The oculo-ectodermal syndrome (OES) is distinguished by the findings of aplasia cutis congenita, non-ossifying fibromas of the long bones, epibulbar dermoids, and areas of skin hyperpigmentation. A total of 15 cases of OES have been reported [Ardinger et al., 2007] since its description by Toriello et al. [1993]. Additional findings such as arachnoid cysts, giant cell granulomas of the jaw, craniofacial lipomas, and eyelid defects are seen in OES. The clinical features of OES overlap with encephalocraniocutaneous lipomatosis which is characterized by cutis aplasia and epibulbar dermoids as well as CNS lipomas and naevus psiliparus [Moog, 2009]. Other syndromes that have features in common with OES include: Adams-Oliver syndrome (aplasia cutis congenita), Goldenhar syndrome (epibulbar dermoids), and Jaffe-Campanacci syndrome (non-ossifying fibromas of the long bones).
The genetic etiology of oculo-ectodermal syndrome is unknown; all karyotypes reported thus far have been normal [Martin et al., 2007]. We report an additional case of oculo-ectodermal syndrome that demonstrates mosaicism for a de novo deletion at Xq12 found on comparative genomic hybridization.
The patient is a 5-year-old boy referred to Genetics Clinic for evaluation of both Jaffe-Campanacci syndrome and Goldenhar syndrome. He was the 3,720 g (75th centile) 48.2 cm long (10-25th centile) product of an uncomplicated full-term pregnancy to a 29-year-old G 3 P 2 SAb 1 mother. He was born by an unremarkable vaginal delivery. At birth, he was noted to have torticollis, scalp lesions, and ocular dermoids. The scalp lesions were described as resembling blisters. This led to a genetics consultation where he was diagnosed with Goldenhar syndrome.
During the first year of life he was noted to have a limb length discrepancy. Radiographs showed non-ossifying fibromas located at the bilateral humeri and left radius and ulna and the bilateral femora and left distal tibia and fibula. Based on this, a diagnosis of Jaffe-Campanacci syndrome was made. In early childhood, he underwent surgical repair of a left-sided inguinal hernia and undescended testicle, two sets of pressure equalization tubes, oral surgery for tooth extraction, the addition of caps and crowns for tooth decay. Shortly after birth he had a ''scalp cyst'' excision but the pathology from this is unknown. We have little additional