Hailey- Hailey Disease.com
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Hailey- Hailey Disease.com
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Chronic Benign Familial PemphigusHailey-Hailey DiseaseHailey-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 controlling this cell doesn't work properly. The result is that the keratinocytes do not stick to each other as well as they should and the skin is therefore weaker. 'a rare autosomal dominant' All this means is that the gene that causes HHD is on one of the 22 pairs of human chromosomes (called autosomes) that are not the sex (X and Y) chromosomes. 'rare' refers to the frequency of the HHD gene in the human population - it is uncommon, perhaps 1 in 1,000,000. The 'dominant' bit is about the fact that humans have two copies of each gene (one from the mother and one from the father). This means that every gene has a back up gene on the other chromosome and that these two copies of a gene interact to decide how they will be expressed in the person. If one of the genes is so powerful that it doesn't matter if the other copy is a good copy or not - then it is said to be dominant. It is beginning to be believed, however, that in HHD, half of the protein SPCA1 (ATP2C1) is made correctly, based on the good gene and half is made incorrectly. Thus, we function OK in most cases. genodermatosis means 'an inherited skin disease' Translated: Hailey Hailey disease is an infrequently encountered inherited skin disease. The defective gene is carried on an autosomal chromosome [not on one of the sex (X and Y) chromosomes] and is dominant. Children of parents where one parent has HHD have a 50% (1 in 2) chance of inheriting the disorder. For patients with the disease the major cells of the skin (keratinocytes) do not stick to each other properly.
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