{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T05:20:17Z","timestamp":1763961617752,"version":"3.45.0"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,23]]},"DOI":"10.7759\/cureus.97595","type":"journal-article","created":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T05:17:08Z","timestamp":1763961428000},"source":"Crossref","is-referenced-by-count":0,"title":["Case of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve"],"prefix":"10.7759","author":[{"given":"Blagovest","family":"Stoimenov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralitsa","family":"Pancheva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ventsislava","family":"Pencheva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vasil","family":"Kolev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rozita","family":"Karakasheva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitar","family":"Stoyanov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Stancheva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Radoslava","family":"Tsrancheva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svilen","family":"Donev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Petrova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ventseslav","family":"Yordanov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonia","family":"Vasileva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgi","family":"Ovnarski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diyan","family":"Genov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","article-title":"PORCN-related developmental disorders","author":"Sutton VR","year":"1993","unstructured":"Sutton VR. PORCN-related developmental disorders. GeneReviews\u00ae [Internet]. Adam MP, Feldman J, Mirzaa GM, et al. (ed): University of Washington, Seattle; 1993-2025."},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.4103\/ijd.IJD_317_17","article-title":"Focal dermal hypoplasia (Goltz syndrome): a cross-sectional study from eastern India","volume":"62","author":"Ghosh SK","year":"2017","unstructured":"Ghosh SK, Dutta A, Sarkar S, Nag SS, Biswas SK, Mandal P. Focal dermal hypoplasia (Goltz syndrome): a cross-sectional study from eastern India. Indian J Dermatol. 2017, 62:498-504. 10.4103\/ijd.IJD_317_17","journal-title":"Indian J Dermatol"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.143.1.109-c","article-title":"Erythematous atrophic macules and papules following the lines of Blaschko. Focal dermal hypoplasia (FDH), or Goltz syndrome","volume":"143","author":"Quain RD","year":"2007","unstructured":"Quain RD, Militello G, Junkins-Hopkins J, Yan AC, Crawford GH. Erythematous atrophic macules and papules following the lines of Blaschko. Focal dermal hypoplasia (FDH), or Goltz syndrome. Arch Dermatol. 2007, 143:109-14. 10.1001\/archderm.143.1.109-c","journal-title":"Arch Dermatol"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31478","article-title":"Oral phenotype and variation in focal dermal hypoplasia","volume":"172C","author":"Wright JT","year":"2016","unstructured":"Wright JT, Puranik CP, Farrington F. Oral phenotype and variation in focal dermal hypoplasia. Am J Med Genet C Semin Med Genet. 2016, 172C:52-8. 10.1002\/ajmg.c.31478","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1962.01590120006002","article-title":"Focal dermal hypoplasia","volume":"86","author":"Goltz RW","year":"1962","unstructured":"Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Dermatol. 1962, 86:708-17. 10.1001\/archderm.1962.01590120006002","journal-title":"Arch Dermatol"},{"key":"ref6","doi-asserted-by":"crossref","DOI":"10.5070\/D373V5D63S","article-title":"A rare multisystem disorder: Goltz syndrome - case report and brief overview","volume":"16","author":"Jain A","year":"2010","unstructured":"Jain A, Chander R, Garg T, Nikita, Shetty GS. A rare multisystem disorder: Goltz syndrome - case report and brief overview. Dermatol Online J. 2010, 16:2.","journal-title":"Dermatol Online J"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12031","article-title":"Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome","volume":"30","author":"Alkindi S","year":"2013","unstructured":"Alkindi S, Battin M, Aftimos S, Purvis D. Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome. Pediatr Dermatol. 2013, 30:476-9. 10.1111\/pde.12031","journal-title":"Pediatr Dermatol"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.annder.2017.06.005","article-title":"[Focal dermal hypoplasia (Goltz syndrome) associated with bicuspid aortic valve]","volume":"144","author":"Belarbi F","year":"2017","unstructured":"Belarbi F, Amal S, Akhdari N, Amouzoune S, Belbachir A, Rais H, Hocar O. [Focal dermal hypoplasia (Goltz syndrome) associated with bicuspid aortic valve]. Ann Dermatol Venereol. 2017, 144:719-20. 10.1016\/j.annder.2017.06.005","journal-title":"Ann Dermatol Venereol"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/ng2057","article-title":"Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia","volume":"39","author":"Wang X","year":"2007","unstructured":"Wang X, Reid Sutton V, Omar Peraza-Llanes J, et al.. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007, 39:836-8. 10.1038\/ng2057","journal-title":"Nat Genet"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/426609-case-of-a-male-patient-with-focal-dermal-hypoplasia-goltz-syndrome-esophageal-polyps-scoliosis-and-bicuspid-aortic-valve","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T05:17:09Z","timestamp":1763961429000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/426609-case-of-a-male-patient-with-focal-dermal-hypoplasia-goltz-syndrome-esophageal-polyps-scoliosis-and-bicuspid-aortic-valve"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,23]]},"references-count":9,"URL":"https:\/\/doi.org\/10.7759\/cureus.97595","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2025,11,23]]}}}