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

Qatar Medical Journal
Fajish HabibKhalid Mohamed

Abstract

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.

References

Mar 15, 1993·American Journal of Medical Genetics·H V TorielloJ V Higgins
Jan 29, 2000·Clinical Dysmorphology·M SilengoL Jarre
Apr 15, 2000·American Journal of Medical Genetics·M LeesW Reardon
Jun 20, 2002·Clinical Dysmorphology·Paul A James, Julie McGaughran
Apr 2, 2004·Clinical Dysmorphology·Sonia FedericiDidier Lacombe
Nov 8, 2005·Ophthalmic Genetics·Thomas K M LeeJ Stephen Bamforth
Oct 30, 2007·American Journal of Medical Genetics. Part a·Holly H ArdingerMichael L Begleiter
Jul 4, 2009·Journal of Medical Genetics·U Moog

❮ Previous
Next ❯

Citations

Oct 20, 2017·Journal of Perinatology : Official Journal of the California Perinatal Association·S R HumphreyB Drolet
Jun 21, 2018·Ophthalmic Plastic and Reconstructive Surgery·Marissa K ShojiSuzanne K Freitag
Nov 25, 2016·Case Reports in Neurological Medicine·Sinead CulletonHong Kuan Kok
May 3, 2021·Orphanet Journal of Rare Diseases·Daphna Landau PratJames A Katowitz

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsy

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

© 2022 Meta ULC. All rights reserved