Abstract

Introduction: Epidermolytic hyperkeratosis (EH) is a rare and severe form of ichthyosis with occurrence in 1 of 300,000 persons. EH is an autosomal dominant condition caused by mutations in keratin 1 and keratin 10. Few published literature owing to the rarity of the condition has limited the treatment options for EH. Traditional management with emollients are unsatisfactory in relieving the concerns of the patients, including the odor attributed to bacterial colonization, skin thickness and hyperpigmentation. EH is a severely debilitating disorder impairing the personal, social and economic activities of patients affected, further adding to the cost of management.

Case Summary: We report of a case of EH, managed with acitretin with substantial improvement leading to a return of some of her social and economic functioning. A 26 year female presented to us with generalized hyperpigmented thick plaques with scales on the trunk and extremities. Biopsy confirming EH showed hyperkeratosis and orthokeratosis of the stratum corneum. It also showed acanthosis of the epidermis with hypergranulosis and acantholysis of keratocytes in the granular and upper spinous layers. The dermis revealed a mild superficial perivascular inflammatory infiltrates of lymphocytes. Acitretin 10 mg per day was given (0.2 mg/ kg) for 2 months leading to improvement in skin lesions. Acitretin has been postulated to induce keratinocyte proliferation and reduce epidermal hyperplasia.

Conclusion: This case has demonstrated the promising role of acitretin in optimally managing Epidermolytic Hyperkeratosis.

Citation

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Keywords

Epidermolytic hyperkeratosis, congenital ichthyosis, acitretin