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The child was born with a cleft lip and palate which was surgically corrected&#46; There was no family history of relevance related to this dermatosis&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Physical examination showed two plantar pits and a rounded reddish plaque with warty areas in the central region of the forehead &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; Dermoscopy revealed a reddish scaly lesion suggesting increased keratinization&#44; mainly at the perifollicular level&#44; without a distinctive melanocytic or vascular pattern &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0035" class="elsevierStylePara elsevierViewall">Based on the diagnostic suspicion of nevus sebaceous of Jadassohn or linear verrucous epidermal nevus&#44; a biopsy was performed&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Histological examination with hematoxylin and eosin staining showed in the dermis a basaloid proliferation of basaloid cells with anastomosing cords developed from a hair follicle or lobulated nests with occasional formation of horn cysts arranged among the pilosebaceous units and fibrous stroma&#46; Predominantly mononuclear dense inflammatory infiltrates were seen &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41;&#46; The cells of the lobulated nests were separated by Alcian-blue-positive intercellular material possibly corresponding to mucin deposits &#40;<a class="elsevierStyleCrossRef" href="#fig0020">Fig&#46; 4</a>&#41;&#46; Special stains Bcl-2 demonstrated weak cytoplasmic positivity in the outermost tumor cells only &#40;<a class="elsevierStyleCrossRef" href="#fig0025">Fig&#46; 5</a>&#41; and CD-34 was positive in stromal cells next to tumor cells &#40;<a class="elsevierStyleCrossRef" href="#fig0030">Fig&#46; 6</a>&#41;&#46;</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><elsevierMultimedia ident="fig0020"></elsevierMultimedia><elsevierMultimedia ident="fig0025"></elsevierMultimedia><elsevierMultimedia ident="fig0030"></elsevierMultimedia><p id="par0045" class="elsevierStylePara elsevierViewall">The lesion was surgically removed&#46; Abdominal ultrasound&#44; 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nodules&#44; or plaques on the face&#44; scalp&#44; and occasionally&#44; the trunk&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;4</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">Five different forms have been described&#58; 1- solitary or multiple papules&#44; 2- localized linear or unilateral plaque&#44; that may be distributed along the Blaschko lines&#44; 3- a localized plaque with alopecia&#44; 4- generalized dominantly inherited familial type without the associated disorder&#44; or 5- generalized papules associated with diffuse alopecia and myasthenia gravis&#44; systemic lupus erythematosus&#44; or cystic fibrosis&#46;<a class="elsevierStyleCrossRefs" href="#bib0025"><span class="elsevierStyleSup">5&#8211;7</span></a></p><p id="par0070" class="elsevierStylePara elsevierViewall">BFH may present alone or in association with other hereditary skin diseases&#44; such as Bazex-Dupre-Christol syndrome&#44; Brown-Crounse syndrome&#44; and Happle-Tinschert syndrome&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;7</span></a></p><p id="par0075" class="elsevierStylePara elsevierViewall">Despite variable clinical manifestations&#44; all types of BFH present with the same histopathological features&#44; mainly including multifocal islands and branching cords of basaloid epithelial cells in the papillary dermis&#44; some of which are connected to the epidermis and dilated hair follicles&#46; The formation of keratin cysts is common within the branching cords or lace-like networks of basaloid cells&#46; Neither cellular atypia nor mitotic figures are seen in BFH&#46; Immunohistochemistry is positive for CD-34 in the stroma and for Bcl-2 in the periphery of the trabeculae&#46; The Ki67 index is low&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;6&#8211;8</span></a></p><p id="par0080" class="elsevierStylePara elsevierViewall">The primary entity to consider in the differential diagnosis&#8217;s basal cell carcinoma &#40;BCC&#41;&#44; mainly the infundibulocystic subtype&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;4&#44;7</span></a> Clinically&#44; other