Rothmund–Thomson syndrome

Rothmund–Thomson syndrome is a rare inherited disorder that often causes early-childhood poikiloderma, sparse hair, short stature, skeletal abnormalities, and increased cancer risk.

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RECQL4: RECQL4 is a gene encoding a DNA helicase involved in DNA replication and genome maintenance. Pathogenic variants in RECQL4 cause most cases and are associated with skeletal abnormalities and cancer susceptibility.
Poikiloderma: Poikiloderma is a skin pattern combining pigmentation changes, visible small blood vessels, and skin thinning. It is the characteristic early feature that gives the syndrome its distinctive appearance.
Clinical diagnosis: Clinical diagnosis identifies a disease by evaluating signs, symptoms, history, and examination findings. The characteristic skin pattern and associated features can prompt suspicion before genetic testing.
Baller–Gerold syndrome: Baller–Gerold syndrome is a rare inherited disorder characterized by craniosynostosis and radial-ray abnormalities. It can involve RECQL4 variants, but craniosynostosis and limb defects distinguish its typical presentation.
August von Rothmund: August von Rothmund was a German ophthalmologist who described the childhood disorder later named Rothmund–Thomson syndrome. His nineteenth-century report connected early skin changes with later eye abnormalities.
ANAPC1: ANAPC1 is a gene encoding a subunit of the anaphase-promoting complex, which regulates cell-cycle progression. Biallelic ANAPC1 variants cause a form of the syndrome without the typical RECQL4-related cancer risk.
Photosensitivity: Photosensitivity is an abnormal skin response to sunlight or other ultraviolet radiation. Sun-exposed skin is commonly affected as the characteristic poikiloderma develops.
Genetic testing: Genetic testing analyzes DNA to identify variants associated with inherited conditions. Testing RECQL4 and ANAPC1 can confirm the diagnosis and distinguish genetic forms.
RAPADILINO syndrome: RAPADILINO syndrome is a rare RECQL4-related disorder marked by skeletal abnormalities, growth problems, and distinctive congenital features. It shares a genetic cause with some cases but lacks Rothmund–Thomson syndrome’s defining poikiloderma.
Matthew Sydney Thomson: Matthew Sydney Thomson was a British physician who reported additional cases of the disorder now bearing his name. His account helped establish the syndrome as a distinct clinical condition.