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J Eur Acad Dermatol Venereol. 2019 Mar 14. doi: 10.1111/jdv.15568. [Epub ahead of print]

Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature.

Author information

1
Department of Pathology, Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (APHP), Paris, France.
2
National Reference Centre for Genodermatosis and Rare Diseases of the Skin (MAGEC), Necker-Enfants Malades Hospital, APHP, Paris, France.
3
Department of Dermatology, Necker-Enfants Malades Hospital, APHP, Paris, France.
4
Department of Immunohematology, Necker-Enfants Malades Hospital, APHP, Paris, France.
5
Imagine Institute, Inserm U 1163, Descartes University, Paris Sorbonne Cité, France.
6
National Reference Centre for Primary Immune Deficiency (CEREDIH), Necker-Enfants Malades Hospital, APHP, Paris, France.
7
Department of Dermatology, UNAM University, Angers University Hospital, Angers, France.
8
Departments of Pediatric Hematology, UNAM University, Angers University Hospital, Angers, France.
9
Study center of primary immunodeficiency, Necker-Enfants Malades Hospital, APHP, Paris, France.
10
Collège de France, Paris, France.
11
Institut Pasteur, Biology of Infection Unit, Inserm U1117 Laboratory of Pathogen Discovery, 28 rue du Docteur Roux, F-75724, Paris, France.
12
Ecole Nationale Vétérinaire d'Alfort Virologie, 7 avenue Général de Gaulle, F-94704, Maisons Alfort, France.

Abstract

BACKGROUND:

Pediatric cutaneous granulomas with primary immunodeficiency (PID) is a rare condition. The physiopathology is unclear, and treatment is challenging. We report on 17 pediatric cases and review the literature.

OBJECTIVES:

To make dermatologists and dermatopathologists aware of the diagnostic value of skin granulomas in pediatric PID.

METHODS:

We collected data on 17 patients with cutaneous granulomas and PID registered with us, and also reviewed 33 cases from the literature.

RESULTS:

Cutaneous granuloma was the presenting feature of the PID in 15 of the 50 collated cases. The lesions presented as red-brownish nodules and infiltrated ulcerative plaques, predominantly on the face and limbs. Scleroderma-like infiltration on a single limb was observed in 10% of the cases. The associated PID was ataxia-telangiectasia (52%), combined immunodeficiency (24%), cartilage-hair hypoplasia (6%), and other subtypes (18%). The granulomas were mostly sarcoidal, tuberculoid, palisaded or undefined subtypes. In some patients, several different histopathologic granulomatous patterns were found in the same biopsy. Some granulomas were associated with the presence of a vaccine strain of rubella virus.

CONCLUSION:

Cutaneous granulomas associated with a PID have a variable clinical presentation. A PID can be suspected when crusty, brownish lesions are found on the face or limbs. The concomitant presence of several histologic subtypes in a single patient is suggestive of a PID. This article is protected by copyright. All rights reserved.

KEYWORDS:

cutaneous granuloma; pediatric dermatology; primary immunodeficiency

PMID:
30869812
DOI:
10.1111/jdv.15568

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