differential diagnoses of localized form are&#58; adnexal tumors&#44; nevi&#44; trichoepithelioma&#44; syringocystoadenoma&#44; intradermal melanocytic nevus&#44; seborrheic keratosis&#44; sebaceous nevus&#44; syringoma&#44; angiofibroma&#46; BFH is a linear distribution may mimic linear epidermal nevus&#44; striated lichen&#44; and linear morphea&#46; Generalized BFH may represent generalized follicular hamartoma syndrome&#44; tuberous sclerosis&#44; Cowden syndrome&#44; multiple trichoepitheliomas&#44; Gorlin-Goltz syndrome&#44; and Rombo syndrome&#46; The main histologic differential diagnosis includes infundibulocystic BCC&#44; folliculocentric basaloid proliferation&#44; and trichoepithelioma&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;6&#44;7&#44;9</span></a></p><p id="par0085" class="elsevierStylePara elsevierViewall">BFH should be closely monitored as they may evolve into BCC&#46;</p><p id="par0090" class="elsevierStylePara elsevierViewall">Different treatments&#44; such as surgery&#44; carbon dioxide laser&#44; and photodynamic therapy have been proposed&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0095" class="elsevierStylePara elsevierViewall">Here&#44; the authors present a rare condition with an unusual clinical and histopathological presentation that may correspond to a clinical manifestation of a mutation of the PTCH gene&#46; To the authors&#8217; knowledge&#44; up to now no other cases of BFH with mucinosis and inflammation have been published in the literature&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Financial support</span><p id="par0100" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Authors&#8217; contributions</span><p id="par0105" class="elsevierStylePara elsevierViewall">Solange Edelman&#58; Drafting and editing of the manuscript&#59; critical review of the literature&#59; critical review of the manuscript&#46;</p><p id="par0110" class="elsevierStylePara elsevierViewall">Adriana Natalia Torres Huamani&#58; Approval of the final version of the manuscript&#59; design and planning of the study&#59; drafting and editing of the manuscript&#59; collection&#44; analysis&#44; and interpretation of data&#59; intellectual participation in the propaedeutic and&#47;or therapeutic conduct of the studied cases&#59; critical review of the literature&#59; critical review of the manuscript&#46;</p><p id="par0115" class="elsevierStylePara elsevierViewall">Adriana Natalia Torres Huamani&#58; Approval of the final version of the manuscript&#59; collection&#44; analysis&#44; and interpretation of data&#46;</p><p id="par0120" class="elsevierStylePara elsevierViewall">Andrea Bettina Cervini&#58; Approval of the final version of the manuscript&#59; design and planning of the study&#59; drafting and editing of the manuscript&#59; intellectual participation in the propaedeutic and&#47;or therapeutic conduct of the studied cases&#59; critical review of the literature&#59; critical review of the manuscript&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflicts of interest</span><p id="par0125" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span></span>"
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        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Basaloid follicular hamartoma is a benign&#44; superficial malformation of hair follicles that can be mistaken both clinical and histopathologically for basal cell carcinoma&#46; Basaloid follicular hamartoma has been linked to a mutation in the PTCH-1 gene&#44; which is part of the same pathway involved in Gorlin-Goltz syndrome&#46; Here we present a 9-year-old patient with an asymptomatic congenital lesion on the forehead&#44; which increased in size over the years&#46; Histopathology showed a basaloid follicular hamartoma associated with follicular mucinosis and inflammation&#46; Gorlin-Goltz syndrome was ruled out by clinical examination&#46;</p></span>"
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        "texto" => "<p id="par0130" class="elsevierStylePara elsevierViewall">Thanks to Dr Stefano Paola&#46;</p>"
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Case Report
Basaloid follicular hamartoma associated with follicular mucinosis and inflammation
Solange Edelman
Autor para correspondência
solangeedelman@hotmail.com

Corresponding author.
