{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T17:55:01Z","timestamp":1777312501122,"version":"3.51.4"},"reference-count":24,"publisher":"Hamad bin Khalifa University Press (HBKU Press)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,2,1]]},"abstract":"<jats:p>Oculo-ectodermal syndrome (OES - OMIM 600628), also known as Toriello Lacassie Droste syndrome, is a very rare condition, first described by Toriello et al., in 1993. OES has been proposed to be a mild variant of encephalocraniocutaneous lipomatosis (ECCL). It is characterized by aplasia cutis congenita (ACC), epibulbar dermoids, coarctation of the aorta, arachnoid cysts in the brain, seizure disorder, hyperpigmented nevi, non-ossifying fibromas and a predisposition to develop giant cell tumors of the jaw. There are few reported cases of OES worldwide but with no definite diagnostic criteria yet. We present a case in a child with unilateral hyperpigmented nevi and ACC on the scalp, ocular lesions (lipodermoid cysts and coloboma), temporal arachnoid cyst, spinal lipomatosis and aortic coarctation with the aim of enhancing the foundation to establish diagnostic criteria for this condition. It additionally serves as a teaching point to emphasize the importance of pursuing a definite diagnosis when faced with such a multisystem illness, to counsel patients and their parents regarding long term morbidity and overall prognosis.<\/jats:p>","DOI":"10.5339\/qmj.2014.18","type":"journal-article","created":{"date-parts":[[2014,12,9]],"date-time":"2014-12-09T07:37:15Z","timestamp":1418110635000},"source":"Crossref","is-referenced-by-count":2,"title":["Oculo-ectodermal syndrome: A case report and further delineation of the syndrome"],"prefix":"10.5339","volume":"2014","author":[{"given":"Fajish","family":"Habib","sequence":"first","affiliation":[{"name":"1Departments of Pediatrics, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahmoud F.","family":"Elsaid","sequence":"additional","affiliation":[{"name":"2Pediatric Neurology, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid Yacout","family":"Salem","sequence":"additional","affiliation":[{"name":"3Department of Radiology, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid Omer","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"2Pediatric Neurology, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid","family":"Mohamed","sequence":"additional","affiliation":[{"name":"2Pediatric Neurology, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3277","reference":[{"key":"CIT0001","series-title":"Am J Med Genet","first-page":"764","article-title":"Provisionally unique syndrome of ocular and ectodermal defects in two unrelated boys","volume":"45","author":"Toriello\n\u00a0\nHV","year":"1993"},{"key":"CIT0002","series-title":"Am J Med Genet A","first-page":"2959","article-title":"Expanding the phenotype of oculoectodermal syndrome: Possible relationship to encephalocraniocutaneous lipomatosis","volume":"143A","author":"Ardinger\n\u00a0\nHH","year":"2007"},{"key":"CIT0003","series-title":"Am J Med Genet Part A","first-page":"577","article-title":"Oculoectodermal syndrome with coarctationof the aorta and moyamoya disease: Expanding the phenotype to include vascularanomalies","volume":"155","author":"Horev\n\u00a0\nL","year":"2011"},{"key":"CIT0004","series-title":"J Med Genet","first-page":"721","article-title":"Encephalocraniocutaneous Lipomatosis","volume":"46","author":"Moog\n\u00a0\nU","year":"2009"},{"key":"CIT0005","series-title":"Clin Dysmorphol","first-page":"39","article-title":"New clinical findings in oculoectodermal syndrome","volume":"9","author":"Silengo\n\u00a0\nM","year":"2000"},{"key":"CIT0006","series-title":"Am J Med Genet","first-page":"317","article-title":"Aplasia cutis congenita with epibulbar dermoids: Further evidence for syndromic identity of the ocular ectodermal syndrome","volume":"53","author":"Gardner\n\u00a0\nJ","year":"1994"},{"key":"CIT0007","series-title":"Clin Dysmorphol","first-page":"81","article-title":"Oculoectodermal syndrome: A new tumour predisposition syndrome","volume":"13","author":"Federici\n\u00a0\nS","year":"2004"},{"key":"CIT0008","series-title":"Am J Med Genet Part A","first-page":"709","article-title":"Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: Blind men and an elephant or separate