Heterochromia of the hair involves the presence of two distinctive colors of scalp hair in one individual. We report the case of a 4-year-old girl with reddish streaks of scalp hair, heterochromia of the eyelashes, and cutaneous hypopigmentation following the lines of Blaschko.
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Clinical Insights Into Waardenburg-Shah Syndrome: A Case Series and Literature Review.
Cureus
May 2024
Internal Medicine, Siddhartha Medical College, Vijayawada, IND.
Article Synopsis
- Waardenburg syndrome (WS) is a rare congenital disorder mainly inherited in an autosomal dominant manner, exhibiting incomplete penetrance and diverse clinical presentations within the same family.
- Key features include facial abnormalities, skin hypopigmentation, heterochromia iridis, and conductive deafness, with four distinct subtypes characterized by specific symptoms.
- Type 4, the rarest subtype associated with Hirschsprung disease, shows symptoms like white forelock and hearing loss, emphasizing the need for genetic counseling and awareness for proper diagnosis and management.
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August 2024
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Introduction: Mitogen-activated extracellular signal-regulated kinase (MEK) inhibitors are in use for several indications for adults and children. Cutaneous toxicities are among the most common adverse effects. We aimed to describe the spectrum of cutaneous adverse events, its frequency, and severity in a cohort of pediatric patients.
View Article and Find Full Text PDFZinc deficiency or genetic mutations?-A case report of hair heterochromia in the context of MC1R genetic mutations.
Australas J Dermatol
May 2024
Zhongnan Hospital of Wuhan University, Wuhan, Hubei, China.
Hair heterochromia may be caused by different mechanisms. At clinical work, we found a Chinese boy whose hair colour gradually turned to red. We record the diagnosis and treatment process and follow-up situation, finally find that altered hair colour phenotype is due to MC1R genetic mutations, rather than zinc deficiency.
View Article and Find Full Text PDFBlonde Hair Heterochromia Over a Background of Black Scalp Hair in an Indian Child.
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A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV.
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June 2023
Luoyang Maternal and Child Health Hospital, Luoyang, 471000, China.
Background: Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of sensorineural hearing loss and accumulated pigmentation in the skin, hair and iris. The syndrome is classified into four types (WS1, WS2, WS3, and WS4), each with different clinical phenotypes and underlying genetic causes. The aim of this study was to identify the pathogenic variant in a Chinese family with Waardenburg syndrome type IV.
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