Adenoma sebaceum

Adenoma sebaceum

Adenoma sebaceum is a misnomer historically used to describe a type of skin lesion associated with tuberous sclerosis complex (TSC). These lesions are now more accurately referred to as facial angiofibromas. They are benign growths that typically appear on the face and are characterized by small, reddish papules.

Pathophysiology

Adenoma sebaceum, or facial angiofibromas, are caused by mutations in the TSC1 or TSC2 genes, which lead to the development of tuberous sclerosis complex. These genes are responsible for regulating cell growth and proliferation. Mutations result in the formation of benign tumors in multiple organs, including the skin.

Clinical Presentation

Facial angiofibromas typically present as multiple, small, red or flesh-colored papules on the face, particularly on the nose and cheeks. They usually begin to appear in childhood and can increase in number and size over time. These lesions are often one of the first signs of tuberous sclerosis complex.

Diagnosis

The diagnosis of adenoma sebaceum is primarily clinical, based on the characteristic appearance of the lesions. However, a definitive diagnosis of tuberous sclerosis complex may require genetic testing and imaging studies to identify other manifestations of the disease, such as cortical tubers or renal angiomyolipomas.

Treatment

Treatment of facial angiofibromas may involve laser therapy, such as carbon dioxide laser or pulsed dye laser, to reduce the appearance of the lesions. Topical treatments, such as sirolimus cream, have also been used to manage these lesions by inhibiting the mTOR pathway, which is overactive in tuberous sclerosis complex.

Prognosis

While adenoma sebaceum itself is benign, its presence is indicative of tuberous sclerosis complex, a condition that can have significant implications for the patient's health. Management of TSC requires a multidisciplinary approach to address the various manifestations of the disease.

Related pages

• Tuberous sclerosis complex
• Facial angiofibroma
• Genetic disorders
• Benign tumor

Gallery

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  Wax moulage, side view of a child’s face showing ‘adenoma sebaceum’