Cutaneous granulomas in a child with Ataxia telangiectasia - A rare association

Authors

  • Shruti Dewang Department of Dermatology, Venereology and Leprosy, Care Institute of Medical Sciences, Hyderabad, Telangana, India
  • Praneet Awake Department of Dermatology, Venereology and Leprosy, Symbiosis Medical College for Women, Symbiosis International University, Pune, Maharashtra, India
  • P.L. Chandravathi Department of Dermatology, Venereology and Leprosy, Care Institute of Medical Sciences, Hyderabad, Telangana, India
  • Vijaya Tourani Department of Pathology, Care Institute of Medical Sciences, Hyderabad, Telangana, India

Keywords:

Ataxia-telangiectasia, cutaneous granulomas, immune dysregulation

Abstract

Ataxia-telangiectasia (AT) is an autosomal recessive disorder due to defective DNA damage repair. It is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias and immune system dysregulation resulting in recurrent and progressive sino-pulmonary infections. We present a case of a 4 year old male child with delayed motor development and recurrent sino-pulmonary infections and complaints of multiple asymptomatic plaques over knees and nodules over elbows since 3 years. On investigations and genetic testing he was diagnosed as a case of AT. Biopsy of the lesion over knees showed non- infectious granulomas. We report the case owing to rarity of association of non-infectious cutaneous granuloma with AT. 

Author Biographies

Shruti Dewang, Department of Dermatology, Venereology and Leprosy, Care Institute of Medical Sciences, Hyderabad, Telangana, India

Department of Dermatology, Venereology and Leprosy, Care Institute of Medical Sciences, Hyderabad, Telangana, India

Praneet Awake, Department of Dermatology, Venereology and Leprosy, Symbiosis Medical College for Women, Symbiosis International University, Pune, Maharashtra, India

Department of Dermatology, Venereology and Leprosy, Symbiosis Medical College for Women,Symbiosis International University, Pune, Maharashtra, India

P.L. Chandravathi, Department of Dermatology, Venereology and Leprosy, Care Institute of Medical Sciences, Hyderabad, Telangana, India

HOD of Department of Dermatology, Venereology and Leprosy, Care Institute of Medical Sciences, Hyderabad, Telangana, India

Vijaya Tourani, Department of Pathology, Care Institute of Medical Sciences, Hyderabad, Telangana, India

HOD of Department of Pathology, Care Institute of Medical Sciences, Hyderabad, Telangana, India

References

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Published

2020-10-01

How to Cite

1.
Dewang S, Awake P, Chandravathi P, Tourani V. Cutaneous granulomas in a child with Ataxia telangiectasia - A rare association. J Pak Assoc Dermatol [Internet]. 2020Oct.1 [cited 2025Jan.20];30(3):511-5. Available from: https://jpad.com.pk/index.php/jpad/article/view/1432

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Section

Case Reports