Case Report of Oculocerebrocutaneous (Delleman) syndrome and review of cutaneous features

Abstract

Oculocerebrocutaneous syndrome (OCCS) is a rare disorder with specific clinical presentation. It can be diagnosed clinically upon specific dermatological, neurological, and ophthalmological criterion. We present the case of a 5-week-old baby boy with OCCS syndrome, highlighting its dermatological manifestations and a review of skin features as well. The patient presented with a unilateral microphthalmia with orbital cysts, postauricular crescent-shaped skin defect, and pedunculated skin appendages with multiple focal hypoplastic skin lesions. Early diagnoses and long-term follow-up may improve the prognosis of such a rare disease.