An Atypical Presentation of Dyskeratosis Congenita in a Child With a Familial RTEL1 Mutation DOI
Faiza Ahmed,

Kristina Blegen,

Michelle Tarbox

и другие.

Pediatric Dermatology, Год журнала: 2024, Номер unknown

Опубликована: Сен. 18, 2024

ABSTRACT Dyskeratosis congenita (DC) is a rare inherited bone marrow disease that classically presents with the triad of oral leukoplakia, nail dystrophy, and reticular hyperpigmentation. It most commonly caused by defect in DKC1 gene involved telomere stability. Malignant progression leukoplakia to squamous cell carcinoma (SCC) DC, especially younger patients, cutaneous SCC only reported 1.5% cases DC. Here we report case 12‐year‐old female familial heterozygous RTEL1 (regulator elongation helicase 1) mutation associated severe phenotype DC characterized multiple SCCs.

Язык: Английский

An Atypical Presentation of Dyskeratosis Congenita in a Child With a Familial RTEL1 Mutation DOI
Faiza Ahmed,

Kristina Blegen,

Michelle Tarbox

и другие.

Pediatric Dermatology, Год журнала: 2024, Номер unknown

Опубликована: Сен. 18, 2024

ABSTRACT Dyskeratosis congenita (DC) is a rare inherited bone marrow disease that classically presents with the triad of oral leukoplakia, nail dystrophy, and reticular hyperpigmentation. It most commonly caused by defect in DKC1 gene involved telomere stability. Malignant progression leukoplakia to squamous cell carcinoma (SCC) DC, especially younger patients, cutaneous SCC only reported 1.5% cases DC. Here we report case 12‐year‐old female familial heterozygous RTEL1 (regulator elongation helicase 1) mutation associated severe phenotype DC characterized multiple SCCs.

Язык: Английский

Процитировано

0