eng Science and Education Publishing American Journal of Medical Sciences and Medicine 2327-6657 2015-09-16 3 4 48 51 10.12691/ajmsm-3-4-2 AJMSM2015342 article Rajnish Raj drrrajnish_raj@yahoo.com 1 Anuradha Raj 2 Rakesh Tilak Raj 3 Department of Psychiatry, Government Medical College and Rajindra Hospital, Patiala, Punjab, India Department of Ophthalmology, Swami Ram Institute of Medical Sciences and University, Dehradun, Uttrakhand, India Department of Dermatology, Government Medical College and Rajindra Hospital, Patiala, Punjab, India Background: Goltz syndrome is a rare X-linked genetic syndrome of PORCN gene abnormality. It occurs predominantly in females while showing lethality for males. Most of the cases reported in the literature are bilateral with developmental defects in skin, skeletal, dentition, ocular and soft tissue. Case Presentation: Ms. X, 18-year old unmarried short statured female presented with symptoms of mild intellectual disability and excoriation, ocular colobomas, skin lesions, malocclusion of dentition, syndactyly, facial asymmetry and low set ears. Conclusion: This case is reported due to its rarity and highlights the importance of the psychiatric evaluation in detecting mild intellectual disability along with excoriation (skin-picking) in a characteristic Goltz syndrome. http://pubs.sciepub.com/ajmsm/3/4/2/ajmsm-3-4-2.pdf goltz syndrome Yale Brown Obsessive Compulsive Scale (YBOCS) Diagnostic and Statistical manual of mental disorders (DSM-5) International Classification of diseases: Clinical Descriptions and Diagnostic Guidelines (ICD-10)