Benign familial pemphigus, known as Hailey–Hailey disease, is an autoimmune uncommon hereditary blistering skin condition. This condition is unrelated to pemphigus vulgaris and has a different outcome. Although it can happen at any age, benign familial pemphigus often manifests in the second to fourth decade. After that, it usually lasts a lifetime. All races are equally affected.

Etiology:

Although isolated occurrences of benign familial pemphigus without a family history can occasionally occur, the condition is hereditary usually. The ATP2C1 gene, which is located on chromosome 3q21–24, has now been confirmed to be defective. The calcium and manganese pump protein SPCA1 (Secretory Pathway Calcium/manganese-ATPase) is encoded by this gene. Desmosomes, which hold the keratinocytes together, appear to assemble improperly in the absence of enough calcium. The skin cells in benign familial pemphigus unstick from one another due to the genetic abnormality.

Clinical features:

In the skin folds, the disease often starts as a symmetrical, painful, erosive, and crusty skin rash. The armpits, groins, neck, under the breasts, and in between the buttocks are typical locations. The lesions usually fade away without leaving any scars. As the lesions get bigger, the center clears leaving a typical ring shape. If the lesions persist for a while, they could thicken. After that, the skin tends to macerate, producing painful cracks. These symptoms are exacerbated by heat, sweating, and friction.

Diagnosis:

Benign familial pemphigus is often diagnosed based on appearance and family history, however, it is frequently confused with other skin conditions. Other blistering disorders, tinea cruris, thrush, and impetigo appear similarly. A skin biopsy may be needed for diagnosis. The histology is typical, with layers of detachment from the skin cells (acantholysis) lining up like a row of tombstones. The immunofluorescence test for antibodies comes out negative, in contrast to pemphigus vulgaris. Family members cannot yet access any diagnostic tests.

Management:

There is no definitive cure for this disease. Treatment is aimed at reducing symptoms and preventing flares. It is divided into topical and oral medication, in addition to general advice and other treatments.

General advice includes avoiding triggers, washing, and drying skin folds carefully, and soft and loose clothing. Topical prescriptions include corticosteroids, antibiotics, benzoyl peroxide, ketoconazole, calcipotriol cream, and topical calcineurin inhibitors. Oral prescriptions include antibiotics, antivirals if herpes virus infection is a recurrent issue, and anticholinergic medications to reduce hyperhidrosis. In extreme circumstances, carbon dioxide laser vaporization or dermabrasion produces healing scars that are resistant to recurrence.

Complications:

Secondary bacterial infection produces an unpleasant scent, also herpes simplex can cause blisters to form, and it has the potential to develop into a very painful viral illness (eczema herpeticum).

Prognosis:

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

Written by:

Mohammed Alahmadi, medical student.

Revised by:

Maee Barakeh, medical student.

References:

DermNet

Fitzpatrick’s Color Atlas and Synopsis of Clinical Dermatology

Review of Dermatology by Ali Alikhan