Observation |

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.
Text Size: A A A
Published online


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.

Figures in this Article

Sign In to Access Full Content

Don't have Access?

Register and get free email Table of Contents alerts, saved searches, PowerPoint downloads, CME quizzes, and more

Subscribe for full-text access to content from 1998 forward and a host of useful features

Activate your current subscription (AMA members and current subscribers)

Purchase Online Access to this article for 24 hours

First Page Preview

View Large
First page PDF preview


Place holder to copy figure label and caption
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)

Graphic Jump Location
Place holder to copy figure label and caption
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).

Graphic Jump Location




Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).
Submit a Comment


Some tools below are only available to our subscribers or users with an online account.

Sign In to Access Full Content

Related Content

Customize your page view by dragging & repositioning the boxes below.

Articles Related By Topic
Related Topics
CME Related by Topic