Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature.
Abnormalities, Multiple
/ diagnosis
Ataxia Telangiectasia
/ etiology
Child
Child, Preschool
Female
Granuloma
/ complications
Heart Defects, Congenital
/ complications
Humans
Hydrocolpos
/ complications
Infant
Male
Polydactyly
/ complications
Primary Immunodeficiency Diseases
/ complications
Severe Combined Immunodeficiency
/ complications
Skin Diseases
/ complications
Skin Ulcer
/ etiology
Uterine Diseases
/ complications
Journal
Journal of the European Academy of Dermatology and Venereology : JEADV
ISSN: 1468-3083
Titre abrégé: J Eur Acad Dermatol Venereol
Pays: England
ID NLM: 9216037
Informations de publication
Date de publication:
Jul 2019
Jul 2019
Historique:
received:
17
08
2018
accepted:
29
01
2019
pubmed:
15
3
2019
medline:
16
1
2020
entrez:
15
3
2019
Statut:
ppublish
Résumé
Paediatric cutaneous granuloma with primary immunodeficiency (PID) is a rare condition. The physiopathology is unclear, and treatment is challenging. We report on 17 paediatric cases and review the literature. To make dermatologists and dermatopathologists aware of the diagnostic value of skin granulomas in paediatric PID. We collected data on 17 patients with cutaneous granulomas and PID registered with us and also reviewed 33 cases from the literature. 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. 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 histological subtypes in a single patient is suggestive of a PID.
Sections du résumé
BACKGROUND
BACKGROUND
Paediatric cutaneous granuloma with primary immunodeficiency (PID) is a rare condition. The physiopathology is unclear, and treatment is challenging. We report on 17 paediatric cases and review the literature.
OBJECTIVES
OBJECTIVE
To make dermatologists and dermatopathologists aware of the diagnostic value of skin granulomas in paediatric PID.
METHODS
METHODS
We collected data on 17 patients with cutaneous granulomas and PID registered with us and also reviewed 33 cases from the literature.
RESULTS
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
CONCLUSIONS
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 histological subtypes in a single patient is suggestive of a PID.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1412-1420Informations de copyright
© 2019 European Academy of Dermatology and Venereology.