Tuberous Sclerosis: Identifying Facial Angiofibromas and Differentiating from Neurofibromatosis in Seizure Patients

Tuberous sclerosis (TS) is an autosomal dominant neurocutaneous syndrome characterized by the presence of multiple hamartomas in various organs, including the skin, brain, heart, kidneys, liver, and lungs. The identification of cutaneous signs is crucial for the early diagnosis of this condition, as these signs often appear first and can be easily recognized during a detailed physical examination. A dermatological evaluation is essential for both pediatric and adult patients to establish an accurate diagnosis of TS.

Delving into Detection and Differentiation

Facial angiofibromas are a classic cutaneous manifestation of tuberous sclerosis and are part of the classic triad along with seizures and intellectual disability. However, this complete triad is only present in 29% of patients, underscoring the importance of a thorough evaluation of cutaneous signs for diagnosis. Hypomelanotic macules, also known as "ash leaf spots," are another characteristic cutaneous sign that can vary in shape and size, and are essential for differentiating TS from other facomatosis such as neurofibromatosis [1].

The differentiation of tuberous sclerosis from other facomatosis is crucial, as conditions like neurofibromatosis type 1 may present similar cutaneous lesions, such as neurofibromas. However, the presence of periungual fibromas and fibrous plaques on the forehead are more indicative of TS. Additionally, genetic evaluation is a valuable tool for confirming the diagnosis, especially in cases where clinical manifestations are atypical or incomplete.

Conclusions

The accurate identification of cutaneous signs of tuberous sclerosis is essential for early diagnosis and appropriate management of the disease. Differentiating it from other facomatosis, such as neurofibromatosis, requires a detailed clinical evaluation and, in many cases, the support of genetic testing. Understanding the cutaneous manifestations and their correlation with other systemic features of TS can significantly improve the prognosis and quality of life for affected patients.

Referencias

• [1] The cutaneous manifestations of tuberous sclerosis complex.
• [2] Tuberous sclerosis complex: advances in diagnosis, genetics, and management.
• [3] Cutaneous "fibroma-like" perivascular epithelioid cell tumor: A case report and review of literature.
• [4] Diagnosis and Treatment of Tuberous Sclerosis Manifestations in Children: A Multicenter Study.

Created 13/1/2025