<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>2795-5001</journal-id>
<journal-title><![CDATA[Portuguese Journal of Dermatology and Venereology]]></journal-title>
<abbrev-journal-title><![CDATA[Port J Dermatol Venereol.]]></abbrev-journal-title>
<issn>2795-5001</issn>
<publisher>
<publisher-name><![CDATA[Permanyer Publications]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2795-50012025000300199</article-id>
<article-id pub-id-type="doi">10.24875/pjdv.25000007</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[Punctate palmoplantar keratoderma type I: the clinical and genetic features of two family members with AAGAB gene mutation]]></article-title>
<article-title xml:lang="pt"><![CDATA[Queratodermia palmoplantar punctata do tipo I: as características clínicas e genéticas de dois membros familiares com mutação do gene AAGAB]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Sun]]></surname>
<given-names><![CDATA[Lanyu]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lopes]]></surname>
<given-names><![CDATA[Leonor]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Vasconcelos]]></surname>
<given-names><![CDATA[Pedro de]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Soares-de-Almeida]]></surname>
<given-names><![CDATA[Luís]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Miltenberger-Miltenyi]]></surname>
<given-names><![CDATA[Gabriel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ferreira]]></surname>
<given-names><![CDATA[João]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A3"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Filipe]]></surname>
<given-names><![CDATA[Paulo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
<xref ref-type="aff" rid="A a"/>
<xref ref-type="aff" rid="A3"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Unidade Local de Saúde Santa Maria Serviço de Dermatologia ]]></institution>
<addr-line><![CDATA[Lisbon ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Faculdade, Medicina da Universidade de Lisboa Clínica Universitária de Dermatologia ]]></institution>
<addr-line><![CDATA[Lisbon ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Universidade de Lisboa Faculdade de Medicina IMM João Lobo Antunes]]></institution>
<addr-line><![CDATA[Lisbon ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>09</month>
<year>2025</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>09</month>
<year>2025</year>
</pub-date>
<volume>83</volume>
<numero>3</numero>
<fpage>199</fpage>
<lpage>202</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S2795-50012025000300199&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S2795-50012025000300199&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S2795-50012025000300199&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Hereditary punctate palmoplantar keratoderma type I (PPPK1) is a rare autosomal dominant disorder characterized by hyperkeratotic papules on the palms and soles, typically appearing in adolescence but occasionally manifesting later in life. We describe two family members, an African woman (61 years old) and her daughter (29 years old), presenting with multiple asymptomatic hyperkeratotic papules on the palms and soles. Histopathology revealed orthohyperkeratosis, acanthosis, hypergranulosis, and elongated rete ridges. Genetic analysis identified a heterozygous c.535+1G&gt;A mutation in the AAGAB gene. Despite topical salicylic acid, urea, and tretinoin treatment, only minimal improvement was observed. PPPK1 pathogenesis involves genetic factors, with AAGAB being a major contributor, although other loci may be implicated. These cases highlight the phenotypic variability and delayed disease onset in some individuals, underscoring the need for further investigation into the underlying genetic mechanisms and effective treatment strategies.]]></p></abstract>
<abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo A queratodermia palmo-plantar punctata do tipo I (PPPK1) é uma doença autossómica dominante rara, caracterizada por pápulas hiperqueratósicas nas palmas e plantas, que geralmente surgem na adolescência, mas podem manifestar-se mais tarde na vida. Descrevemos dois membros de uma mesma família, uma mulher africana de 61 anos e a sua filha de 29 anos, ambas com múltiplas pápulas hiperqueratósicas assintomáticas nas palmas e plantas. A histopatologia revelou hiperqueratose ortoqueratósica, acantose, hipergranulose e cristas epidérmicas alongadas. A análise genética identificou uma mutação heterozigótica c.535+1G&gt;A no gene AAGAB. Apesar do tratamento tópico com ácido salicílico, ureia e tretinoína, foi observada apenas uma melhoria mínima. A patogénese da PPPK1 envolve fatores genéticos, sendo o AAGAB um contributo importante, embora outros loci possam estar envolvidos. Estes casos destacam a variabilidade fenotípica e o início tardio da doença em alguns indivíduos, sublinhando a necessidade de mais estudos sobre os mecanismos genéticos subjacentes e estratégias de tratamento eficazes.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[Punctate palmoplantar keratoderma]]></kwd>
<kwd lng="en"><![CDATA[Hereditary keratodermas]]></kwd>
<kwd lng="en"><![CDATA[AAGAB mutation]]></kwd>
<kwd lng="pt"><![CDATA[Queratodermia palmo-plantar punctata]]></kwd>
<kwd lng="pt"><![CDATA[Queratodermia hereditária]]></kwd>
<kwd lng="pt"><![CDATA[Mutação AAGAB]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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