Oculoectodermal syndrome: twentieth described case with new manifestations

Abstract

Oculoectodermal syndrome is a rare disease characterized by the association of aplasia cutis congenita, epibulbar dermoids, and other abnormalities. This report describes the twentieth case of the disease. We report a 4-year-old female child who presented with the classical features of the syndrome: aplasia cutis congenita and epibulbar dermoids. Our case expands the clinical spectrum of the disease to include: diffuse hyperpigmentation (some following the Blaschko´s lines); hypopigmented skin areas on the trunk; arachnoid cyst on the right fronto-parietal border; rounded left side of the hippocampus; and dermoid cyst underlying the bulb-medullary transition. Our patient also reported infantile hemangioma on the right wrist and verrucous hemangioma on the left leg, the latter not previously described in the literature.

Ocular manifestations of ectodermal dysplasia

“…OES, also named Toriello Lacassie Droste syndrome, was first described by Toriello et al [ 19 ] in 1993. About 20 cases have been reported in the literature [ 20 , 21 ]. It is caused by somatic variants in the KRAS gene on chromosome [ 12 , 21 ].…”

“…It is characterized by epibulbar dermoids and cutis aplasia congenital [ 22 ]. Phenotypic expression is highly variable, and various other abnormalities have occasionally been reported, including growth failure, lymphedema, cardiovascular defects, neurodevelopmental symptoms, non-ossifying fibromas of the long bones, giant cell granulomas of the jaws, arachnoid cysts in the brain, seizure disorder, hyperpigmented nevi, and rhabdomyosarcoma [ 20 , 23 ].…”

Giant Cell Lesions of the Jaws Involving RASopathy Syndromes

“…OES was first described by Toriello et al in 1993 and is a very rare neurodevelopmental syndrome with less than 25 reported cases in the literature. All cases have occurred sporadically, and most patients have been diagnosed within the first few years of life ( 48 , 49 , 96 - 102 ). Recent studies have shown that postzygotic KRAS mutations cause OES ( 49 - 103 ).…”

“…Two other syndromes, encephalocraniocutaneous lipomatosis (ECCL) and Schimmelpenning syndrome, share clinical features with OES, and are also classified as mosaic RASopathies. Some authors consider OES as a mild version of ECCL due to their overlapping phenotype, with the only difference being the presence of intracranial lipomas, which is characteristic of ECCL ( 100 - 102 ).…”