CLOVES syndrome in a six-month-old infant: The importance of cutaneous findings
| Autor: | Francisca Alves, Francisca Morgado, Sergio Sousa, Leonor Ramos |
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| Jazyk: | English<br />Portuguese |
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Revista da Sociedade Portuguesa de Dermatologia e Venereologia, Vol 80, Iss 2 (2022) |
| Druh dokumentu: | article |
| ISSN: | 2182-2395 2182-2409 |
| Popis: | CLOVES syndrome is a rare overgrowth syndrome caused by an activating somatic mutation in the PIK3CA gene. We report the case of a six-month-old male that presented with a complex dermatosis with evolution since birth. Physical examination revealed a reticulated erythematous patch that affected the right anterior chest wall, where it showed sharp demarcation at the midline. He also had gigantism of the hands and feet, with an acral furrowing of the skin. Later on, he developed papillomatous plaque lesions in the cervical region, suggestive of epidermal nevi. Genetic study performed on lesional skin confirmed the PIK3CA mutation, establishing the diagnosis of CLOVES syndrome. The present case stands out given the rarity of this entity. Early differentiation between other overgrowth syndromes is important, namely because of the worse prognosis of Proteus. Moreover, we emphasize the importance of cutaneous findings and the dermatologist’s role in the diagnostic approach to such cases. |
| Databáze: | Directory of Open Access Journals |
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