Goltz Syndrome with Mild Intellectual Disability and Excoriation (Skin-picking) - A Case Report
نویسندگان
چکیده
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.
منابع مشابه
Improvement in Excoriation (Skin-Picking) with use of Risperidone in a Patient with Developmental Disability
Patients with Autism Spectrum Disorder present with a heterogeneous mix of features beyond the core symptoms of the disorder. These features can be emotional, cognitive or behavioral. Behavioral symptoms often include self-injury, and this may take the form of repetitive skin-picking. The prevalence of skin-picking disorder in Autism is unknown. Skin-picking may lead to significant medical and ...
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