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Clinical and Experimental Dermatology

White papules on the anogenital area C. Dessinioti,1 E. Soura,1 C. Kittas2 and C. Antoniou1 1 First Department of Dermatology-Venereology, University of Athens, Andreas Syggros Hospital, Athens, Greece and 2Histology Laboratory, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

doi: 10.1111/ced.12377

Clinical findings A 35-year-old woman presented with a 2-year history of multiple pruritic whitish papules located on her vulva, labia majora, perineum and perianal area

(Fig. 1). She had been treated previously with cryotherapy for a presumed diagnosis of genital warts, with initial improvement followed by recurrence. The patient had no other skin, mucosal or nail lesions, and there was no family history of skin disease. She was treated with topical pimecrolimus 1% cream, twice daily for 3 months, which resulted in clinical improvement.

Histopathological findings Histological examination of a punch biopsy taken from one of the lesions revealed acantholysis with suprabasal cleft formation, which spanned the entire thickness of the epidermis, and the presence of rounded eosinophilic dyskeratotic cells in the stratum spinosum (corps ronds) and in the upper layers of the epidermis (grains) (Fig. 2a,b). What is your diagnosis?

Figure 1 Multiple whitish papules located on the vulva, labia

majora, perineum and perianal area.

Correspondence: Dr Clio Dessinioti, Andreas Syggros Hospital, 5, Dragoumi str, 16121, Athens, Greece E-mail: [email protected] Conflict of interest: the authors declare that they have no conflicts of interest. Accepted for publication 16 February 2014

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(a)

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Figure 2 (a) Acantholysis with suprabasal cleft formation, which

spaned the entire width of the epidermis, with associated mild superficial perivascular chronic inflammation. (b) Acantholysis and presence of rounded eosinophilic dyskeratotic cells in the stratum spinosum (corps ronds) and in the upper layers of the epidermis (grains). Note the projecting papilla (villous) formation, covered by a single basal cell layer. Haematoxylin and eosin, original magnification (a) 9100; (b) 9200.

Diagnosis Papular acantholytic dyskeratosis of the anogenital area (PAD).

Discussion PAD, together with Darier disease (DD), Hailey–Hailey disease (HHD), Grover disease (GD), warty dyskeratoma of the vulva, and the acantholytic variant of squamous cell carcinoma (ASCC), belong to a heterogenous group of focal acantholytic dyskeratoses.1 PAD is rare and affects mainly young to middle-aged women.1,2 Typical lesions include multiple, confluent, asymptomatic or pruritic, skin-coloured to whitish ker-

ª 2014 British Association of Dermatologists

atotic papules or plaques, most commonly located on the anogenital area (vulva, perineum, perianal area).1 There is no related family history reported.2,3 PAD should be differentiated from genital warts, lichen planus (LP) and HHD. PAD exhibits mixed histopathological characteristics of HHD and DD,1 and typical findings are hyperkeratosis, parakeratosis and focal acantholytic dyskeratosis, with suprabasilar clefts, acantholytic (rounded) and dyskeratotic (corps ronds and grains) keratinocytes, involving the suprabasal layers of the epidermis.3 There have been 19 cases of PAD reported to date.1–5 Direct immunofluorescence (DIF) was performed in only nine cases, and was negative in all except one case, which showed intraepidermal intercellular IgG and C3 deposition.3 It is uncertain whether the positive results demonstrated in some patients with acantholytic dermatoses are the result of ‘unmasking’ of sequestered antigens, such as desmogleins, to the immune system during disintegration of desmosomes in the course of acantholysis, or whether they are indicators of a true autoimmune disorder.6 Differential diagnosis from the other focal acantholytic dyskeratoses is straightforward, and is based on clinical and histological differences. DD, an autosomal dominant inherited disorder due to mutations in the ATP2A2 gene (12q23-24), usually presents during puberty, with hyperkeratotic brown papules on the seborrheic areas of the body and nail changes.1 Histological findings are hyperkeratosis and focal dyskeratosis, as well as suprabasal acantholysis leading to suprabasal clefts.3,4 HHD is an autosomal dominant inherited disorder caused by mutations in the ATP2C1 gene (3q21-24), presenting before the third to fourth decades of life, with painful erosions and fissures in the flexures. Vulval lesions have been rarely described.3,4 Histologically, there is a marked inflammatory infiltrate, while acantholysis is more prominent than dyskeratosis (‘dilapidated brick wall’). GD affects mainly adult men, presenting as pruritic red papules or papulovesicles located on the trunk.3,4 Warty dyskeratoma and ASCC are rare, and present as solitary lesions.1 The cause of PAD has not been elucidated; recently reported mutations in the ATP2C1 gene (3q21) suggest that PAD may in fact be allelic to HHD.2 ATP2C1 encodes pumps (ATPases), mostly expressed in keratinocytes that regulate Ca2+ homeostasis, thus influencing the processing of desmosomal proteins, the desmosomal connections following injury or stress, and cell to cell adhesion. Treatments for PAD include topical treatments, including corticosteroids, retinoids, tacrolimus or

Clinical and Experimental Dermatology (2014) 39, pp766–768

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pimecrolimus, surgical excision of solitary lesions, electrocautery or ablative laser therapy, which have all shown variable results.1–5

Learning points



PAD belongs to the category of focal acantholytic dyskeratoses. • It is characterized by a hyperkeratotic and parakeratotic epidermis with intraepidermal clefts harbouring acantholytic (rounded) and dyskeratotic (corps ronds and grains) keratinocytes. • PAD is rare and presents with multiple, asymptomatic or pruritic, skin-colored to whitish keratotic papules or plaques on the anogenital area. • The diagnostic approach should include a full examination of the skin, nails and oral mucosa; a negative family history of related skin disease; skin biopsy for histology; and swabs for secondary infection. • PAD should be differentiated from genital warts, LP and HHD, based on histology. • DIF is not routinely used to diagnose PAD, but may be indicated to rule out pemphigus in cases of clinical or histological uncertainty. gene (3q21), • Reported mutations in the ATP2C1 encoding pumps that regulate Ca2+ homeostasis, suggest that PAD may in fact be allelic to HHD.

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References 1 Krishnan RS, Ledbetter LS, Reed JA, Hsu S. Acantholytic dermatosis of the vulvocrural area. Cutis 2001; 67: 217–19, 220. 2 Pernet C, Bessis D, Savignac M et al. Genitoperineal popular acantholytic dyskeratosis is allelic to Hailey-Hailey disease. Br J Dermatol 2012; 167: 210–12. 3 G€ unesß AT, Ilknur T, Pabucßcßuo glu U et al. Papular acantholytic dyskeratosis of the anogenital area with positive direct immunofluorescence results. Clin Exp Dermatol 2007; 32: 301–3. 4 Bell HK, Farrar CW, Curley RK. Papular acantholytic dyskeratosis of the vulva. Clin Exp Dermatol 2001; 26: 386–8. 5 Cooper PH. Acantholytic dermatosis localized to the vulvocrural area. J Cutan Pathol 1989; 16: 81–4. 6 Phillips C, Kalantari-Dehaghi M, Marchenko S et al. Is Grover’s disease an autoimmune dermatosis? Exp Dermatol 2013; 22: 781–4.

ª 2014 British Association of Dermatologists

White papules on the anogenital area.

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