Clinicopathological Profile of Childhood Onset Cutaneous Mastocytosis from a Tertiary Care Center in South India

Autor:	Dharshini Sathishkumar, Surya Mary Mathew, Lydia Mathew, Abyramy Balasundaram, Renu George, Meera Thomas, Poonkuzhali Balasubramanian
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	medicine.medical_specialty biology Cutaneous Mastocytosis business.industry Childhood mastocytosis Diffuse cutaneous mastocytosis mastocytoma tryptase Tryptase Mastocytoma Imatinib medicine.disease Dermatology c-KIT pediatric mastocytosis biology.protein medicine Urticaria pigmentosa Histopathology Original Article cutaneous mastocytosis Systemic mastocytosis business urticaria pigmentosa medicine.drug
Zdroj:	Indian Dermatology Online Journal
ISSN:	2249-5673 2229-5178
Popis:	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.
Databáze:	OpenAIRE
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