Keloids in Rubinstein-Taybi syndrome: a clinical study

Area of Science:

• Genetics and rare diseases
• Dermatology
• Clinical research

Background:

• Rubinstein-Taybi syndrome (RSTS) is a genetic disorder characterized by intellectual disability and multiple congenital anomalies.
• Keloid formation, a condition of excessive fibrous tissue growth in response to skin injury, is a noted complication in RSTS patients.

Purpose of the Study:

• To delineate the clinical presentation of keloids in individuals diagnosed with Rubinstein-Taybi syndrome.
• To consolidate findings from existing literature and a cohort of evaluated RSTS patients.

Main Methods:

• A comprehensive literature search was conducted to identify studies reporting RSTS patients with keloids.
• Questionnaires were administered to RSTS patients in the Netherlands, followed by personal evaluations for those with suspected keloids.
• Patients with RSTS from the UK were also personally evaluated for keloid characteristics.

Main Results:

• Data from 83 Dutch RSTS patients revealed 15 (24%) had keloids, with 12 additional cases from the UK.
• The majority of affected individuals presented with multiple keloids (82%), with onset typically around 11.9 years.
• Keloids were predominantly located on the shoulders and chest, with reported itching and generally unsatisfactory treatment outcomes.

Conclusions:

• Keloids manifest in 24% of RSTS patients, appearing spontaneously or post-trauma, often beginning in puberty.
• Current management strategies for RSTS-associated keloids yield disappointing results.
• RSTS, a Mendelian disorder with a known genetic basis, provides a valuable model for studying keloid pathogenesis and developing novel treatments.