Reed’s Syndrome: A Rare Systemic Genodermatosis

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Madalena Braga - Corresponding Author

Madalena Peixoto de Sousa Braga [madalena.braga3@gmail.com]
Rua Vale Formoso, 466, piso 2, 4200-510 Porto, Portugal

Leonor Ferreira da Silva
Nuno Mendanha Pereira
Gustavo Fernandes
Miguel Magalhães

Abstract

Reed’s syndrome is an autosomal dominant rare genodermatosis, characterized by the presence of multiple cutaneous and uterine leiomyomatosis. This syndrome can be associated with renal cell carcinoma and leiomyosarcoma. A 55-year-old woman presented to routine consultation. Physical examination was notorious for the presence of multiple asymmetrical, irregular, skin-colored, with a smooth surface papules and nodules on her chest and left arm. They had been present for about two decades. The patient’s past medical history was significant for myomectomy and hysterectomy. A cutaneous papule’s biopsy revealed a leiomyoma. Clinical and histological findings combined with surgical history suggested Reed’s syndrome, which was later confirmed by genetic tests. Her family was referred for genetic counseling. Systematic review of skin lesions is essential, as they can be the diagnostic clue for systemic diseases.

Keywords: Kidney Neoplasms; Leiomyomatosis; Neoplastic Syndromes, Hereditary; Skin Neoplasms

Article Details

1.
Braga M, Ferreira da Silva L, Mendanha Pereira N, Fernandes G, Magalhães M. Reed’s Syndrome: A Rare Systemic Genodermatosis. Gaz Med [Internet]. 2023 Sep. 6 [cited 2024 Nov. 25];10(3):225-8. Available from: https://gazetamedica.pt/index.php/gazeta/article/view/624
Section
CLINICAL CASE