{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:23:07Z","timestamp":1791894187857,"version":"4.3.4"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,2,9]],"date-time":"2016-02-09T00:00:00Z","timestamp":1454976000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100003166","name":"National Foundation for Ectodermal Dysplasias","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Goltz syndrome, caused by mutations in <jats:italic>PORCN<\/jats:italic>, is an X\u2010linked dominant ectodermal dysplasia which is also known as focal dermal hypoplasia. This name is derived from the predominant pathologic skin findings of the syndrome. Nineteen Goltz\u2010affected participants attended a multidisciplinary scientific and clinical conference convened by the National Foundation for Ectodermal Dysplasia which allowed further characterization of the features of this very rare condition. At birth, the affected areas of skin are typically erythematous and fragile. The hallmark cutaneous features, which vary widely due to mosacism and X\u2010inactivation, include the previously described skin changes of asymmetric Blaschko\u2010linear and reticulated atrophy, pigmentary changes, and telangectasias. Lipomatous changes and papillomas as characteristically defined were reported in the majority of patients. A newly recognized skin finding was progressive hyperpigmented freckling that occurred within the hypopigmented areas which were noted to be photosensitive. Many patients also had a pebbly texture to the central face, dorsal hands and feet. Punctate erosions within the atrophic areas and hypohidrosis were also common. Most had patchy alopecia and many had diffusely thin hair. Scanning electron microscopy of the hair shafts revealed abnormalities in the majority of participants with several different features identified, including atrophic hairs with reduced diameters, markedly flattened hairs as noted in cross\u2010sectional views, trichorrhexis nodosa, pili torti, and pili trianguli et canaliculi. Nail changes included V\u2010nicking and longitudinal ridging of the nail plate, in addition to micronychia. Early recognition of the dermatologic features, in addition to the variable but universal limb anomalies, of Goltz syndrome will allow early and accurate diagnosis without the need for extensive diagnostic studies, while also allowing for accurate prognosis and appropriate genetic counseling. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31472","type":"journal-article","created":{"date-parts":[[2016,2,9]],"date-time":"2016-02-09T13:02:40Z","timestamp":1455022960000},"page":"44-51","source":"Crossref","is-referenced-by-count":44,"title":["Dermatologic findings of focal dermal hypoplasia (Goltz syndrome)"],"prefix":"10.1002","volume":"172","author":[{"given":"Alanna F.","family":"Bree","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothy K.","family":"Grange","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. John","family":"Hicks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W.","family":"Goltz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,2,9]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1962.01590120006002"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2052"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1965.01600150028005"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clindermatol.2010.09.012"},{"key":"e_1_2_6_6_1","first-page":"1","volume-title":"GeneReviews","author":"Sutton VR","year":"2013"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.3.180"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/odi.12083"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2057"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.31472","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.31472","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31472","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T06:47:46Z","timestamp":1694587666000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31472"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,9]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["10.1002\/ajmg.c.31472"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31472","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,9]]}}}