C. Méni

Paediatric mastocytosis: a systematic review of 1747 cases

Paediatric mastocytosis was previously considered to be a benign and spontaneously regressing disease. However, this evolution is impossible to predict. To clarify the characteristics and course of paediatric mastocytosis, we performed a literature review of 1747 cases published between 1950 and April 2014. Lesions occurred before the age of 2 years in 90% of cases, and presented as urticaria pigmentosa (75% of cases), mastocytoma (20%) or diffuse cutaneous mastocytosis (5%). The male‐to‐female ratio was 1·4. KIT D816V mutation was detected in 34% of 215 tested patients. Clinical regression (complete or partial) occurred in 67% of cases and stabilization in 27%. However, the outcome was fatal in 2·9% of patients.

Atopic dermatitis burden scale: creation of a specific burden questionnaire for families

The notion of individual burden, associated with a disease, has been introduced to determine the ‘disability’ in the broadest sense (psychological, social, economic and physical). Atopic dermatitis (AD) is one of the most common chronic inflammatory skin diseases with an estimated prevalence of 5%–30% in children.

小儿肥大细胞增多症:一项为期 12 年的随访队列研究

这项来自法国巴黎的研究追踪了 53 名患有肥大细胞增多症的儿童。在肥大细胞增多症中,体内肥大细胞(最为人所知的是它们在过敏中的作用)的数量增加,特别是在皮肤中。在儿童亚型中,肥大细胞数通常仅在皮肤中增加,并且通常认为该状况在青春期前后改善。症状包括瘙痒、皮肤肿胀和水疱,但偶尔情况下,如果大量化学信使从大量肥大细胞中释放出来,会出现全身(“系统”)症状,如潮红、腹痛、腹泻和头痛。大多数儿童都有所改善,特别是如果他们患有肥大细胞增多症超过 12 年或已达到 16 岁;6 名儿童病情恶化,只有 3 个儿童的肥大细胞增多症完全从皮肤中清除。在 11 名儿童中,这种疾病在两岁后开始,这是预测随着时间推移会发生什么的唯一因素:该组的结果更糟。全身症状趋于改善,尽管它们仅在五个孩子中完全消退,并且即使皮肤改变改善也经常持续存在。3 例病例继续发展为更广泛的肥大细胞增多症,其中一例累及骨,第二例累及骨和肝脏,第三例累及肠道。46 名儿童表现出一种名为 KIT 的基因突变,已知这种基因与肥大细胞增多症有关,但这与肥大细胞增多症的类型、或者肥大细胞增多症是否改善、持续或恶化并没有关系。

Paediatric mastocytosis: long-term follow-up of 53 patients with whole sequencing of KIT. A prospective study

Mastocytosis is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells. The adult and paediatric forms differ in their clinical and genetic features and outcomes.