Title : Exploring the clinical spectra of cockayne syndrome in India in two sisters
Abstract:
Photosensitive genodermatoses encompass a collection of disorders characterized by photosensitivity, short stature, systemic manifestations and an increased risk of malignancy. These disorders include Cockayne syndrome (CS), Rothmund-Thomson syndrome and Xeroderma pigmentosum, among others. CS, is an autosomal recessive disorder resulting from a deficiency in DNA repair mechanisms, specifically the repair of damaged DNA. CS affects both males and females equally. CS affects both males and females equally. In 1946, the British pediatrician Cockayne first described CS as a condition characterized by significant growth impairment, accompanied by optic nerve atrophy and hearing loss.We present a case of a 10-year-old girl presented with a photosensitive rash on her face ,low intellectual ability and exhibited short stature. Additionally, her younger sister, displayed similar features. Clinical and laboratory investigations indicated a diagnosis of CS. Early detection and differentiation of this syndrome from other congenital disorders are crucial due to distinct prognoses associated with each condition. Cockayne syndrome has to be differentiated from other conditions having similar clinical features. My case report also helps improving diagnosis and early intervention: By studying Cockayne syndrome, researchers can identify specific clinical features that aid in early diagnosis. Early intervention and management strategies can then be implemented to provide better care and support for affected individuals.It also helps enhancing quality of life: Research aims to identify ways to mitigate symptoms and improve the quality of life for individuals with Cockayne syndrome. This includes developing interventions to address neurological, sensory, and developmental challenges associated with the condition. Research on Cockayne syndrome provides valuable information and resources for affected individuals and their families. It helps raise awareness, connect families with support networks, and facilitate access to medical care and specialized services.
