Darier's disease

Abstract

Darier's disease is an autosomal dominant genodermatosis, caused by a mutation in the ATP2A2 gene that codes for an ATPase calcium pump of the endoplasmic reticulum called SERCA2b, responsible for intracellular signaling pathways that facilitate the assembly of desmosomal proteins. The alteration in the transport of these molecules reduces the adhesion of the desmosomes to the keratin filaments, generating epidermal acantholysis and cell apoptosis.

Clinically, it usually manifests between the second and third decades of life as keratotic and scaly papules and plaques, predominantly in seborrheic areas, which are susceptible to superinfection by viruses, bacteria, and fungi. It can present with palmar-plantar, nail and mucosal involvement, as well as extracutaneous neuropsychiatric, renal and ocular manifestations. Clinical subtypes include the variants: acral hemorrhagic, vesicular-bullous, comedonal, and localized.

Diagnosis is based on a thorough medical history and confirmed with a skin biopsy, genetic testing being rare. Management and current treatment are symptomatic, avoiding aggravating factors of the pathology (ultraviolet light, heat, sweat, humidity, local infections and the use of lithium) and using topical drugs that reduce skin inflammation or have a keratolytic effect, such as corticosteroids, salicylic acid and retinoids. Systemic treatment with retinoids is usually reserved for severe cases. Other therapeutic modalities include surgical excision, electrosurgery, laser ablation, or dermabrasion for refractory cases. The use of antiperspirant drugs and skin allografts is still under study.

A review of Darier's disease is presented to deepen the general knowledge about this pathology, highlighting the etiopathogenesis, clinical manifestations, diagnosis and current treatment, in order to establish an adequate differential diagnosis of acantholytic diseases.