Genodermatoses are quite frequent in developing countries where consanguinity is common but usually under reported and undiagnosed. Main reason being lack of accessibility to tertiary health care facilities for people rural areas as evident case below. Genetic counselling pre natal testing utmost importance affected families. Epidermolysis bullosa pruriginosa (EBP) a rare less recognized varian...

a Departamento de Dermatología, Hospital Infantil del Niño Jesús, Madrid, Spain b Departamento de Dermatología, Hospital La Paz, Madrid, Spain c Departamento de Dermatología, Hospital Sant Joan de Deu, Barcelona, Spain d Departamento de Dermatología, Hospital Santa Creu y Sant Pau, Barcelona, Spain e Director of DeBRA, Spain f Enfermera del Centro de Referencia Estatal de Atención a personas co...

Previous studies have correlated the Herlitz junctional epidermolysis bullosa (H-JEB) to an altered expression of the basement membrane component nicein/kalinin. This heterotrimeric glycoprotein appears to be present in H-JEB tissues in an abnormal form, because a number of antibodies specific to the protein either do not react with or weakly stain the epidermal basement membranes of most of th...