Goltz Syndrome with Mild Intellectual Disability and Excoriation (Skin-picking) - A Case Report

Rajnish Raj^1, , Anuradha Raj² and Rakesh Tilak Raj³

¹Department of Psychiatry, Government Medical College and Rajindra Hospital, Patiala, Punjab, India

²Department of Ophthalmology, Swami Ram Institute of Medical Sciences and University, Dehradun, Uttrakhand, India

³Department of Dermatology, Government Medical College and Rajindra Hospital, Patiala, Punjab, India

Cite this paper:
Rajnish Raj, Anuradha Raj and Rakesh Tilak Raj. Goltz Syndrome with Mild Intellectual Disability and Excoriation (Skin-picking) - A Case Report. American Journal of Medical Sciences and Medicine. 2015; 3(4):48-51. doi: 10.12691/ajmsm-3-4-2

Abstract

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.

Keywords:
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)

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