Hailey Hailey Disease

Common Name(s)

Hailey Hailey Disease, Familial benign pemphigus, Hailey-Hailey Disease

Hailey-Hailey disease is an inherited condition characterized by recurrent blisters seen primarily on the neck, groin, and axillae (armpit). Precipitating factors include heat, sweating, skin infection, and ultraviolet radiation. The disorder often becomes apparent after puberty, usually by the third or fourth decade, but symptoms can develop at any age.  Hailey-Hailey disease occurs due to a mutation in a specific gene (ATP2C1) that creates a protein that is essential for skin health. There is no cure for this condition. Treatment is aimed at reducing symptoms and preventing flare-ups. This condition is inherited in an autosomal dominant fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hailey Hailey Disease" for support, advocacy or research.

Hailey-Hailey Disease Society

Our primary mission is the dissemination of free, correct and useful information and support for HHD patients and the health care community. We support an informational website and forum and manage the Yahoo Group, TalkHHD.

Last Updated: 8 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hailey Hailey Disease" for support, advocacy or research.

Hailey-Hailey Disease Society

Our primary mission is the dissemination of free, correct and useful information and support for HHD patients and the health care community. We support an informational website and forum and manage the Yahoo Group, TalkHHD.

http://haileyhailey.com

Last Updated: 8 Mar 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hailey Hailey Disease" returned 44 free, full-text research articles on human participants. First 3 results:

Oral magnesium chloride: A novel approach in the management of Hailey-Hailey disease.
 

Author(s): Nitin G Barde, Dharmendra B Mishra, Shraddha O Ingole

Journal: Indian J Dermatol Venereol Leprol. ;83(2):259-262.

 

Last Updated: 31 Dec 1969

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The loss of ATP2C1 impairs the DNA damage response and induces altered skin homeostasis: Consequences for epidermal biology in Hailey-Hailey disease.
 

Author(s): Samantha Cialfi, Loredana Le Pera, Carlo De Blasio, Germano Mariano, Rocco Palermo, Azzurra Zonfrilli, Daniela Uccelletti, Claudio Palleschi, Gianfranco Biolcati, Luca Barbieri, Isabella Screpanti, Claudio Talora

Journal:

 

Mutation of the Golgi Ca(2+)-ATPase ATP2C1 is associated with deregulated calcium homeostasis and altered skin function. ATP2C1 mutations have been identified as having a causative role in Hailey-Hailey disease, an autosomal-dominant skin disorder. Here, we identified ATP2C1 as a ...

Last Updated: 31 Dec 1969

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A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?
 

Author(s): Nina van Beek, Aikaterini Patsatsi, Yask Gupta, Steffen Möller, Miriam Freitag, Susanne Lemcke, Andreas Recke, Detlef Zillikens, Enno Schmidt, Saleh Ibrahim

Journal:

 

The autosomal dominant Hailey Hailey disease (HHD) is caused by mutations in the ATP2C1 gene encoding for human secretory pathway Ca2+/Mn2+ ATPase protein (hSPCA1) in the Golgi apparatus. Clinically, HHD presents with erosions and hyperkeratosis predominantly in the intertrigines. ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hailey Hailey Disease" returned 6 free, full-text review articles on human participants. First 3 results:

Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population.
 

Author(s): Kejia Xu, Bingjun Shi, Qingchun Diao, Xue Jiang, Yujuan Xiao

Journal:

 

BACKGROUND Hailey-Hailey disease (HHD) is a rare autosomal dominant skin condition. The ATP2C1 gene was identified as the defective gene in HHD. To date, 166 pathogenic mutations in ATP2C1 have been observed worldwide. The aim of this study was to identify variations in HHD and summarize ...

Last Updated: 31 Dec 1969

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ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.
 

Author(s): M Micaroni, G Giacchetti, R Plebani, G G Xiao, L Federici

Journal:

 

ATP2C1 gene codes for the secretory pathway Ca(2+)/Mn(2+)-ATPase pump type 1 (SPCA1) localizing at the golgi apparatus. Mutations on the human ATP2C1 gene, causing decreased levels of the SPCA1 expression, have been identified as the cause of the Hailey-Hailey disease, a rare skin ...

Last Updated: 31 Dec 1969

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Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population.
 

Author(s): L Meng, Y Gu, X F Du, M H Shao, L L Zhang, G L Zhang, X L Wang

Journal:

 

Hailey-Hailey disease (HHD) is an autosomal dominant disorder in which the ATP2C1 gene has been implicated. Many mutations of this gene have been detected in HHD patients. To analyze such mutations in HHD and summarize all those identified in Chinese patients with this disease, we ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.