Segmental Hailey-Hailey disease

Syn.: Segmental Hailey-Hailey disease, relapsing linear acantholytic dermatosis.

Def .: Epidermal nevus clinically and histopathologically corresponding to changes in Hailey-Hailey disease.

Epid .: It is rare.

Etiol .: A mosaic variety caused by a somatic mutation during embryogenesis.

Pat: The mutation concerns the ATP2C1 gene, which encodes calcium ion-dependent ATPase (sarcoplasmic / endoplasmic reticulum Ca2 + ATP-ase 2 – SERCA 2), an enzyme responsible for the formation of intercellular connections and cell adhesion.

Loc .: One-sided, along the nerve segments.

Clinical: Vesiculo-erosive foci may be accompanied by slightly intensified lesions with a symmetrical arrangement in the areas typical for Hailey-Hailey disease (neck, armpits, groin).

Hist .: Increased acantholysis beginning above the basal layer and covering the entire epidermis.

DR: Shingles, a mosaic form of the following diseases: Darier’s disease, Brocq epidermolytic hyperkeratosis, type I neurofibomatosis, multiple syringomas, diseminated superficial actinic porokeratosis.

Healing: Steroid ointments, tacrolimus ointment, surgical removal of treatment-resistant lesions.

Year .: Recurring mileage.

Lit.: [1] Bittar M., Happle R.: ‘Atypical’ cases of haileyhailey disease may represent typical examples of a type 2 segmental manifestation. Dermatology 2005, 210; 182-3. [2] Ohtsuka T., Okita H., Hama N., Yamazaki S.: Novel mutation in ATP2C1 gene in a Japanese patient with Hailey- Hailey disease. Dermatology 2006, 212; 194-7.

Source: A. Kaszuba, Z. Adamski: “Lexicon of dermatology”; XNUMXst edition, Czelej Publishing House

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