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Year : 2021  |  Volume : 25  |  Issue : 1  |  Page : 39-41

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

1 College of Medicine, Princess Nourah University, Riyadh, Saudi Arabia
2 College of Medicine, Al Majmaah University, Riyadh, Saudi Arabia
3 Department of Dermatology, College of Medicine, King Khalid University Hospital, Riyadh, Saudi Arabia

Correspondence Address:
Dr. Maha AlQusayer
11411 Airport Road, Riyadh
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jdds.jdds_25_20

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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.

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