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Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii
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5/2020
vol. 37
 
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abstract:
Original paper

Cutaneous and systemic granulomatosis in ataxia-telangiectasia: a clinico-pathological study

Aleksandra Szczawińka-Popłonyk
1
,
Katarzyna Olejniczak
1
,
Katarzyna Tąpolska-Jóźwiak
1
,
Maciej Boruczkowski
2
,
Katarzyna Jończyk-Potoczna
3
,
Jadwiga Małdyk
4
,
Anna Bręborowicz
1

  1. Department of Paediatric Pneumonology, Allergology and Clinical Immunology, Poznan University of Medical Sciences, Poznan, Poland
  2. Department of Immunology, Poznan University of Medical Sciences, Poznan, Poland
  3. Department of Paediatric Radiology, Poznan University of Medical Sciences, Poznan, Poland
  4. Department of Pathology, Medical University of Warsaw, Warsaw, Poland
Adv Dermatol Allergol 2020; XXXVII (5): 760-765
DOI: https://doi.org/10.5114/ada.2020.100485
Online publish date: 2020/11/07
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Introduction
The development of granulomas is a well-recognized manifestation of immunodeficiency in ataxia-telangiectasia (A-T), resulting from lymphocyte developmental abnormalities, impaired immunosurveillance, and inappropriate innate immune response-driven inflammation.

Aim
To better understand pathological and immunological phenomena involved in development of cutaneous and visceral granulomatosis observable in patients with ataxia-telangiectasia.

Material and methods
We retrospectively reviewed medical records of eight A-T children, aged from 2 to 13 years, with regard to clinical, immunological and histopathological features of cutaneous and visceral granulomatosis.

Results
In four out of eight A-T patients studied, cutaneous granulomas clinically presented as skin nodules and ulcerated erythematous plaques disseminated on the face, and on trauma-prone areas of upper and lower extremities. Visceral granulomatosis had a severe clinical course and involved the lungs, the spleen, the liver and the larynx. Histologically, cutaneous and laryngeal granulomas showed extensive cellular infiltrations containing T lymphocytes with predominating CD8+ phenotype and with CD68+ histiocytes. The immunological profile with the hyper-IgM phenotype, markedly reduced numbers of B and naive CD4+ and CD8+ T cells with predominating IgM-only memory B cells and skewed repertoire of a T cell receptor was observable in patients with skin and visceral granulomatosis.

Conclusions
In the setting of combined immunodeficiency in A-T, cutaneous and systemic granulomatosis reflects a granulomatous reaction pattern, as a result of inappropriate immune regulation.

keywords:

ataxia-telangiectasia, immunodeficiency, granuloma, children, lymphopenia
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