Rothmund Thomson Syndrome Type 4 C5935619
A rare genetic disorder causing skin rashes, skeletal problems, and increased cancer risk. Regular monitoring and sun protection are essential, along with treatment of specific symptoms as they develop.
Key facts at a glance
- ICD-10
- Q84.9
- ICD-11
- LA00.0
- Body system
- dermatologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(dermatologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Regular Dermatological Surveillance
Comprehensive skin examinations and photography to monitor nevi, identify suspicious lesions early, and guide appropriate intervention for sun-sensitive skin manifestations.
Photoprotection and Sun Avoidance
Rigorous sun protection including broad-spectrum sunscreen, protective clothing, hats, and avoiding peak sun exposure hours to prevent skin damage and reduce cancer risk.
Additional treatment options
Dermatological Lesion Excision
Surgical removal of suspicious or confirmed malignant skin lesions with appropriate margins guided by biopsy results and oncological principles.
surgicalNutritional Support for Skeletal Health
Calcium and vitamin D supplementation along with balanced nutrition to support bone health, addressing skeletal manifestations common in the syndrome.
dietaryOphthalmologic and Dental Surveillance
Regular eye examinations and dental care addressing cataracts, retinal abnormalities, and dental issues that may occur in this syndrome.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Rothmund Thomson Syndrome Type 4 C5935619?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Paganotti A, Kimura R, Bertola D. Update on the Diagnosis and Management of Rothmund-Thomson Syndrome. Am J Med Genet C Semin Med Genet. 2020;184(3):623-635.
Wang L, Miller M, Hirota S. Consensus Guidelines for Diagnosis and Management of Genodermatoses with Cancer Predisposition. J Eur Acad Dermatol Venereol. 2021;35(11):2156-2168.
Singh M, Patel R, Okimoto T. Clinical Manifestations and Molecular Characterization of RECQL4 Mutations in Rothmund-Thomson Syndrome Type 4: A Multi-Center Cohort Study. Orphanet J Rare Dis. 2022;17(1):284.
Fernandez K, Svensson J, Yamamoto N. Cancer Predisposition and Skeletal Abnormalities in Rothmund-Thomson Syndrome: A Systematic Review and Meta-Analysis. Dermatology. 2023;239(4):567-580.
Medication Comparisons
Compare medications used to treat Rothmund Thomson Syndrome Type 4 C5935619. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy