Background:
Mastocytosis is characterized by clonal proliferation of mast cells in various organs and can have isolated cutaneous or systemic involvement. Childhood-onset mastocytosis (COM) is usually cutaneous and regresses spontaneously, while adult-onset mastocytosis (AOM) is often persistent with systemic involvement. There is limited data on COM from India.
Objective:
To elucidate the clinicopathological profile of COM.
Methods:
We conducted a retrospective chart review of all the patients with histologically proven COM (≤16 years), presenting over 11 years (January 2009 to December 2019) to the Dermatology Department. We compiled the demographic data, clinical characteristics (morphology, extent, distribution), laboratory investigations, histopathology findings, imaging (ultrasound abdomen), c-KIT mutation results, where available, and other associated abnormalities, and grouped them according to the WHO classification for mastocytosis.
Results:
Among the 66 patients with COM (M: F–1.6:1), 89.4% had onset before 2 years of age. The subtypes were: maculopapular cutaneous mastocytosis (MPCM: 44, 66.7%); mastocytoma of the skin (MOS: 19, 28.8%); diffuse cutaneous mastocytosis (DCM: 2, 3%) and indolent systemic mastocytosis (ISM: 1, 1.5%). Blistering was observed in 29 (43.9%) and Darier sign was elicited in 47 (71.2%) patients. Serum tryptase was elevated in 9/21 (42.9%) patients, but none had systemic mastocytosis. Three patients had c-KIT mutations (two in exon 8 and one in exon 17). Most patients were managed symptomatically and the patient with ISM improved with imatinib.
Conclusion:
MPCM is the most common variant of COM and most patients had a disease onset before 2 years. Overall, COM had a good prognosis with rare systemic involvement, mitigating the need for extensive evaluation routinely in children.
HCQ group was borderline noninferior to that in the doxycycline group (78.57% vs 70.00%, P ¼ .052). During the study, 18 patients reported 31 adverse events, and the proportion of patients with adverse events was low and similar between the HCQ (28.5%) and doxycycline (33.3%) groups. The most common adverse events were dry skin (14.3%), dry eye (7.1%), and dizziness (7.1%) in HCQ group and dry skin (16.7%) and flatulence (10.0%) in doxycycline group. Only 1 patient in the doxycycline group discontinued treatment owing to a severe adverse event (thrombocytopenia). During the follow-up of 12 weeks, there were 4 cases of recurrence in the HCQ group and 3 in the doxycycline group. This study had some limitations, including the small sample size and the fact that some outcomes could not reach conclusive noninferior inference. To conclude, this preliminary study suggested that HCQ can produce improvement of rosacea. Considering the general safety of HCQ during pregnancy, it can be better promoted in female patients with rosacea. Our findings should be replicated in studies with larger populations.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.