Late-onset pretibial recessive dystrophic epidermolysis bullosa.

[dystrophic epidermolysis bullosa]

Pretibial epidermolysis bullosa (EB ) is a rare form of localized dystrophic EB , characterized by recurrent blistering and scarring plaques occurring predominantly in the pretibial area . In most cases , nail dystrophy , especially of the toenails , is also present . Often there are no clinical abnormalities at birth , and the disorder may only appear after several years . We report a patient who developed symptoms in his fifth decade . Genetic testing identified compound heterozygosity for two pathogenic mutations in the COL 7 A 1 gene . This case highlights a rare variant of mechanobullous disease , and stresses the importance of molecular screening in establishing a correct diagnosis . Precisely why the disorder specifically localizes to the shins or why it may only become apparent in later life is not known .

Diseases
Validation

Diseases presenting "nail dystrophy" symptom

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

junctional epidermolysis bullosa

kindler syndrome

lamellar ichthyosis

This symptom has already been validated