, Adriana Natalia Torres Huamani, María Del Valle Centeno, Andrea Bettina Cervini
Servicio de Dermatología, Hospital Nacional de Pediatría “Prof. Dr. Juan P. Garrahan”, Buenos Aires, Argentina
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The child was born with a cleft lip and palate which was surgically corrected&#46; There was no family history of relevance related to this dermatosis&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Physical examination showed two plantar pits and a rounded reddish plaque with warty areas in the central region of the forehead &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; Dermoscopy revealed a reddish scaly lesion suggesting increased keratinization&#44; mainly at the perifollicular level&#44; without a distinctive melanocytic or vascular pattern &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0035" class="elsevierStylePara elsevierViewall">Based on the diagnostic suspicion of nevus sebaceous of Jadassohn or linear verrucous epidermal nevus&#44; a biopsy was performed&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Histological examination with hematoxylin and eosin staining showed in the dermis a basaloid proliferation of basaloid cells with anastomosing cords developed from a hair follicle or lobulated nests with occasional formation of horn cysts arranged among the pilosebaceous units and fibrous stroma&#46; Predominantly mononuclear dense inflammatory infiltrates were seen &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41;&#46; The cells of the lobulated nests were separated by Alcian-blue-positive intercellular material possibly corresponding to mucin deposits &#40;<a class="elsevierStyleCrossRef" href="#fig0020">Fig&#46; 4</a>&#41;&#46; Special stains Bcl-2 demonstrated weak cytoplasmic positivity in the outermost tumor cells only &#40;<a class="elsevierStyleCrossRef" href="#fig0025">Fig&#46; 5</a>&#41; and CD-34 was positive in stromal cells next to tumor cells &#40;<a class="elsevierStyleCrossRef" href="#fig0030">Fig&#46; 6</a>&#41;&#46;</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><elsevierMultimedia ident="fig0020"></elsevierMultimedia><elsevierMultimedia ident="fig0025"></elsevierMultimedia><elsevierMultimedia ident="fig0030"></elsevierMultimedia><p id="par0045" class="elsevierStylePara elsevierViewall">The lesion was surgically removed&#46; Abdominal ultrasound&#44; as well as panoramic maxillary and anterolateral skull XRays&#44; were performed to rule out Gorlin-Goltz syndrome&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Discussion</span><p id="par0050" class="elsevierStylePara elsevierViewall">BFH is a rare&#44; benign&#44; superficial malformation of hair follicles that histologically presents as an epithelial proliferation of basaloid cells and clinically in various forms&#44; with and without associated diseases&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Genetic studies have linked BFH to a mutation in the PTCH-1 gene on chromosomal band 9q23&#46; The gene is part of the same pathway involved in Gorlin-Goltz syndrome&#44; though its expression is less severe&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">The PTCH-1 gene encodes a receptor for the protein product of the Sonic Hedgehog gene &#40;SHH&#41;&#46; The mutation of the gene determines its loss of function&#46; The PTCH-1 receptor forms a receptor complex with another transmembrane protein known as SMO &#40;for &#8220;smoothened&#8221;&#41;&#46; When the SHH protein is absent&#44; the PTCH-1 receptor inactivates SMO and keeps it from transducing a downstream signal&#46; The binding of the SHH protein to the PTCH-1 receptor releases the suppression of SMO&#44; causing the upregulation of hedgehog target genes through a signal cascade that involves transcription factors in the Gli family&#46; Unregulated signaling can lead to increased cell division resulting in abnormal growth and abnormal patterning&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;2</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">BFH may be congenital or acquired&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> The clinical presentation is diverse in the form of skin-colored-to-brown papules&#44; nodules&#44; or plaques on the face&#44; scalp&#44; and occasionally&#44; the trunk&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;4</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">Five different forms have been described&#58; 1- solitary or multiple papules&#44; 2- localized linear or unilateral plaque&#44; that may be distributed along the Blaschko lines&#44; 3- a localized plaque with alopecia&#44; 4- generalized dominantly inherited familial type without the associated disorder&#44; or 5- generalized papules associated with diffuse alopecia and myasthenia