A case of generalized Hailey-Hailey disease with fatal liver injury

Masayuki Amagai, Masakazu Kobayashi, Kanji Wakabayashi, Megumi Hakuno, Akinori Hashiguchi, Takeji Nishikawa, Jun Ichi Hata

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Abstract

We report a case of a 59-year-old man with a severe generalized form of Hailey-Hailey disease that was complicated by fatal liver injury. Erosive lesions were first noted in the axillary and perianal regions at 15 year of age, and Hailey-Hailey disease was diagnosed based on the clinical features and histologic findings in skin biopsy specimens. The patient was treated with at first topical steroids and later a low dose of a corticosteroid, but the skin lesions gradually became generalized. At 45 years of age liver dysfunction was detected after azathioprine and vinblastine treatment for the generalized skin lesions. The liver injury gradually progressed and finally the patient died. The gene responsible for Hailey-Hailey disease was recently identified as ATP2C1, and it encodes a Ca2+-transport ATPase with broad expression, including in skin and liver. This finding suggests that mutation of the ATP2C1 gene may give rise to an extracutaneous phenotype, such as the liver dysfunction observed in severe cases, including our own. Further accumulation of cases is necessary to determine whether this is true.

Original languageEnglish
Pages (from-to)109-116
Number of pages8
JournalKeio Journal of Medicine
Volume50
Issue number2
Publication statusPublished - 2001 Jun

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Benign Familial Pemphigus
Skin
Liver
Wounds and Injuries
Liver Diseases
Calcium-Transporting ATPases
Vinblastine
Azathioprine
Genes
Adrenal Cortex Hormones
Steroids
Phenotype
Biopsy
Mutation

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Amagai, M., Kobayashi, M., Wakabayashi, K., Hakuno, M., Hashiguchi, A., Nishikawa, T., & Hata, J. I. (2001). A case of generalized Hailey-Hailey disease with fatal liver injury. Keio Journal of Medicine, 50(2), 109-116.

A case of generalized Hailey-Hailey disease with fatal liver injury. / Amagai, Masayuki; Kobayashi, Masakazu; Wakabayashi, Kanji; Hakuno, Megumi; Hashiguchi, Akinori; Nishikawa, Takeji; Hata, Jun Ichi.

In: Keio Journal of Medicine, Vol. 50, No. 2, 06.2001, p. 109-116.

Research output: Contribution to journalArticle

Amagai, M, Kobayashi, M, Wakabayashi, K, Hakuno, M, Hashiguchi, A, Nishikawa, T & Hata, JI 2001, 'A case of generalized Hailey-Hailey disease with fatal liver injury', Keio Journal of Medicine, vol. 50, no. 2, pp. 109-116.
Amagai M, Kobayashi M, Wakabayashi K, Hakuno M, Hashiguchi A, Nishikawa T et al. A case of generalized Hailey-Hailey disease with fatal liver injury. Keio Journal of Medicine. 2001 Jun;50(2):109-116.
Amagai, Masayuki ; Kobayashi, Masakazu ; Wakabayashi, Kanji ; Hakuno, Megumi ; Hashiguchi, Akinori ; Nishikawa, Takeji ; Hata, Jun Ichi. / A case of generalized Hailey-Hailey disease with fatal liver injury. In: Keio Journal of Medicine. 2001 ; Vol. 50, No. 2. pp. 109-116.
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