Identification of c.104T>G, p.Met35Arg (NM_00314.8) variant in heterozygosity in exon 2 of the PTEN gene as the Causative Factor for Cowden Syndrome: A Medical Case Study.

Autores de IIS La Fe

• Miguel Mansilla Polo

  Autor

• Begoña Escutia Muñoz

  Autor

• 

  Rafael Botella Estrada

  Autor

Participantes ajenos a IIS La Fe

• Llavador-Ros, Margarita

Grupos

• Dermatología y Regeneración Tisular

Abstract

Cowden syndrome (CS) is a genodermatosis caused by autosomal dominant pattern mutations in the tumor suppressor gene PTEN. It is part of the PTEN spectrum, which includes Bannayan-Riley-Ruvalcaba syndrome, Lhermitte-Duclos syndrome, and SOLAMEN syndrome (Segmental Overgrowth, Lipomatosis, Arteriovenous Malformation and Epidermal Nevus). Identical mutations can lead to different clinical presentations within the same family. Phenotypically, CS is characterized by cutaneous lesions such as trichilemmomas, intraoral papillomatosis, and acral keratosis, among others. It is essential to recognize its association with internal tumors, including those of the thyroid, breast, endometrium, and colorectum. In addition to symptomatic treatment, sirolimus has emerged as a potential therapeutic option in recent years. We present a characteristic clinical case of CS, highlighting its etiopathogenic, clinical, and therapeutic aspects. Early recognition of CS is crucial for every dermatologist. Cutaneous lesions are often the first diagnostic sign and allow for diagnosis before the appearance of internal neoplasms.

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