A biopsy from flexural erosions of the neck shows suprabasal clefting with complete acantholysis of the spinous layer producing the appearance of a 'dilapidated brick wall', with dyskeratotic corps ronds being sparse. Direct immunofluorescence is negative. Which statement about this disease is correct?

• A It shows positive intercellular IgG on DIF indistinguishable from pemphigus vulgaris
• B It results from mutations in ATP2A2 encoding the sarco/endoplasmic reticulum calcium ATPase
• C It is caused by anti-type VII collagen antibodies
• D It results from mutations in ATP2C1 encoding a Golgi calcium pump ✓

Explanation

Hailey-Hailey disease (familial benign chronic pemphigus) is an autosomal dominant disorder due to ATP2C1 mutations affecting the Golgi calcium pump, impairing desmosome assembly and producing widespread acantholysis described as a dilapidated brick wall. Darier disease involves the related gene ATP2D2 (SERCA2). Because it is genetic rather than autoimmune, DIF is negative, which separates it from pemphigus vulgaris.

Reference: Rook's Textbook of Dermatology, 9th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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