gravis&#44; systemic lupus erythematosus&#44; or cystic fibrosis&#46;<a class="elsevierStyleCrossRefs" href="#bib0025"><span class="elsevierStyleSup">5&#8211;7</span></a></p><p id="par0070" class="elsevierStylePara elsevierViewall">BFH may present alone or in association with other hereditary skin diseases&#44; such as Bazex-Dupre-Christol syndrome&#44; Brown-Crounse syndrome&#44; and Happle-Tinschert syndrome&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;7</span></a></p><p id="par0075" class="elsevierStylePara elsevierViewall">Despite variable clinical manifestations&#44; all types of BFH present with the same histopathological features&#44; mainly including multifocal islands and branching cords of basaloid epithelial cells in the papillary dermis&#44; some of which are connected to the epidermis and dilated hair follicles&#46; The formation of keratin cysts is common within the branching cords or lace-like networks of basaloid cells&#46; Neither cellular atypia nor mitotic figures are seen in BFH&#46; Immunohistochemistry is positive for CD-34 in the stroma and for Bcl-2 in the periphery of the trabeculae&#46; The Ki67 index is low&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;6&#8211;8</span></a></p><p id="par0080" class="elsevierStylePara elsevierViewall">The primary entity to consider in the differential diagnosis&#8217;s basal cell carcinoma &#40;BCC&#41;&#44; mainly the infundibulocystic subtype&#46;<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2&#44;4&#44;7</span></a> Clinically&#44; other differential diagnoses of localized form are&#58; adnexal tumors&#44; nevi&#44; trichoepithelioma&#44; syringocystoadenoma&#44; intradermal melanocytic nevus&#44; seborrheic keratosis&#44; sebaceous nevus&#44; syringoma&#44; angiofibroma&#46; BFH is a linear distribution may mimic linear epidermal nevus&#44; striated lichen&#44; and linear morphea&#46; Generalized BFH may represent generalized follicular hamartoma syndrome&#44; tuberous sclerosis&#44; Cowden syndrome&#44; multiple trichoepitheliomas&#44; Gorlin-Goltz syndrome&#44; and Rombo syndrome&#46; The main histologic differential diagnosis includes infundibulocystic BCC&#44; folliculocentric basaloid proliferation&#44; and trichoepithelioma&#46;<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1&#44;6&#44;7&#44;9</span></a></p><p id="par0085" class="elsevierStylePara elsevierViewall">BFH should be closely monitored as they may evolve into BCC&#46;</p><p id="par0090" class="elsevierStylePara elsevierViewall">Different treatments&#44; such as surgery&#44; carbon dioxide laser&#44; and photodynamic therapy have been proposed&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0095" class="elsevierStylePara elsevierViewall">Here&#44; the authors present a rare condition with an unusual clinical and histopathological presentation that may correspond to a clinical manifestation of a mutation of the PTCH gene&#46; To the authors&#8217; knowledge&#44; up to now no other cases of BFH with mucinosis and inflammation have been published in the literature&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Financial support</span><p id="par0100" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Authors&#8217; contributions</span><p id="par0105" class="elsevierStylePara elsevierViewall">Solange Edelman&#58; Drafting and editing of the manuscript&#59; critical review of the literature&#59; critical review of the manuscript&#46;</p><p id="par0110" class="elsevierStylePara elsevierViewall">Adriana Natalia Torres Huamani&#58; Approval of the final version of the manuscript&#59; design and planning of the study&#59; drafting and editing of the manuscript&#59; collection&#44; analysis&#44; and interpretation of data&#59; intellectual participation in the propaedeutic and&#47;or therapeutic conduct of the studied cases&#59; critical review of the literature&#59; critical review of the manuscript&#46;</p><p id="par0115" class="elsevierStylePara elsevierViewall">Adriana Natalia Torres Huamani&#58; Approval of the final version of the manuscript&#59; collection&#44; analysis&#44; and interpretation of data&#46;</p><p id="par0120" class="elsevierStylePara elsevierViewall">Andrea Bettina Cervini&#58; Approval of the final version of the manuscript&#59; design and planning of the study&#59; drafting and editing of the manuscript&#59; intellectual participation in the propaedeutic and&#47;or therapeutic conduct of the studied cases&#59; critical review of the literature&#59; critical review of the manuscript&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflicts of interest</span><p id="par0125" class="elsevierStylePara elsevierViewall">None declared&#46;</p></span></span>"
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ISSN: 03650596
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