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Abstract
Rothmund–Thomson syndrome (RTS) is characterized by a rash that begins in the first few months of life and eventually develops into poikiloderma. Associated symptoms are alterations in the teeth, sparse hair, thin eyebrows, lack of eyelashes, low stature, bone abnormalities, hematological illnesses, gastrointestinal disease, malnutrition, cataracts, and predisposition to cancer, principally to bone tumors and skin cancer. Diagnostic certitude is provided by a genetic study involving detection of pathogenic variants of the RECQL4 gene. We hereby present a familiar case of RTS in two siblings from a Portuguese family, both diagnosed with osteosarcoma. Genomic analysis (203 genes) of both tumors as well as germline analysis of the RECQL4 gene, thus confirming the syndrome in the family, have been performed. The relevance of clinical recognition of the hallmarks of the disease and thus early diagnosis with early intervention is highlighted.
Highlights
Rothmund–Thomson syndrome (RTS) is an autosomal-recessive genodermatosis with clinical symptoms that develop in early infancy
Patients who are at the highest risk of developing tumors are those with homozygous or compound heterozygous mutations at the RECQL4 gene, which belongs to the RecQ helicase family[5]
We describe the cases of two siblings with confirmed germline compound heterozygous RECQL4 mutations and with diagnoses of osteosarcoma
Summary
Rothmund–Thomson syndrome (RTS) is an autosomal-recessive genodermatosis with clinical symptoms that develop in early infancy. Symptoms include cutaneous alterations (typically, facial erythema and poikiloderma), hair loss, cataracts, growth delay, skeletal anomalies, premature aging, and an inherited predisposition to cancer (mainly pediatric osteosarcoma)[1,2,3,4,5]. Patients who are at the highest risk of developing tumors are those with homozygous or compound heterozygous mutations at the RECQL4 gene, which belongs to the RecQ helicase family[5]. We describe the cases of two siblings with confirmed germline compound heterozygous RECQL4 mutations and with diagnoses of osteosarcoma. The segregation of the mutations in the parents has been analyzed and genomic somatic analysis of both tumors performed
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