Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2023 Aug 15;62(16):2375-2379.
doi: 10.2169/internalmedicine.0972-22. Epub 2022 Dec 21.

Bullous Pemphigoid in X-linked Alport Syndrome

Masahiro Yamawaki  1 , Kan Katayama  1 , Mika Fujimoto  1 , Hiroyuki Goto  2 , Hiroto Yuasa  3 , Yuji Kozuka  3 , Mutsuki Mori  1 , Daisuke Takahashi  1 , Ryosuke Saiki  1 , Yosuke Hirabayashi  1 , Tomohiro Murata  1 , Keiichi Yamanaka  2 , Kaoru Dohi  1
Affiliations
Case Reports

Bullous Pemphigoid in X-linked Alport Syndrome

Masahiro Yamawaki et al. Intern Med. .

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.

PubMed Disclaimer

Conflict of interest statement

Author's disclosure of potential Conflicts of Interest (COI).

Kaoru Dohi: Honoraria, Otsuka Pharmaceutical, Novartis Pharma, Daiichi Sankyo, Nippon Boehringer Ingelheim, Bayer Yakuhin, Kowa, and AstraZeneca; Research funding, Shionogi, Sumitomo Dainippon Pharma, Takeda Pharmaceutical, Novartis Pharma, Otsuka Pharmaceutical, Daiichi Sankyo, Ono Pharmaceutical, Kowa, and Abbott Medical Japan.

Figures

Figure 1.
Figure 1.
(a) A genetic analysis identified COL4A5 c.404 G>A (p.G135D). (b) Many tense blisters and erosions were observed on the right sole. (c) The results of a skin biopsy showed a cleft between the basal cell layer and the dermis (left panel, bar=500 μm), and a high-magnification view of the open black rectangle showed infiltration of neutrophils and eosinophils just below the cleft (right panel, bar=50 μm). (d) An immunofluorescence study showed strong staining of complement 3 and weak staining of immunoglobulin G (IgG) along the basal cell layer, while there was no staining of IgA or IgM along the basal cell layer. Bars=50 μm.
Figure 2.
Figure 2.
Triple staining with rabbit anti-α1 (XVII) and rat anti-α2/5 (IV) antibodies showed α1 (XVII) staining was positive on the epidermal side of the α2/5 (IV)-stained section (arrows). α5 (IV) showed a mosaic pattern, while α2 (IV) showed a linear pattern (arrowheads). Bars=100 μm.
Figure 3.
Figure 3.
The clinical course. BPDAI: bullous pemphigoid disease area index
See this image and copyright information in PMC

References

    1. Barker DF, Hostikka SL, Zhou J, et al. . Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248: 1224-1227, 1990. - PubMed
    1. Kashtan CE. Alport syndrome: achieving early diagnosis and treatment. Am J Kidney Dis 77: 272-279, 2021. - PubMed
    1. Kashtan CE, Segal Y, Flinter F, Makanjuola D, Gan JS, Watnick T. Aortic abnormalities in males with Alport syndrome. Nephrol Dial Transplant 25: 3554-3560, 2010. - PMC - PubMed
    1. Antignac C, Heidet L. Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis. Contrib Nephrol 117: 172-182, 1996. - PubMed
    1. Kashtan CE. Alport syndrome and thin glomerular basement membrane disease. J Am Soc Nephrol 9: 1736-1750, 1998. - PubMed

Publication types

Substances