Oculo-ectodermal syndrome: A case report and further delineation of the syndrome.
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.
Departments of Pediatrics, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
Fajish
F
Habib
Pediatric Neurology, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
Mahmoud F
MF
Elsaid
Department of Radiology, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
Khalid Yacout
KY
Salem
Pediatric Neurology, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
Khalid Omer
KO
Ibrahim
Pediatric Neurology, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
Khalid
K
Mohamed
OES; Toriello Lacassie Droste syndrome; oculo-ectodermal syndrome