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Hailey-Hailey disease

Author: Dr Steven Lamb, Dermatology Registrar, Waikato Hospital, Hamilton, New Zealand, 2001.

What is Hailey-Hailey disease?

Hailey-Hailey disease is a rare hereditary blistering skin disease first described by the Hailey brothers in 1939. It is sometimes called ‘familial benign chronic pemphigus’.

What are the clinical features of Hailey-Hailey disease?

Hailey-Hailey disease usually appears in the third or fourth decade, although it can occur at any age. It typically begins as a painful erosive skin rash in the skin folds. Common sites include the armpits, groins, and neck, under the breasts and between the buttocks. The lesions tend to come and go and leave no scars. As the lesions get bigger the centre clears leaving a typical ring shape. If the lesions are present for some time they may become thickened. The skin then tends to macerate leaving quite painful cracks. Secondary bacterial infection, which is not uncommon, can give rise to an unpleasant smell. White bands on the fingernails and pits in the palms can also occur.

Heat, sweating and friction often exacerbates the disease, and most patients have worse symptoms during the summer months.

What is the cause of Hailey-Hailey disease?

Hailey-Hailey disease is a inherited skin disorder, although occasionally sporadic cases arise without a family history. The defect responsible has now been identified on a gene called ATP2C1 found on chromosome 3q21-24. This gene codes for the protein SPCA1 (Secretory Pathway Calcium/manganese-ATPase), a calcium and manganese pump. The skin cells (keratinocytes) stick together via structures called desmosomes and it seems the desmosomes do not assemble properly if there is insufficient calcium.

The genetic defect in Hailey-Hailey disease causes the skin cells to become unstuck from one another. Normally the cells are packed together tightly in much the same way as bricks and mortar. Patients with Hailey-Hailey disease have defective ´mortar´ and the cells fall apart, like a dilapidated brick wall.

As yet there is no diagnostic test available to family members.

How is Hailey-Hailey disease diagnosed?

Usually Hailey-Hailey disease is diagnosed by its appearance and the family history, but it is often is mistaken for other skin problems. Impetigo, thrush, tinea (jock itch) and other blistering conditions look similar.

Diagnosis may require a skin biopsy. The histology is characteristic, with layers of detached skin cells (‘acantholysis’). Unlike pemphigus vulgaris, the immunofluorescence test for antibodies is negative.

How is Hailey-Hailey disease treated?

Unfortunately there is no cure for Hailey-Hailey disease. Treatment is aimed at reducing symptoms and preventing flares.

New hope for the treatment of Hailey-Hailey disease

In 2014, researchers in Italy reported that afamelanotide implants had cleared Hailey-Hailey disease in 2 patients.[1] The results of a formal clinical trial in a further 10 patients with the disease have not yet been reported.

Are there any complications in Hailey-Hailey disease?

For many patients Hailey-Hailey disease is a mild condition, but for others the pain and smell can be serious problems. If the lesions get infected with herpes virus a sudden severe flare can occur, which often needs prompt treatment (see above).

Will Hailey-Hailey disease improve in time?

Many patients have long remissions and an improvement with age does occur.

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