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Mucocutaneous Manifestations in Children with Thalassemia: An Observational Study
Ashna Kumar1, Masarat Jabeen2, Preeti Sharma3
1Department of Pediatrics, SMGS Hospital, Government Medical College, Jammu, Union Territory of Jammu and Kashmir, India; ashnakumar99@gmail.com.
Insights
Multi-transfused children with beta-thalassemia major frequently exhibit mucocutaneous manifestations. Early dermatologic evaluation is crucial for diagnosing these common skin and nail changes in thalassemia patients.
Area of Science:
- Hematology
- Dermatology
- Genetics
Background:
- Thalassemia syndromes are inherited blood disorders with diverse clinical presentations.
- Mucocutaneous manifestations in multi-transfused beta-thalassemia major are underreported.
- This study addresses the scarcity of literature on skin and nail findings in these patients.
Purpose of the Study:
- To describe the spectrum of mucocutaneous manifestations in children with beta-thalassemia major.
- To identify common dermatologic findings in a cohort of multi-transfused patients.
- To emphasize the importance of evaluating skin and nail health in thalassemia management.
Main Methods:
- A descriptive, observational, cross-sectional study design was employed.
- Sixty-eight children with thalassemia major undergoing blood transfusion were examined.
- A dermatologist performed detailed mucocutaneous examinations, including hair and nail assessments.
Main Results:
- All participants (100%) presented with at least one cutaneous manifestation.
- Common findings included hyperpigmented knuckles (60.2%), pallor (42.6%), and icterus (26.4%).
- Other observed manifestations were lusterless hair (20.5%), leukonychia striata (14.7%), and oral ulcers (10.2%).
Conclusions:
- Multi-transfused children with beta-thalassemia major commonly experience significant mucocutaneous manifestations.
- Hyperpigmentation, pallor, icterus, hair, and nail changes are prevalent.
- Routine dermatologic assessment is essential for early diagnosis and management of these conditions in thalassemia patients.
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.
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