From the Guidelines
Adenoma sebaceum, more accurately referred to as facial angiofibromas, should be treated with topical rapamycin (sirolimus) at a 0.1% concentration applied once or twice daily to affected areas, as this has been shown to reduce the size and redness of lesions over several months, thereby improving quality of life for patients with tuberous sclerosis complex (TSC) 1.
Introduction to Adenoma Sebaceum
Adenoma sebaceum is a term often used to describe facial angiofibromas, which are benign fibrovascular tumors appearing as small, reddish-brown or flesh-colored bumps on the cheeks, nose, and chin. These lesions are most commonly associated with TSC, a genetic disorder characterized by the growth of benign tumors in multiple organs.
Pathogenesis and Clinical Features
The development of these angiofibromas is linked to mutations in the TSC1 or TSC2 genes, which normally function to suppress the mTOR pathway, regulating cell growth. Dysfunction in these genes leads to excessive cell proliferation and tumor formation in the skin and other organs. TSC is a complex condition with variable presentations, including neurological, developmental, and tumor-related manifestations.
Management and Treatment
Treatment options for facial angiofibromas include:
- Topical rapamycin (sirolimus) at 0.1% concentration, applied once or twice daily, which has been effective in reducing lesion size and redness.
- For more prominent lesions, laser therapy, electrodessication, or surgical removal may be considered.
- Early intervention is recommended as lesions tend to grow and become more numerous over time.
Surveillance and Monitoring
Given the association of adenoma sebaceum with TSC, patients should undergo regular monitoring for other manifestations of the disease, including:
- Renal manifestations such as angiomyolipomata and cystic disease, with abdominal ultrasound and renal MRI as recommended surveillance tools starting from diagnosis and continuing into adulthood 1.
- Neurological and developmental assessments, as TSC can cause significant morbidity due to epilepsy, developmental delay, and other neurological complications.
Quality of Life Considerations
The management of adenoma sebaceum and associated TSC manifestations should prioritize improving quality of life, reducing morbidity, and preventing mortality. This includes timely and appropriate treatment of skin lesions, surveillance for internal organ involvement, and multidisciplinary care to address the complex needs of patients with TSC.
From the Research
Definition and Characteristics of Adenoma Sebaceum
- Adenoma sebaceum, also known as angiofibromas, are benign tumors that occur in patients with tuberous sclerosis complex (TSC) 2, 3, 4, 5, 6
- These lesions are composed of blood vessels and fibrous tissue and appear on the face, typically on the central part, causing significant cosmetic and hygienic morbidity 2, 5
Treatment Options for Adenoma Sebaceum
- Various treatment options have been used to remove or improve the appearance of adenoma sebaceum, including:
- The choice of treatment depends on the individual patient's needs and the severity of the lesions
Efficacy and Safety of Treatment Options
- The copper vapor laser has been shown to be safe and effective for the treatment of adenoma sebaceum, with good to excellent cosmetic results and no scarring or hyperpigmentation 2
- Topical sirolimus has been found to be a promising and fairly well-tolerated treatment for facial angiofibromas, with significant improvement in redness and extension of the tumors 3
- Oral sirolimus has been shown to be an effective long-term therapy for TSC skin tumors, particularly angiofibromas, in patients for whom systemic treatment is indicated 6