[Diagnosis by electron microscopy of recessive dystrophic epidermolysis bullosa]. / Diagnóstico por microscopía electrónica de la epidermolisis ampollar distrófica recesiva.

Inherited epidermolysis bullosa (EB) includes a number of distinctive diseases that are characterized by the presence of fragile skin and the tendency to develop blisters and erosions. The current classification separates the types of EB on the basis of the ultrastructural level of the blisters. The electron microscopy is very important for the diagnosis and in the recessive dystrophic EB shows that the lamina densa forms the roof of the blister and that the number of anchoring fibrils are absent or reduced. We present the case of a 30 year old woman with a diagnosis of recessive dystrophic EB diagnosed by electron microscopy.

Diagnóstico por microscopía electrónica de la epidermolisis ampollar distrófica recesiva. / [Diagnosis by electron microscopy of recessive dystrophic epidermolysis bullosa]

Inherited epidermolysis bullosa (EB) includes a number of distinctive diseases that are characterized by the presence of fragile skin and the tendency to develop blisters and erosions. The current classification separates the types of EB on the basis of the ultrastructural level of the blisters. The electron microscopy is very important for the diagnosis and in the recessive dystrophic EB shows that the lamina densa forms the roof of the blister and that the number of anchoring fibrils are absent or reduced. We present the case of a 30 year old woman with a diagnosis of recessive dystrophic EB diagnosed by electron microscopy.

[PCR determination of an association between class II HLA and pemphigus vulgaris]. / Determinación por PCR de la asociación entre antígenos HLA clase II y pénfigo vulgar.

Pemphigus vulgaris (PV) is an autoimmune blistering disease affecting the skin and mucous membranes. It is characterized by the presence of an autoantibody directed against desmoglein 3, which causes acantholysis and blister formation. In this study, we examined the HLA antigens of 30 caucasian argentinian patients compared with 199 controls. We used the PCR-SSO method (Polymerase Chain Reaction-Sequence Specific Oligonucleotide). We found that PV patients had significantly increased frequencies of HLA DR4 (RR = 3.80, P = 0.001) and HLA DR 14 (RR = 5.97, P = 0.0001). As in other populations, two associated alleles were found: the first was DR beta 1*0402 (RR = 44.70, P = 10.7) and DQ beta 1*0302 (RR = 71.82, P = 10(-7)) and the second was DR beta 1*1401 (RR = 117.94, P = 10(-7)) y DQ beta 1*0503 (RR = 86.95, P = 10(-7)).

Determinación por PCR de la asociación entre antígenos HLA clase II y pénfigo vulgar. / [PCR determination of an association between class II HLA and pemphigus vulgaris]

Pemphigus vulgaris (PV) is an autoimmune blistering disease affecting the skin and mucous membranes. It is characterized by the presence of an autoantibody directed against desmoglein 3, which causes acantholysis and blister formation. In this study, we examined the HLA antigens of 30 caucasian argentinian patients compared with 199 controls. We used the PCR-SSO method (Polymerase Chain Reaction-Sequence Specific Oligonucleotide). We found that PV patients had significantly increased frequencies of HLA DR4 (RR = 3.80, P = 0.001) and HLA DR 14 (RR = 5.97, P = 0.0001). As in other populations, two associated alleles were found: the first was DR beta 1*0402 (RR = 44.70, P = 10.7) and DQ beta 1*0302 (RR = 71.82, P = 10(-7)) and the second was DR beta 1*1401 (RR = 117.94, P = 10(-7)) y DQ beta 1*0503 (RR = 86.95, P = 10(-7)).