Abstract
Background Oculofaciocardiodental (OFCD) syndrome is due to mutations in BCOR (BCL-6 corepressor). OFCD has phenotypic overlaps with PHACE syndrome (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac defects, Eye anomalies). Infantile hemangiomas are a key diagnostic criterion for PHACE, but not for OFCD. A previous study reported two cases of infantile hemangiomas in OFCD, but the authors could not exclude chance association. Case Presentation We describe two novel cases of female patients (one initially diagnosed with PHACE syndrome), both of whom had infantile hemangiomas. Ophthalmological findings were consistent with oculofaciocardiodental (OFCD) syndrome. Upon genetic testing, these two females were determined to have X-linked BCOR mutations confirming OFCD syndrome diagnoses. Conclusion These case reports add support to the hypothesis that infantile hemangiomas may be a feature of OFCD. BCOR may potentially be within a pathway of genes involved in PHACE syndrome and/or in infantile hemangioma formation.
Highlights
Oculofaciocardiodental (OFCD) syndrome and Lenz microphthalmia due to mutation in BCL-6 corepressor OFCD (BCOR) (BCL-6 corepressor) are allelic, X-linked, multiple congenital anomaly disorders that exhibit sex-dependent, variable expressivity [1]
Infantile hemangiomas have not been labeled as a key characteristic of OFCD or other BCOR-related disorders
It may be informative to request and review photographs documenting the evolution of the vascular lesion, noting that early rapid growth is the key characteristic that differentiates an infantile hemangioma from other vascular birthmarks [11]
Summary
Oculofaciocardiodental (OFCD) syndrome and Lenz microphthalmia due to mutation in BCOR (BCL-6 corepressor) are allelic, X-linked, multiple congenital anomaly disorders that exhibit sex-dependent, variable expressivity [1]. Specific hypomorphic mutations (typically c.254C>T; p.Pro85Leu) present as Lenz microphthalmia syndrome, a classic X-linked recessive neurodevelopmental and multiple congenital anomaly disorder affecting males only, with female carriers having no known phenotypic manifestation [2]. We describe two novel cases of female patients (one initially diagnosed with PHACE syndrome), both of whom had infantile hemangiomas. Ophthalmological findings were consistent with oculofaciocardiodental (OFCD) syndrome Upon genetic testing, these two females were determined to have X-linked BCOR mutations confirming OFCD syndrome diagnoses. BCOR may potentially be within a pathway of genes involved in PHACE syndrome and/or in infantile hemangioma formation
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