Oculo-ectodermal syndrome: A case report and further delineation of the syndrome

Fajish Habib; Mahmoud F. Elsaid; Khalid Yacout Salem; Khalid Omer Ibrahim; Khalid Mohamed

doi:10.5339/qmj.2014.18

ISSN: 0253-8253
E-ISSN: 2227-0426

oa Oculo-ectodermal syndrome: A case report and further delineation of the syndrome
المؤلفون: Fajish Habib¹, Mahmoud F. Elsaid², Khalid Yacout Salem³, Khalid Omer Ibrahim² and Khalid Mohamed²
عرض الانتماءات إخفاء الانتسابات المهنية

االانتسابات المهنيه ¹ ¹Departments of Pediatrics, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar ² ²Pediatric Neurology, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar ³ ³Department of Radiology, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar
Source: Qatar Medical Journal, Volume 2014, Issue 2, يناير ٢٠١٥, 18
DOI https://doi.org/10.5339/qmj.2014.18
- المستلَم: ٠٨ مايو ٢٠١٤
- المقبول: ٠٥ نوفمبر ٢٠١٤
- تاريخ النشر الكترونيا: ٠١ فبراير ٢٠١٥

ملخص

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.

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References

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Oculo-ectodermal syndrome: A case report and further delineation of the syndrome

Qatar Medical Journal 2014, 18 (٢٠١٥); https://doi.org/10.5339/qmj.2014.18

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نوع المستند: Case Report

الموضوعات الرئيسية oculo-ectodermal syndrome, OES and Toriello Lacassie Droste syndrome

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مزيد أقل

oa Oculo-ectodermal syndrome: A case report and further delineation of the syndrome

ملخص

Supplementary File 1

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