Mucocutaneous Manifestations in Children with Thalassemia: An Observational Study.

Abstract

Thalassemia syndromes are a group of autosomal, recessively inherited, single-gene hemoglobinopathies with varied mucocutaneous manifestations. There is, however, a scarcity of these findings in the literature. This descriptive observational cross-sectional study was conducted to describe mucocutaneous manifestations in multi-transfused beta-thalassemia major children. The study comprised 68 thalassemia major children attending the thalassemia unit for blood transfusion at a tertiary care hospital in North India. A dermatologist conducted a detailed examination to look into the presence of any mucocutaneous manifestations, including disorders of the hair and nails. The age range of enrolled thalassemic children was 6 months-19 years, with an average age of 10.5 years; the boy versus girl ratio was 1.72:1. All enrolled children had at least one cutaneous manifestation. Common dermatologic manifestations observed in these patients included hyperpigmentation of the knuckles (60.2%), moderate pallor (42.6%), icterus (26.4%), lusterless hair (20.5%), leukonychia striata or horizontal white streaks on the nails (14.7%), and oral ulcers (10.2%). A careful evaluation of mucocutaneous manifestations, including disorders of the hair and nails, is required in multi-transfused thalassemic children to provide an early diagnosis of dermatologic manifestations.