Article citationsMore >>

Tenkir, A. and Teshome, S, Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report, BMC Opthalmology, 10. 28-30. 2010.

has been cited by the following article:

Article

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

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


American Journal of Medical Sciences and Medicine. 2015, Vol. 3 No. 4, 48-51
DOI: 10.12691/ajmsm-3-4-2
Copyright © 2015 Science and Education Publishing

Cite this paper:
Rajnish Raj, Anuradha Raj, 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.

Correspondence to: Rajnish  Raj, Department of Psychiatry, Government Medical College and Rajindra Hospital, Patiala, Punjab, India. Email: drrrajnish_raj@yahoo.com

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