פמפיגוס משפחתי שפיר

Synonyms: familial benign chronic pemphigus, Hailey-Hailey disease

What is familial benign pemphigus?

Familial benign pemphigus is a rare inherited autosomal dominant skin disorder, caused by a genetic mutation in the ATP2C1 gene located on chromosome 3.¹ Occasionally sporadic cases do occur. There is a defect in keratinocyte cohesion, first described in 1939 by dermatologist brothers Hailey and Hailey.²

Symptoms of familial benign pemphigus (presentation)^{3 4 5}

It may start in the teenage years but it most commonly presents in the third and fourth decades. Vesicular or bullous rashes and erosions develop first in skin folds (axilla, groin, genitalia and under the breasts).³ The lesions heal without scarring.

If the lesions persist they may become thickened, with maceration, itching and painful cracks. This can lead to secondary bacterial or candidal infection and malodour.

The trunk and neck can also be affected, with lesions provoked by friction, sun exposure, heat, and trauma.¹

Fingernails may show white, longitudinal bands. Pits may occur on the palms.

אבחנה מבדלת

• Rash may be mistaken for pemphigus vulgaris, אימפטיגו or fungal infection.

• Perineal lesions may mimic genital warts.⁶

Diagnosing familial benign pemphigus (investigations)

ביופסיית עור may be required, although appearance and family history is usually enough. The histology is characteristic.³

Treatment and management of familial benign pemphigus^{3 4 5}

תומך:

• Avoid trigger factors - sunburn, friction and sweating; wear soft and absorbent clothing; avoid obesity.

Topical treatments:

• קורטיקוסטרואידים מקומיים ± antibacterials/antifungals.

• Benzoyl peroxide cream (as antibacterial).

• Wet compresses to dry up oozing patches (eg, aluminium acetate 1:40 dilution).

• Calcipotriol קרם.

• Tacrolimus משחה.

• Other topical treatments (from recent case reports) are topical cadexomer iodine powder⁷ ו 5-fluorouracil.⁸

• Bleach baths (2ml of household bleach for every 1L of water) can be used.⁹

Systemic treatments:

• Prolonged courses of oral antibiotics (eg, tetracycline or erythromycin) may help.

• Immunosuppressants have been used, eg, retinoids, ציקלוספורין, dapsone, מתוטרקסט, systemic steroids and alefacept. However, no clinical trials have been performed.

Other treatments:

• Phototherapy.

• Low-dose botulinum toxin - to reduce sweating.

• Carbon dioxide laser ablation¹⁰ - although problems with hypertrophic scars have been reported.

• טיפול פוטודינמי ± other treatments - with varying success.^{11 12}

• In severe cases, affected areas can be removed surgically, but skin grafts may be required to close the skin deficit and scarring may be a problem.

• רדיותרפיה has been reported as successful in local disease control, although it does not seem to influence the natural course of the disease.

Complications of familial benign pemphigus

• Eczema herpeticum (disseminated herpes simplex infection of pre-existing skin disease) is a rare complication, requiring systemic antiviral treatment.¹³

• A single case report describes קרצינומה של תאי קשקש developing in a vulval lesion after tacrolimus treatment.¹⁴

תחזית³

• For most patients the condition is a 'nuisance' rather than a serious problem.

• May have long remissions.

• May improve with age.