AbstractA typical feature of Kindler Syndrome is skin fragility; this condition in currently classified as a form of epidermolysis bullosa. We describe a rarely reported feature of two cases, one sporadic and one familial; both patients noticed acquired adermatoglyphia. The loss of dermatoglyphics could be an additional feature of this syndrome.

Na epidermólise bolhosa distrófica, o defeito genético das fibrilas de ancoragem leva à clivagem abaixo da membrana basal com sua consequente perda. Uma paciente de 46 anos apresentava bolhas pré-tibiais associadas à distrofia ungueal. Seus dois filhos apresentavam hipo e anoníquia, afetando todas as unhas dos pododáctilos e dos primeiros, segundos e terceiros quirodáctilos. O sequenciamento de DNA identificou no exon 75 do gene COL7A1 uma mutação patológica: c.6235G>A (p.Gly2079Arg). O imunomapeamento identificou o colágeno IV no teto e colágeno VII no assoalho de uma bolha , confirmando o diagnóstico de epidermólise bolhosa distrófica. A microscopia eletrônica de varredura de um teto invertido de bolha demonstrou rede de colágeno aderida ao mesmo. A variabilidade clínica encontrada nessa família já foi escrita e confirma, que o subtipo ungueal das epidermólises bolhosas é uma forma distrófica.

In dystrophic epidermolysis bullosa, the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane and its consequent loss. A 46 year-old female patient presented blisters with a pretibial distribution associated with nail dystrophy. Her two children had hyponychia and anonychia, which affected all toe nails and the thumb, forefinger and middle finger. DNA sequencing identified in exon 75 of COL7A1 gene a pathologic mutation: c.6235G>A (p.Gly2079Arg). Immunomapping of a blister demonstrated collagen IV (basal membrane) in the blister roof and collagen VII in its floor, confirming dystrophic epidermolysis bullosa. Scanning electron microscopy of an inverted blister showed net-forming collagen attached to the blister roof . The variability found in this family has already been reported and confirms, on a clinical basis, the nail subtype as a dystrophic variant.