Bullous Pemphigoid in X-linked Alport Syndrome

Intern Med. 2023 Aug 15;62(16):2375-2379. doi: 10.2169/internalmedicine.0972-22. Epub 2022 Dec 21.

Abstract

Skin lesions in X-linked Alport syndrome (XLAS) are rarely observed. Bullous pemphigoid (BP) is caused by autoantibodies against BP180, also called α1 (XVII) chain, in the basement membrane zone (BMZ). A 48-year-old man with XLAS developed tense blisters. A skin biopsy showed a cleft between the basal cell layer and dermis, with the infiltration of neutrophils and eosinophils. α1 (XVII) staining was positive on the epidermal side of α2/5 (IV) staining. Oral prednisolone improved his symptoms gradually. Abundant tense blisters on the palms and soles might suggest an important role of the α5 (IV) chain in the integrity of BMZ.

Keywords: COL4A5; X-linked Alport syndrome; basement membrane zone; bullous pemphigoid.

Publication types

  • Case Reports

MeSH terms

  • Blister / etiology
  • Humans
  • Male
  • Middle Aged
  • Nephritis, Hereditary* / complications
  • Pemphigoid, Bullous* / etiology

Substances

  • COL4A5 protein, human