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Rothmund–Thomson Syndrome with Predominant Cutaneous Features: A Rare Case Report of Two Male Siblings

Year: 2025

Type: article

Abstract: Rothmund–Thomson syndrome (RTS) is a rare genodermatosis with only 300 cases reported till date. It manifests a wide array of symptoms affecting skin and skin appendages. It is attributed to mutation of the RECQL4 helicase gene, located on chromosome 8q24.3. The RECQL4 protein is essential for the initiation of DNA replication and is necessary for the efficient removal of ultraviolet-induced DNA damage. Key features include early photosensitivity, poikilodermatous skin change, juvenile cataracts, skeletal dysplasias, predisposition to osteosarcoma, and skin cancers. Here, we present a rare case report of RTS in two male siblings with predominant cutaneous manifestations.

Source: Indian Journal of Paediatric Dermatology

DOI: 10.4103/ijpd.ijpd_5_24

Authors: Jyoti Budhwar, Guramrit Singh Mundi

Institution: Sri Guru Ram Das University of Health Sciences Sri Amritsar

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4411520064

FWCI:

Cites: 8

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Related to: 10