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

Authors

  • Pooja Kondadi Department of Dermatology, Venereology and Leprosy, Navodaya Medical College Hospital and Research Centre, Raichur, Karnataka, India
  • Siddalingappa Karjigi Department of Dermatology, Venereology and Leprosy, Navodaya Medical College Hospital and Research Centre, Raichur, Karnataka, India
  • Kallappa C. Herakal Department of Dermatology, Venereology and Leprosy, Navodaya Medical College Hospital and Research Centre, Raichur, Karnataka, India
  • Sreelekha Challagundla Department of Dermatology, Venereology and Leprosy, Navodaya Medical College Hospital and Research Centre, Raichur, Karnataka, India

DOI:

https://doi.org/10.18203/issn.2455-4529.IntJResDermatol20204571

Keywords:

Cockayne syndrome, Photosensitivity, Congenital disorder

Abstract

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.

Author Biographies

Pooja Kondadi, Department of Dermatology, Venereology and Leprosy, Navodaya Medical College Hospital and Research Centre, Raichur, Karnataka, India

Postgraduate Student

Department of DVL

Navodaya Medical College Hospital and Research Centre, Raichur

Karnataka, India.

Siddalingappa Karjigi, Department of Dermatology, Venereology and Leprosy, Navodaya Medical College Hospital and Research Centre, Raichur, Karnataka, India

Professor

Department of DVL

Navodaya Medical College Hospital and Research Centre, Raichur

Karnataka, India.

Kallappa C. Herakal, Department of Dermatology, Venereology and Leprosy, Navodaya Medical College Hospital and Research Centre, Raichur, Karnataka, India

Professor and Hod

Department of DVL

Navodaya Medical College Hospital and Research Centre, Raichur

Karnataka, India.

Sreelekha Challagundla, Department of Dermatology, Venereology and Leprosy, Navodaya Medical College Hospital and Research Centre, Raichur, Karnataka, India

Postgraduate Student

Department of DVL

Navodaya Medical College Hospital and Research Centre, Raichur

Karnataka, India.

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Published

2020-10-22