Abnormal intracellular ca(2+)homeostasis and disease.

Cell Calcium. 2000 Jul;28(1):1-21. Missiaen L, Robberecht W, van den Bosch L, Callewaert G, Parys JB, Wuytack F, Raeymaekers L, Nilius B, Eggermont J, De Smedt H. Source Laboratory of Physiology, K.U.Leuven Campus Gasthuisberg O/N, Leuven, Belgium. Ludwig.Missiaen@med.kuleven.ac.be Abstract A whole range of cell functions are regulated by the free … Read More

Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.

Hum Mol Genet. 2000 Apr 12;9(7):1131-40. Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larrègue M, Perrussel M, Lehrach H, Munro CS, Strachan T,Burge S, Hovnanian A, Monaco AP. Source Max-Planck-Institut für Molekulare Genetik, D-14195 Berlin, Germany. Abstract Hailey-Hailey disease (HHD) is an autosomal dominant skin disorder … Read More

Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.

Nat Genet. 2000 Jan;24(1):61-5. Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr. Source Department of Dermatology, San Francisco General Hospital, University of California at San Francisco, San Francisco, California, USA. Abstract Hailey-Hailey disease (HHD, MIM 16960) is inherited … Read More

Internalization of gap junctions in benign familial pemphigus (Hailey-Hailey disease) and keratosis follicularis (Darier’s disease).

Br J Dermatol. 1999 Aug;141(2):224-30. Haftek M, Kowalewski C, Mesnil M, Blaszczyk M, Schmitt D. Source INSERM U.346/CNRS ‘Human Skin and Immunity’, Hôpital E.Herriot, 69437 Lyon cedex 03, France. marek.haftek@lyon151.inserm.fr Abstract Hereditary skin disorders involving acantholysis, such as Hailey-Hailey disease and Darier’s disease, have been … Read More

The Calcium Pump…

Completing the jigsaw puzzle: an important piece is in place.  (Aug 2000) What causes Hailey-Hailey disease? The condition is caused by a change (mutation) in a gene on chromosome 3. Now researchers in the UK and USA have discovered that … Read More

What is HHD? A good description in lay terms.

Hailey-Hailey disease (HHD) is a rare autosomal dominant genodermatosis characterized by disturbed keratinocyte adhesion. OK, in English, sufferers of HHD have a problem with ‘keratinocyte adhesion.’ Keratinocytes are the cells that make up the skin and in HHD patients one of the thousands of genes … Read More

Support Group: TalkHHD @ groups.io

If you or a loved one have HHD, we welcome you to join our Email Support Group. TalkHHD began in 2003 after the haileyhaileydisease.com email listserve was disbanded. The group moved to Yahoo, then groups.io and this website and is … Read More

HHD Forums

  Notice: The HHD Forums have been discontinued due to spam. Please join our support group TalkHHD on groups.io.  If you do not want to sign up for a Yahoo Group account, you may still receive/send messages to the TalkHHD … Read More