Cutaneous granulomas in a child with Ataxia telangiectasia - A rare association
Keywords:
Ataxia-telangiectasia, cutaneous granulomas, immune dysregulationAbstract
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.References
Paller AS, Massey RB, Curtis MA et al. Cutaneous granulomatous lesions in patients with ataxia-telangiectasia. J Pediatr 1991;119: 917–922.
Sharma A, Buxi G, Yadav R, Kohli A. Ataxia telangiectasia: A report of two cousins and review of literature. Indian J Med Paediatr Oncol [serial online] 2011; 32: 217-22
Privette ED, Ram G, Treat JR, Yan AC, Heimall JR. Healing of granulomatous skin changes in ataxia-telangiectasia after treatment with intravenous immunoglobulin and topical mometasone 0.1% ointment. Pediatr Dermatol 2014; 31(6):703-707.
Reed WB, Epstein WL, Boder E, Sedgewick R. Cutaneous manifestations of ataxia-telangiectasia. JAMA 1966; 195: 746- 53.
Cohen LE, Tanner D J, Schaefer HG, et al. Common and uncommon cutaneous findings in patients with ataxia-telangiectasia. J Am Acad Dermatol 1984;10:431-8.
Griffiths C, Barker J, Bleiker T, Chalmers R, Creamer D. Rook`s textbook of Dermatology. 9th edition, United Kingdom, Wiley – Blackwell publishing house.2016;78.11
Weedon D. Weedon’s skin pathology, 2nd ed. London: Churchill Livingstone,2002.
Chiam LY, Verhagen MM, Haraldsson A et al. Cutaneous granulomas in ataxia telangiectasia and other primary immunodeficiencies: reflection of inappropriate immune regulation? Dermatology 2011;223:13–19.
Folgori L, Scarselli A, Angelino G et al. Cutaneous granulomatosis and combined immunodeficiency revealing ataxia-telangiectasia: a case report. Ital J Pediatr 2010;36:29.
Mitra A, Gooi J, Darling J et al. Infliximab in the treatment of a child with cutaneous granulomas associated with ataxia telangiectasia. J Am Acad Dermatol 2011;65:676–677.
Lin JH, Liebhaber M, Roberts RL et al. Etanercept treatment of cutaneous granulomas in common variable immunodeficiency. J Allergy Clin Immunol 2006;117: 878–882.
