype associated with ACC localized on the lower extremities. Full clinical history and transmission electron microscopic findings are presented for both cases. To date, only five cases of RDEB presenting with ACC have been reported in the literature. Detailed descriptions of the association of RDEB and ACC in the literature are scarce. It seems that this condition is probably more common in clinical practice than described in the literature. Our findings confirm that the term, Bart syndrome, should not be considered as a separate entity or clinical variant of dominant dystrophic EB as it was initially described. Congenital localized absence of skin may be associated with any of the three major types of EB (simplex, junctional, or dystrophic).
Medenica
Ljiljana
L
Department of Dermatovenereology, School of Medicine, University of Belgrade, Institute of Dermatovenereology, Clinical Center of Serbia, Belgrade, Pasterova. limed@EUnet.yu
Lens
Marko
M
D000328:Adult; D001485:Basement Membrane / Q000648:ultrastructure*; D004476:Ectodermal Dysplasia / Q000150:complications / Q000473:pathology; D016108:Epidermolysis Bullosa Dystrophica / Q000150:complications / Q000235:genetics / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D035002:Lower Extremity / Q000473:pathology; D008297:Male; D046529:Microscopy, Electron, Transmission; D009262:Nails / Q000473:pathology; D012867:Skin / Q000473:pathology* / Q000648:ultrastructure