syndromes?","volume":"140A","author":"Hunter\n\u00a0\nAG","year":"2006"},{"key":"CIT0009","series-title":"Ophthalmic Genet","first-page":"131","article-title":"A new case of oculoectodermal syndrome","volume":"26","author":"Lee\n\u00a0\nTK","year":"2005"},{"key":"CIT0010","series-title":"Am J Med Genet","first-page":"391","article-title":"Oculoectodermal syndrome: Report of two further cases","volume":"91","author":"Lees\n\u00a0\nM","year":"2000"},{"key":"CIT0011","series-title":"Clin Dysmorphol","first-page":"179","article-title":"A severe case of oculoectodermal syndrome?","volume":"11","author":"James\n\u00a0\nPA","year":"2000"},{"key":"CIT0012","series-title":"American Journal of Medical Genetics Part A","article-title":"Oculo-ectodermal syndrome: Report of a case with mosaicism for a deletion on Xq12","author":"Fickie\n\u00a0\nMR","year":"2011"},{"key":"CIT0001","series-title":"Am J Med Genet","first-page":"764","article-title":"Provisionally unique syndrome of ocular and ectodermal defects in two unrelated boys","volume":"45","author":"Toriello\n\u00a0\nHV","year":"1993"},{"key":"CIT0002","series-title":"Am J Med Genet A","first-page":"2959","article-title":"Expanding the phenotype of oculoectodermal syndrome: Possible relationship to encephalocraniocutaneous lipomatosis","volume":"143A","author":"Ardinger\n\u00a0\nHH","year":"2007"},{"key":"CIT0003","series-title":"Am J Med Genet Part A","first-page":"577","article-title":"Oculoectodermal syndrome with coarctationof the aorta and moyamoya disease: Expanding the phenotype to include vascularanomalies","volume":"155","author":"Horev\n\u00a0\nL","year":"2011"},{"key":"CIT0004","series-title":"J Med Genet","first-page":"721","article-title":"Encephalocraniocutaneous Lipomatosis","volume":"46","author":"Moog\n\u00a0\nU","year":"2009"},{"key":"CIT0005","series-title":"Clin Dysmorphol","first-page":"39","article-title":"New clinical findings in oculoectodermal syndrome","volume":"9","author":"Silengo\n\u00a0\nM","year":"2000"},{"key":"CIT0006","series-title":"Am J Med Genet","first-page":"317","article-title":"Aplasia cutis congenita with epibulbar dermoids: Further evidence for syndromic identity of the ocular ectodermal syndrome","volume":"53","author":"Gardner\n\u00a0\nJ","year":"1994"},{"key":"CIT0007","series-title":"Clin Dysmorphol","first-page":"81","article-title":"Oculoectodermal syndrome: A new tumour predisposition syndrome","volume":"13","author":"Federici\n\u00a0\nS","year":"2004"},{"key":"CIT0008","series-title":"Am J Med Genet Part A","first-page":"709","article-title":"Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: Blind men and an elephant or separate syndromes?","volume":"140A","author":"Hunter\n\u00a0\nAG","year":"2006"},{"key":"CIT0009","series-title":"Ophthalmic Genet","first-page":"131","article-title":"A new case of oculoectodermal syndrome","volume":"26","author":"Lee\n\u00a0\nTK","year":"2005"},{"key":"CIT0010","series-title":"Am J Med Genet","first-page":"391","article-title":"Oculoectodermal syndrome: Report of two further cases","volume":"91","author":"Lees\n\u00a0\nM","year":"2000"},{"key":"CIT0011","series-title":"Clin Dysmorphol","first-page":"179","article-title":"A severe case of oculoectodermal syndrome?","volume":"11","author":"James\n\u00a0\nPA","year":"2000"},{"key":"CIT0012","series-title":"American Journal of Medical Genetics Part A","article-title":"Oculo-ectodermal syndrome: Report of a case with mosaicism for a deletion on Xq12","author":"Fickie\n\u00a0\nMR","year":"2011"}],"container-title":["Qatar Medical Journal"],"original-title":[],"link":[{"URL":"https:\/\/www.qscience.com\/view\/journals\/qmj\/2014\/2\/article-18.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.qscience.com\/downloadpdf\/journals\/qmj\/2014\/2\/article-18.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/www.qscience.com\/downloadpdf\/journals\/qmj\/2014\/2\/article-18.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T17:20:09Z","timestamp":1777310409000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.qscience.com\/view\/journals\/qmj\/2014\/2\/article-18.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,1]]},"references-count":24,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.5339\/qmj.2014.18","relation":{},"ISSN":["2227-0426"],"issn-type":[{"value":"2227-0426","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,1]]}}}