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Sibling Cases of Hailey-Hailey Disease Showing Atypical Clinical Features and Unique Disease Course

Shigeruko Iijima, MD1; Takahiro Hamada, MD2; Mirei Kanzaki, MD1; Chika Ohata, MD2; Takashi Hashimoto, MD2
[+] Author Affiliations
1Department of Dermatology, Mito Saiseikai General Hospital, Mito, Ibaraki, Japan
2Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Fukuoka, Japan
JAMA Dermatol. 2014;150(1):97-99. doi:10.1001/jamadermatol.2013.5666.
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Hailey-Hailey disease (HHD), a well-characterized autosomal dominant hereditary disease, is caused by mutation in ATP2C1 gene and clinically shows characteristic erosive lesions predominantly on the intertriginous areas.13 We herein report sibling cases of HHD with novel mutations in the ATP2C1 gene that showed unique and atypical clinical phenotypes mimicking seborrheic dermatitis, pemphigus vulgaris, or pemphigus foliaceus as well as considerable alterations during the disease course.

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Figure 1.
Clinical and Histopathologic Features of Case 1 and Case 2 at the First Visit

A and B, Skin lesions on the neck (A) and abdomen (B) in case 1. Clinical features on the neck in case 2 (C). D and E, Histopathologic features (hematoxylin-eosin) from the abdomen in case 1 (D, original magnification ×100) and the neck in case 2 (E, original magnification ×200)

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Figure 2.
The Results of Immunologic and Genetic Studies for Case 1

A and B, The results of IgG indirect immunofluorescence studies of monkey esophagus (A) and rat bladder (B) (original magnification ×200 for both). C, The results of ATP2C1 gene analysis of genomic DNA for case 1 (top) and healthy control individual (bottom), showing a heterozygous G>C transition at first residue in intron 11 only in the patient (down-pointing arrow).

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