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keratotic papules in the perianal area &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; There were no similar lesions in other body regions&#44; mucous membranes&#44; or nail affectation&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">A 2-mm punch biopsy revealed hyperkeratosis&#44; hypergranulosis&#44; prominent dyskeratosis&#44; acantholysis&#44; and suprabasal clefts &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41;&#46; Correlating her family history and clinicopathological findings&#44; a diagnosis of PAD was made&#46; Topical treatment with tacrolimus 0&#46;1&#37; daily provided itching relief&#44; with clinical persistence of the papules&#46;</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">PAD of the genitocrural area is most frequent in young women&#46; Clinical findings are characterized by multiple pruritic grayish&#44; whitish&#44; or erythematous verrucous papules that can be solitary or coalesce in plaques&#46; Papules are usually located on warm moist areas such as the perineum&#44; penis&#44; scrotum&#44; vulva&#44; and perianal or inguinal folds&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;5</span></a> Most lesions are asymptomatic&#44; but some could be painful or itchy as in this case&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">Histology shows hyperkeratosis&#44; focal parakeratosis&#44; acantholytic and dyskeratotic cells in the mid and lower epidermis&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> The main histological differential diagnoses are HHD&#44; warty dyskeratoma&#44; and Darier Disease &#40;DD&#41; as they share similar histopathological features included in the spectrum of focal acantholytic dyskeratoses&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;4&#44;5</span></a> These patterns must be correlated with the patient&#8217;s clinical findings and family history in order to ascertain a PAD diagnosis&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">HHD is a rare&#44; autosomal dominant inherited genodermatosis&#44; with complete penetrance but variable expressivity&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> It is caused by mutation of the ATP2C1 gene &#40;3q21&#41; that codes for the Secretory Pathway Ca<span class="elsevierStyleSup">2&#43;</span> ATPase type 1 pump &#40;SPCA1&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> The non-functional pump gives rise to calcium dysfunction&#44; impairing the correct protein synthesis necessary for desmosome formation&#44; resulting in a keratinocyte adhesion defect&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> It is suggested that PAD could be a result of a segmental mosaic mutation of ATP2C1 gene&#44; being a localized atypical variant of HHD&#46;<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3&#8211;5</span></a> Most cases appear to be sporadic&#44; and there are very few reported PAD cases with HHD family history&#46; This disease remains to be fully elucidated and there&#8217;s still uncertainty about if it corresponds to an individual entity&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">There are various treatment options for PAD including tetracyclines&#44; cryotherapy&#44; systemic and topical retinoids&#44; topical tacrolimus and steroids&#44; CO<span class="elsevierStyleInf">2</span> laser ablation&#44; or surgical removal&#46;<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3&#44;5</span></a> It&#8217;s important to consider that the lesions tend to persist for years or can recur after treatment&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Genital dermatoses are frequently focused on as sexually transmitted diseases&#44; especially in young sexually active individuals&#46; PAD diagnosis is challenging&#44; and lesions may be sometimes difficult to distinguish from anogenital warts&#46; This case highlights the importance of knowing about this disease&#44; reducing misdiagnosis&#44; and avoiding unnecessary interventions that could affect the patient&#8217;s quality of life&#46;</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Financial support</span><p id="par0050" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Authors&#8217; contributions</span><p id="par0055" class="elsevierStylePara elsevierViewall">Laura Trujillo Ramirez&#58; Drafting and editing of the manuscript&#59; conception and planning of the study&#59; intellectual participation in the propaedeutic and&#47;or therapeutic conduct of the studied cases&#59; participation in study design&#59; critical review of the literature&#59; critical review of the manuscript&#46;</p><p id="par0060" class="elsevierStylePara elsevierViewall">Camilo Andres Morales Cardona&#58; Drafting and editing of the manuscript&#59; conception and planning of the study&#59; intellectual participation in the propaedeutic and&#47;or therapeutic conduct of the studied cases&#59; participation in study design&#59; critical review of the literature&#59; critical review of the manuscript&#46;</p><p id="par0065" class="elsevierStylePara elsevierViewall">Juan Carlos Hiromi Lopez Takegami&#58; Drafting and editing of the manuscript&#59; conception and planning of the study&#59; intellectual participation in the propaedeutic and&#47;or therapeutic conduct of the studied cases&#59; participation in study design&#59; critical review of the literature&#59; critical review of the manuscript&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflicts of interest</span><p id="par0070" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span></span>"
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Case Letter
Papular acantholytic dyskeratosis of the perianal region in a young woman
Laura Trujillo Ramireza,b,
Corresponding author
lauratramirez89@gmail.com

Corresponding author.
