AI Article Synopsis

  • Darier's disease (DD) is a rare genetic disorder linked to ATP2A2 mutations, resulting in skin issues like red or brown hyperkeratotic lesions.
  • The report details a case in Japan where an 18-year-old female with no family history of DD was successfully treated with apremilast after exome sequencing confirmed her diagnosis.
  • After eight weeks of treatment, her skin lesions showed significant improvement, highlighting the potential of apremilast for treating similar skin disorders like Hailey-Hailey disease (HHD).

Article Abstract

Darier's disease (DD) is a rare autosomal dominant genetic disorder caused by a mutation in ATP2A2, which encodes calcium (Ca) ATPase pumps in the endoplasmic reticulum. In this report, we present the first documented case in Japan successfully treated with apremilast. An 18-year-old female presented with red or brown hyperkeratotic papules and plaques on her head, neck, and chest. Histopathological examination revealed a hyperkeratotic, acanthotic epidermis, along with suprabasal acantholysis characterized by corps ronds and grains. Exome sequencing of DNA from peripheral blood mononuclear cells identified a missense mutation in ATP2A2. Based on the above results, we diagnosed her with DD despite the absence of a family history. Given the effectiveness of apremilast, a phosphodiesterase 4 inhibitor, in treating Hailey-Hailey disease (HHD), a genetically related disorder involving ATPases in epidermal calcium channels, we opted for apremilast therapy. Eight weeks post-initiation, significant improvement was observed in the patient's skin lesions on the head, neck, and chest. In this paper, we discuss the successful treatment of DD and HHD cases with apremilast, providing insights into its therapeutic potential, and offer a comprehensive review.

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Source
http://dx.doi.org/10.1111/1346-8138.17392DOI Listing

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