Genitoperineal papular acantholytic dyskeratosis is allelic to Hailey-Hailey disease

Pernet, C.; Bessis, D.; Savignac, Magali; Tron, Elodie; Guillot, B.; Hovnanian, Alain

doi:10.1111/j.1365-2133.2012.10810.x

Cited by 45 publications

(43 citation statements)

References 11 publications

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“…[1] Over a period of time, several sporadic cases of papular lesions located in the anogenital region such as labia, perineum, groin, perianal area, anal canal, penis, scrotum, and lips have been described, where the lesions have been long-standing and their histology consistently shows features of acantholytic dyskeratosis with a histological diagnosis of Darier's disease or HHD. [2345678910] Some authors have labeled these cases “PAD” as well as “acantholytic dermatoses of the genitocrural/perineal region.” In the limited number of reports available, this entity seems more common in women with only few cases reported in males. [3] Many of them have been asymptomatic, except for some presenting with itching and burning, and all have been persistent.…”

Section: Discussionmentioning

confidence: 99%

“…[7] Whitish-gray papules, confluent papules, deep-seated vesicle like lesions, erosions, crusting, and macerated patches have all been described by various authors. [2345678910] Many cases have involvement of multiple locations like genitalia and upper thighs, genitalia and perianal area, anal canal and lips, and so on. [34678] Absence of involvement of areas like axillary folds, inframammary folds, neck, and seborrheic areas help rule out HHD and Darier's disease.…”

Section: Discussionmentioning

confidence: 99%

“…ATP2C1 mutations have been demonstrated by workers, and it has been suggested that PAD may be a variant of HHD. [89] Pernet et al .,[9] described two patients with vulvar and perianal dyskeratotic acantholytic dermatosis with ATP2C1 mutations. Therefore, they have suggested that this mutation may lead to a distinct phenotype, which is variably described as “PAD of the vulva” or “PAD of the vulvocrural and/or the anogenital area.” They also suggested that these different clinical entities should be considered as being allelic to HHD.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, they have suggested that this mutation may lead to a distinct phenotype, which is variably described as “PAD of the vulva” or “PAD of the vulvocrural and/or the anogenital area.” They also suggested that these different clinical entities should be considered as being allelic to HHD. [9]…”

Section: Discussionmentioning

confidence: 99%

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Papular acantholytic dyskeratosis localized to the perineal and perianal area in a young male

Verma¹

2013

Indian J Dermatol

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A case of Papular acantholytic dermatosis restricted to the perianal area is being reported in a 26 year old male without involvement of the genitalia, groin and upper thighs for the first time in English literature. The patient presented with long standing grayish white confluent papules with eroded areas in the perianal region which were asymptomatic for a long time before the area got macerated. He did not respond to many weeks of topical steroids but is now showing improvement with topical tacrolimus ointment 0.1% applied twice daily. This entity appears to be very uncommon and also underreported. It is also suggested that this entity be included in the long list of non venereal anogenital lesions as it may mimic perianal warts or molluscum contagiosum.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Papular acantholytic dyskeratosis localized to the perineal and perianal area in a young male

Verma¹

2013

Indian J Dermatol

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“…Bu hastalığın ilk tanımlanışından bugüne kadar literatürde penis ve inguinal bölgeden tanı alan PAD olguları vardır (7,8). PAD, histopatolojik olarak Hailey-Hailey ve Darier hastalığına benzemesine rağmen asemptomatik ve sporadik oluşu ve genitokrural bölgenin dışına ilerlememesi ile bu hastalıklardan ayrılmaktadır (3).…”

Section: Vulvanın Papüler Akantolitik Diskeratozisiunclassified

Papular acantholytic dyskeratosis of vulva

Yilmaz¹,

Ersöz²

2018

JCurrPath

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ÖZETAmaç: Papüler akantolitik diskeratozis nadir görülen kronik bir deri hastalığı ve klinikopatolojik bir antitedir. Genelde anogenital ve genitokrural bölgede cilt renginde veya beyazımsı papüller şeklinde kendini gösterir. Genç kadınlarda vulvada persistan papüler lezyon olarak klinik bulgu verir. Persistan olmasına rağmen asemptomatiktir.Olgu: 62 yaşında kadın hastada sağ labium majus lateralinde yaklaşık 0,3 cm çaplı büllöz karakterde tek bir lezyon izlendi. Histopatolojik incelemede hiperkeratoz ve akantoz yanı sıra akantoliz ve 'corps rond' ve 'grain' tipinde diskeratotik hücreler tespit edildi. Histopatolojik ve klinik bulgular eşliğinde olguya papüler akantolitik diskeratozis tanısı verildi.Sonuç: Ayırıcı tanıda Hailey-Hailey ve Darier hastalığı başta olmak üzere verrüköz diskeratom ve Grover hastalığı yer almaktadır. Lezyonun klinik olarak özellikleri, lokalize veya yaygın oluşu, aile öyküsü ve genetik mutasyonlar ayırıcı tanıda önemlidir.Anahtar Sözcükler: Diskeratozis, Anogenital, Genitokrural, Papüler akantolitik diskeratozis ABSTRACT Aim: Papular acantholytic dyskeratosis is a rare, chronic skin disorder and clinicopathological entity. It usually manifests with skin-colored or whitish papules on the anogenital and genitocrural area. Clinically, this disease presents as a persistent papular lesion on the vulva of young women. Despite being persistent, it is asymptomatic. Case:A 62-year-old female patient was found to have a 0,3 cm single, bullous lesion over the right labium majus. Histopathological examination revealed hyperkeratosis and acanthosis as well as acantholysis and dyskeratotic cells forming corps rond and grains. Papular acantholytic dyskeratosis was diagnosed with histopathological and clinical findings. Conclusion:Differential diagnosis includes mainly Hailey-Hailey and Darier's diseases as well as verrucous dyskeratoma and Grover's disease. Clinical features of the lesion, presents in a localized or generalized form, family history and genetic mutations are important in differential diagnosis.

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Inherited Acantholytic Disorders

Zamiri

Munro

2016

Rook's Textbook of Dermatology, Ninth Edition

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Darier disease (DD) and Hailey–Hailey disease (HHD) are autosomal dominant disorders characterized by epidermal acantholysis. They have a similar molecular pathogenesis, with mutations in the intracellular calcium pumps of the endoplasmic reticulum (SERCA2) and Golgi (SPCA1), respectively. DD presents with persistent, hyperkeratotic papules in a seborrhoeic distribution, associated with nail changes and palmar pitting. HHD presents with painful, mainly flexural, erosions. In both, secondary infection is common and hypertrophic flexural disease can be disabling. Histologically, both are characterized by loss of epidermal intercellular adhesion (acantholysis). In DD, acantholysis is predominantly suprabasal and there is overlying dyskeratosis. In HHD, acantholysis is more diffuse. First line topical treatment is with emollients, antimicrobials and corticosteroids. Oral antibiotics are often necessary for exacerbations; other systemic options include retinoids and ciclosporin. Physical measures such as laser resurfacing, photodynamic therapy, botulinum toxin and surgical interventions can be considered in refractory cases.

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Genitoperineal papular acantholytic dyskeratosis is allelic to Hailey-Hailey disease

Cited by 45 publications

References 11 publications

Papular acantholytic dyskeratosis localized to the perineal and perianal area in a young male

Papular acantholytic dyskeratosis localized to the perineal and perianal area in a young male

Papular acantholytic dyskeratosis of vulva

Inherited Acantholytic Disorders

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