, Camilo Andres Morales Cardonaa,b, Juan Carlos Hiromi Lopez Takegamia,b
a Fundacion Universitaria Sanitas (Unisanitas), Bogotá, Colombia
b E.S.E. Hospital Universitario Centro Dermatologico Federico Lleras Acosta, Bogotá, Colombia
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Papular Acantholytic Dyskeratosis &#40;PAD&#41; is an uncommon&#44; chronic and recurrent dermatosis of unknown etiology&#44; considered a possible variant of Hailey-Hailey Disease &#40;HHD&#41;&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#8211;4</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">We present a 25-year-old woman with an 18-month history of intense itch associated with perianal papules&#59; previously diagnosed with condylomas treated with emollients&#44; imiquimod 5&#37; cream&#44; and trichloroacetic acid without improvement&#46; She denied a history of venereal disease or sexual risk behaviors and also reported that her father&#44; paternal grandmother&#44; and uncles&#44; had been diagnosed with HHD &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">Physical examination showed multiple grayish-white&#44; keratotic papules in the perianal area &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46; There were no similar lesions in other body regions&#44; mucous membranes&#44; or nail affectation&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">A 2-mm punch biopsy revealed hyperkeratosis&#44; hypergranulosis&#44; prominent dyskeratosis&#44; acantholysis&#44; and suprabasal clefts &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41;&#46; Correlating her family history and clinicopathological findings&#44; a diagnosis of PAD was made&#46; Topical treatment with tacrolimus 0&#46;1&#37; daily provided itching relief&#44; with clinical persistence of the papules&#46;</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">PAD of the genitocrural area is most frequent in young women&#46; Clinical findings are characterized by multiple pruritic grayish&#44; whitish&#44; or erythematous verrucous papules that can be solitary or coalesce in plaques&#46; Papules are usually located on warm moist areas such as the perineum&#44; penis&#44; scrotum&#44; vulva&#44; and perianal or inguinal folds&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;5</span></a> Most lesions are asymptomatic&#44; but some could be painful or itchy as in this case&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">Histology shows hyperkeratosis&#44; focal parakeratosis&#44; acantholytic and dyskeratotic cells in the mid and lower epidermis&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> The main histological differential diagnoses are HHD&#44; warty dyskeratoma&#44; and Darier Disease &#40;DD&#41; as they share similar histopathological features included in the spectrum of focal acantholytic dyskeratoses&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;4&#44;5</span></a> These patterns must be correlated with the patient&#8217;s clinical findings and family history in order to ascertain a PAD diagnosis&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">HHD is a rare&#44; autosomal dominant inherited genodermatosis&#44; with complete penetrance but variable expressivity&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> It is caused by mutation of the ATP2C1 gene &#40;3q21&#41; that codes for the Secretory Pathway Ca<span class="elsevierStyleSup">2&#43;</span> ATPase type 1 pump &#40;SPCA1&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> The non-functional pump gives rise to calcium dysfunction&#44; impairing the correct protein synthesis necessary for desmosome formation&#44; resulting in a keratinocyte adhesion defect&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> It is suggested that PAD could be a result of a segmental mosaic mutation of ATP2C1 gene&#44; being a localized atypical variant of HHD&#46;<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3&#8211;5</span></a> Most cases appear to be sporadic&#44; and there are very few reported PAD cases with HHD family history&#46; This disease remains to be fully elucidated and there&#8217;s still uncertainty about if it corresponds to an individual entity&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">There are various treatment options for PAD including tetracyclines&#44; cryotherapy&#44; systemic and topical retinoids&#44; topical tacrolimus and steroids&#44; CO<span class="elsevierStyleInf">2</span> laser ablation&#44; or surgical removal&#46;<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3&#44;5</span></a> It&#8217;s important to consider that the lesions tend to persist for years or can recur after treatment&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Genital dermatoses are frequently focused on as sexually transmitted diseases&#44; especially in young sexually active individuals&#46; PAD diagnosis is challenging&#44; and lesions may be sometimes difficult to distinguish from anogenital warts&#46; This case highlights the importance of knowing about this disease&#44; reducing misdiagnosis&#44; and avoiding unnecessary interventions that could affect the patient&#8217;s quality of life&#46;</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Financial support</span><p id="par0050" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Authors&#8217; contributions</span><p id="par0055" class="elsevierStylePara elsevierViewall">Laura Trujillo Ramirez&#58; Drafting and editing of the manuscript&#59; conception and planning of the study&#59; intellectual participation in the propaedeutic and&#47;or therapeutic conduct of the studied cases&#59; participation in study design&#59; critical review of the literature&#59; critical review of the manuscript&#46;</p><p id="par0060" class="elsevierStylePara elsevierViewall">Camilo Andres Morales Cardona&#58; Drafting and editing of the manuscript&#59; conception and planning of the study&#59; intellectual participation in the propaedeutic and&#47;or therapeutic conduct of the studied cases&#59; participation in study design&#59; critical review of the literature&#59; critical review of the manuscript&#46;</p><p id="par0065" class="elsevierStylePara elsevierViewall">Juan Carlos Hiromi Lopez Takegami&#58; Drafting and editing of the manuscript&#59; conception and planning of the study&#59; intellectual participation in the propaedeutic and&#47;or therapeutic conduct of the studied cases&#59; participation in study design&#59; critical review of the literature&#59; critical review of the manuscript&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflicts of interest</span><p id="par0070" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span></span>"
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ISSN: 03650596
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Idiomas
Anais Brasileiros de Dermatologia
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