Background: Epidermolytic hyperkeratosis is a rare autosomal dominant condition affecting 1 in 2-300,000 people worldwide. There is very little evidence for surgical intervention, with management largely through dermatological treatments. This is a case of a 31-year-old patient with epidermolytic hyperkeratosis, who is wheelchair-bound as a result of restriction of movement from keratosis of both hands and feet. They have varying degrees of hyperkeratosis over their body, with reduced keratosis of their abdomen. They have previously undergone excision of the hyperkeratotic layers from their hands and feet, with recurrence over the course of six months. Further excision was warranted in light of the restoration of function and improvement of quality of life. The aims of treatment were to restore functional movement, including the release of a first webspace contracture of their left hand with a full thickness skin graft.
Methods: Excision of the keratotic tissue in the sub-keratotic plane was completed as previously, along with the contracture release, with the graft taken from their left inguinal region.
Results: At five months post-excision and contracture release, the grafted webspace remains patent, with significantly less disease recurrence at the grafted site compared to recurrence in the surrounding native tissue. The donor site healed with no complications. Hyperkeratosis of their feet has slowly recurred.
Conclusions: After five months, surgical excision has provided symptomatic relief for epidermolytic hyperkeratosis in this patient. This previously undocumented technique of skin grafting from a less keratotic area has significantly reduced recurrence compared to native skin. Further surgery is planned, including more transfer grafting to establish whether disease progression can continue to be slowed.