{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T19:05:06Z","timestamp":1789326306667,"version":"build-2803163510"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,13]]},"DOI":"10.7759\/cureus.116184","type":"journal-article","created":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T18:47:42Z","timestamp":1789325262000},"source":"Crossref","is-referenced-by-count":0,"title":["Punctate Palmoplantar Keratoderma Type 1 With a Multigenerational Family History: A Case Report"],"prefix":"10.7759","author":[{"given":"Fernando J","family":"Medina-Olivares","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia Fernanda","family":"Pati\u00f1o Orellana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix R","family":"Hern\u00e1ndez Altamirano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Vega-Memije","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3430","article-title":"Diagnosis and management of inherited palmoplantar keratodermas","volume":"100","author":"Thomas BR","year":"2020","unstructured":"Thomas BR, O'Toole EA. Diagnosis and management of inherited palmoplantar keratodermas. Acta Derm Venereol. 2020, 100:adv00094. 10.2340\/00015555-3430","journal-title":"Acta Derm Venereol"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.024","article-title":"Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer","volume":"91","author":"Giehl KA","year":"2012","unstructured":"Giehl KA, Eckstein GN, Pasternack SM, et al.. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am J Hum Genet. 2012, 91:754-9. 10.1016\/j.ajhg.2012.08.024","journal-title":"Am J Hum Genet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2444","article-title":"Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma","volume":"44","author":"Pohler E","year":"2012","unstructured":"Pohler E, Mamai O, Hirst J, et al.. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet. 2012, 44:1272-6. 10.1038\/ng.2444","journal-title":"Nat Genet"},{"key":"ref4","article-title":"Queratodermia palmoplantar punctata de Buschke-Fisher-Brauer","volume":"63","author":"Endara-Camacho A","year":"2019","unstructured":"Endara-Camacho A, Novelo-Soto A, Manr\u00edquez-Robles A, Toussaint-Caire S, Vega-Memije ME. Queratodermia palmoplantar punctata de Buschke-Fisher-Brauer. Dermatol Rev Mex. 2019, 63:326-30.","journal-title":"Dermatol Rev Mex"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-1832","article-title":"Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate","volume":"95","author":"Nomura T","year":"2015","unstructured":"Nomura T, Yoneta A, Pohler E, et al.. Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate. Acta Derm Venereol. 2015, 95:110-1. 10.2340\/00015555-1832","journal-title":"Acta Derm Venereol"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2304","article-title":"Eight novel mutations confirm the role of AAGAB in punctate palmoplantar keratoderma type 1 (Buschke-Fischer-Brauer) and show broad phenotypic variability","volume":"96","author":"Giehl KA","year":"2016","unstructured":"Giehl KA, Herzinger T, Wolff H, et al.. Eight novel mutations confirm the role of AAGAB in punctate palmoplantar keratoderma type 1 (Buschke-Fischer-Brauer) and show broad phenotypic variability. Acta Derm Venereol. 2016, 96:468-72. 10.2340\/00015555-2304","journal-title":"Acta Derm Venereol"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12927","article-title":"New and recurrent AAGAB mutations in punctate palmoplantar keratoderma","volume":"171","author":"Pohler E","year":"2014","unstructured":"Pohler E, Huber M, Boonen SE, et al.. New and recurrent AAGAB mutations in punctate palmoplantar keratoderma. Br J Dermatol. 2014, 171:433-6. 10.1111\/bjd.12927","journal-title":"Br J Dermatol"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.13906","article-title":"Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing","volume":"31","author":"Kono M","year":"2017","unstructured":"Kono M, Fukai K, Shimizu N, et al.. Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing. J Eur Acad Dermatol Venereol. 2017, 31:e175-6. 10.1111\/jdv.13906","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.16162","article-title":"Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: two Japanese familial case reports and review of reported mutations","volume":"48","author":"Hasegawa A","year":"2021","unstructured":"Hasegawa A, Hayashi R, Shimomura Y, Hirashima M, Abe R. Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: two Japanese familial case reports and review of reported mutations. J Dermatol. 2021, 48:1926-30. 10.1111\/1346-8138.16162","journal-title":"J Dermatol"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.243","article-title":"Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling","volume":"133","author":"P\u00f6hler E","year":"2013","unstructured":"P\u00f6hler E, Zamiri M, Harkins CP, et al.. Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling. J Invest Dermatol. 2013, 133:2805-8. 10.1038\/jid.2013.243","journal-title":"J Invest Dermatol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-023-02862-8","article-title":"Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature","volume":"18","author":"Gram SB","year":"2023","unstructured":"Gram SB, Bjerrelund J, Jelsig AM, Bygum A, Leboeuf-Yde C, Ousager LB. Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature. Orphanet J Rare Dis. 2023, 18:290. 10.1186\/s13023-023-02862-8","journal-title":"Orphanet J Rare Dis"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.12916","article-title":"Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: case report and review of the published work","volume":"42","author":"Nomura T","year":"2015","unstructured":"Nomura T, Moriuchi R, Takeda M, et al.. Low-dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: case report and review of the published work. J Dermatol. 2015, 42:889-92. 10.1111\/1346-8138.12916","journal-title":"J Dermatol"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.19144","article-title":"Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature","volume":"184","author":"Bodemer C","year":"2021","unstructured":"Bodemer C, Steijlen P, Mazereeuw-Hautier J, O'Toole EA. Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature. Br J Dermatol. 2021, 184:393-400. 10.1111\/bjd.19144","journal-title":"Br J Dermatol"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/530669-punctate-palmoplantar-keratoderma-type-1-with-a-multigenerational-family-history-a-case-report","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T18:47:43Z","timestamp":1789325263000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/530669-punctate-palmoplantar-keratoderma-type-1-with-a-multigenerational-family-history-a-case-report"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,13]]},"references-count":13,"URL":"https:\/\/doi.org\/10.7759\/cureus.116184","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9,13]]}}}