{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:23:03Z","timestamp":1787772183708,"version":"build-2784847793"},"reference-count":21,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Focal dermal hypoplasia (Goltz syndrome) is a genetic multisystem disorder characterized primarily by involvement of the skin associated to face, skeletal, and eyes anomalies. The objective of the present series is to shed light on this rare syndrome and these atypical manifestations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methodology:<\/jats:title>\n                    <jats:p>Our study reports the case of five Moroccan patients who present typical clinical picture of the Goltz syndrome with some rare manifestations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>A total of 5 patients with Goltz syndrome were evaluated. All of them are female with one familial case. The age ranged from 8 months to 35 years. A characteristic Blaschkoid hypo- and hyper-pigmented skin lesions, congenital nodular fat herniation, and skin atrophy were present in all patients. Ocular manifestations were present in 80% of patients. Cranio-facial deformity was seen in 80% of patients. Short stature and intellectual delay were documented in 80% and 40% of patients, respectively. Limb abnormality was found in all patients. Two patients had a cleft lip, one of which unusual lateral facial cleft.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Limitations:<\/jats:title>\n                    <jats:p>Genetic testing could not be performed in the present series.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>Through this work we will discuss the different clinical signs and genetic aspects of Goltz syndrome and the interest of a good clinical expertise.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijd.ijd_508_22","type":"journal-article","created":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T01:44:33Z","timestamp":1715737473000},"page":"122","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":7,"title":["Focal Dermal Hypoplasia"],"prefix":"10.4103","volume":"68","author":[{"given":"Maria","family":"Mansouri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima Zohra","family":"Bouzid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Said.","family":"Amal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oufae","family":"Hocar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nissrine","family":"Aboussair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-40-20240829","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1001\/archderm.1962.01590120006002","article-title":"Focal dermal hypoplasia","volume":"86","author":"Goltz","year":"1962","journal-title":"Arch Dermatol"},{"key":"R2-40-20240829","first-page":"476","article-title":"Atrophoderma linearis maculosa et papillomatosis congenitalis","volume":"16","author":"Liebermann","year":"1935","journal-title":"Acta Derm Vener"},{"key":"R3-40-20240829","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1111\/j.1468-3083.2010.03782.x","article-title":"Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion","volume":"25","author":"Vreeburg","year":"2011","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"R4-40-20240829","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.jaapos.2013.11.015","article-title":"Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia","volume":"18","author":"Young","year":"2014","journal-title":"J AAPOS"},{"key":"R5-40-20240829","doi-asserted-by":"crossref","first-page":"E618","DOI":"10.1002\/humu.20992","article-title":"PORCN mutations in focal dermal hypoplasia: Coping with lethality","volume":"30","author":"Bornholdt","year":"2009","journal-title":"Hum Mutat"},{"key":"R6-40-20240829","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1111\/j.1525-1470.1998.tb01376.x","article-title":"What syndrome is this? 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An update","volume":"128","author":"Goltz","year":"1992","journal-title":"Arch Dermatol"},{"key":"R8-40-20240829","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1016\/0190-9622(91)70274-6","article-title":"Minimal focal dermal hypoplasia in a man: A case of father to daughter transmission","volume":"25","author":"Mah\u00e9","year":"1991","journal-title":"J Am Acad Dermatol"},{"key":"R9-40-20240829","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1002\/ajmg.c.31472","article-title":"Dermatologic findings of focal dermal hypoplasia (Goltz syndrome)","volume":"172C","author":"Bree","year":"2016","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"R10-40-20240829","doi-asserted-by":"crossref","first-page":"498","DOI":"10.4103\/ijd.IJD_317_17","article-title":"Focal dermal hypoplasia (Goltz syndrome): Across-sectional study from eastern India","volume":"62","author":"Ghosh","year":"2017","journal-title":"Indian J Dermatol"},{"key":"R11-40-20240829","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1136\/jmg.27.3.180","article-title":"Focal dermal hypoplasia (Goltz syndrome)","volume":"27","author":"Temple","year":"1990","journal-title":"J Med Genet"},{"key":"R12-40-20240829","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1002\/ajmg.c.31470","article-title":"The orthopedic characterization of Goltz syndrome","volume":"172C","author":"Smith","year":"2016","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"R13-40-20240829","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1136\/jmg.27.3.180","article-title":"Focal dermal hypoplasia (Goltz syndrome)","volume":"27","author":"Temple","year":"1990","journal-title":"J Med Genet"},{"key":"R14-40-20240829","doi-asserted-by":"crossref","first-page":"279","DOI":"10.4103\/0378-6323.16624","article-title":"Focal dermal hypoplasia (Goltz syndrome)","volume":"71","author":"Riyaz","year":"2005","journal-title":"Indian J Dermatol Venereol Leprol"},{"key":"R15-40-20240829","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1111\/j.1365-4632.2009.04077.x","article-title":"Goltz syndrome in a moderately affected newborn boy","volume":"48","author":"Tollefson","year":"2009","journal-title":"Int J Dermatol"},{"key":"R16-40-20240829","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1002\/ajmg.c.31473","article-title":"Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals","volume":"172C","author":"Bostwick","year":"2016","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"R17-40-20240829","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/ajmg.c.31468","article-title":"Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome)","volume":"172C","author":"Motil","year":"2016","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"R18-40-20240829","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1002\/ajmg.c.31471","article-title":"Cognitive and psychological functioning in focal dermal hypoplasia","volume":"172C","author":"Deidrick","year":"2016","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"R19-40-20240829","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1038\/ng2052","article-title":"Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia","volume":"39","author":"Grzeschik","year":"2007","journal-title":"Nat Genet"},{"key":"R20-40-20240829","doi-asserted-by":"crossref","first-page":"836","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","year":"2007","journal-title":"Nat Genet"},{"key":"R21-40-20240829","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1111\/ced.13047","article-title":"Focal dermal hypoplasia: Inheritance from father to daughter","volume":"42","author":"Durack","year":"2017","journal-title":"Clin Exp Dermatol"}],"container-title":["Indian Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/ijd.ijd_508_22","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T18:32:31Z","timestamp":1787769151000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/ijd.ijd_508_22"}},"subtitle":["Case Series"],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.4103\/ijd.ijd_508_22","relation":{},"ISSN":["0019-5154"],"issn-type":[{"value":"0019-5154","type":"print"}],"subject":[],"published":{"date-parts":[[2023,1]]}}}