Publication:

A case report of cockayne syndrome- five cases in a single family

Photosensitive genodermatoses are a group of disorders presenting with photosensitivity, short stature, systemic manifestations and susceptibility to malignancy these include cockayne syndrome (CS), rothmund– thomson syndrome, Trichothiodystrophy, Xeroderma pigmentosum etc. CS is a rare disorder characterized by the presence of three cardinal signs growth retardation i.e. short stature, abnormal sensitivity to light (photosensitivity), prematurely aged appearance. A 12-year-old girl had photo sensitive rash over the face with short stature. Four of her cousins (two brothers and two sisters) also had similar features. Clinical and lab investigations were suggestive of CS. Early detection and differentiating the syndrome from other congenital disorder is essential as the prognosis of each disorder differs.