Department of Pathology, Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (APHP), Paris, France.
National Reference Centre for Genodermatosis and Rare Diseases of the Skin (MAGEC), Necker-Enfants Malades Hospital, APHP, Paris, France.
J Eur Acad Dermatol Venereol. 2019 Jul;33(7):1412-1420. doi: 10.1111/jdv.15568. Epub 2019 Apr 15.
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.
小儿皮肤伴有原发性免疫缺陷（PID）的肉芽肿是一种罕见的情况。其病理生理学尚不清楚，治疗具有挑战性。我们报告了 17 例小儿病例，并复习了文献。
使皮肤科医生和皮肤病理学家认识到皮肤肉芽肿在小儿 PID 中的诊断价值。
我们收集了我们登记的 17 例伴有皮肤肉芽肿和 PID 的患者的数据，并复习了文献中的 33 例病例。
在 50 例汇总病例中，15 例皮肤肉芽肿是 PID 的首发表现。病变表现为红棕色结节和浸润性溃疡斑块，主要位于面部和四肢。10%的病例观察到单一肢体硬皮病样浸润。相关 PID 为共济失调毛细血管扩张症（52%）、联合免疫缺陷（24%）、软骨毛发发育不全（6%）和其他亚型（18%）。肉芽肿主要为类肉瘤、结核样、栅栏状或不定型。在一些患者中，同一活检中发现了几种不同的组织病理学肉芽肿模式。一些肉芽肿与风疹病毒疫苗株的存在有关。
伴有 PID 的皮肤肉芽肿具有不同的临床表现。当面部或四肢出现鳞屑性、棕色病变时，应怀疑存在 PID。在单个患者中同时存在几种组织学亚型提示存在 PID。
