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Hailey-Hailey disease (HHD; familial benign chronic pemphigus)
ATP2C1 (calcium-transporting ATPase, Type 2C, Member 1)
Hailey-Hailey Disease is a rare inherited skin disorder caused by disturbed cell adhesion (acantholysis) in the upper layers of the epidermis. Hailey-Hailey disease usually develops in adolescence with peak onset between the second and fourth decade. Skin lesions begin with small blisters that rapidly evolve into crusted erosions and scaling, fissured plaques. Primarily affected are the large skin folds and intertriginous areas, such as armpits, neck, under the breasts, and groin. The skin problems are exacerbated by trauma and irritation, especially heat, sweating, and friction. The disorder follows a chronic, recurrent course, often leading to discomfort, pain, and limitation of physical activity. About 60% of patients with Hailey-Hailey disease have an autosomal dominant mutation in the ATP2C1 gene on chromosome 3q21-q24, which reduces the activity of the encoded intracellular calcium/manganese pump and leads to disturbed calcium homeostasis in the epidermis (haploinsufficiency).
At GeneDx, mutations in the ATP2C1 gene are identified by complete sequence analysis of the entire coding region and adjacent splice sites of the gene (27 exons). Analysis is performed from a peripheral blood sample in EDTA or buccal (cheek) swabs. Mutation-specific testing of relatives and prenatal diagnosis in at-risk pregnancies is available once the mutation in a family has been defined.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Pemphigus, HHD, Hailey-Hailey disease, Hailey Hailey disease, acantholysis, blister, bullae, crusts, erosions, skin, epidermis, infection, calcium pump, calcium ATPase, ATP2C1, hSPCA, haploinsufficiency
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