Short answer · Medically reviewed summary · Last updated: 2026-05-08
Rothmund-Thomson syndrome (RTS) is classified under the ICD-10 code Q82.8 (Other specified congenital malformations of skin) and the ICD-9 code 757.39 (Other specified congenital anomalies of skin). These codes are used for administrative and diagnostic tracking of the condition, though they do not capture the systemic nature of Rothmund-Thomson syndrome. What is the clinical presentation of Rothmund-Thomson syndrome? Rothmund-Thomson syndrome is a rare genodermatosis characterized by poikiloderma—a combination of skin atrophy, telangiectasia, and pigmentary changes—which typically begins during infancy.
ICD10 code of Rothmund-Thomson Syndrome and ICD9 code
ICD-10 and ICD-9 codes for Rothmund-Thomson Syndrome, with classification details for clinicians, coders and patients.
Rothmund-Thomson syndrome (RTS) is classified under the ICD-10 code Q82.8 (Other specified congenital malformations of skin) and the ICD-9 code 757.39 (Other specified congenital anomalies of skin). These codes are used for administrative and diagnostic tracking of the condition, though they do not capture the systemic nature of Rothmund-Thomson syndrome.
What is the clinical presentation of Rothmund-Thomson syndrome?
Rothmund-Thomson syndrome is a rare genodermatosis characterized by poikiloderma—a combination of skin atrophy, telangiectasia, and pigmentary changes—which typically begins during infancy. Beyond skin involvement, individuals with Rothmund-Thomson syndrome often experience sparse hair, eyelashes, and eyebrows, as well as dental and skeletal abnormalities. A critical feature of Rothmund-Thomson syndrome is the significantly increased risk of developing osteosarcoma and skin cancers, necessitating lifelong surveillance.
Is Rothmund-Thomson syndrome hereditary?
Rothmund-Thomson syndrome is an autosomal recessive disorder. It is most commonly caused by mutations in the RECQL4 gene (Type II), though genetic heterogeneity exists. Because Rothmund-Thomson syndrome is hereditary, genetic counseling is essential for families planning to have children to understand the 25% recurrence risk for each sibling of an affected individual.
How is a diagnosis of Rothmund-Thomson syndrome confirmed?
Diagnosis is primarily clinical, based on the classic skin manifestations and growth retardation. However, molecular genetic testing is the gold standard for confirmation. Key diagnostic considerations include:
- Early-onset poikiloderma (usually appearing between 3 and 6 months of age).
- Skeletal abnormalities, such as radial ray defects or hypoplastic thumbs.
- Growth deficiency starting in the first year of life.
- Confirmed pathogenic variants in the RECQL4 gene.
Next steps
- Consult a clinical geneticist to discuss molecular testing and family screening.
- Establish a multidisciplinary care team, including a dermatologist, oncologist, and orthopedist, to monitor for complications associated with Rothmund-Thomson syndrome.
- Connect with others on DiseaseMaps.org to share experiences with the two community members currently documenting their journey with Rothmund-Thomson syndrome.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
References
- Orphanet: ORPHA791 (Rothmund-Thomson syndrome)
- NIH GARD: Genetic and Rare Diseases Information Center - Rothmund-Thomson syndrome
- OMIM: Entry 268400 (Rothmund-Thomson syndrome)
- PubMed: National Library of Medicine - Review of RECQL4-related disorders
