Browsing by Author "Almeida, FT"
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- Generalized bullous fixed drug eruption due to ibuprofenPublication . Almeida, FT; Caldas, R; Oliveira, ÁA; Pardal, J; Pereira, T; Brito, CIbuprofen can cause a wide variety of cutaneous reactions with a relatively high frequency, but establishing the causal relationship is usually difficult [1]. We report a case of a skin drug reaction due to ibuprofen, confirmed by positive patch test results.
- Hypotrichosis with Juvenile Macular DystrophyPublication . Almeida, FT; Carneiro-Freitas, R; Caldas, R; Vieira, APHypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin. We report a case of a 4-year-old female patient diagnosed with this genodermatosis.
- Improbable lesion in a childPublication . Almeida, FT; Campos, MA; Carvalho, SD; Brito, C
- Reed's SyndromePublication . Almeida, FT; Santos, R P; Carvalho, SD; Brito, CMultiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reed's syndrome, is a rare genodermatosis, with an autosomal dominant pattern of inheritance. It results from a germline heterozygous mutation of fumarate hydratase gene, that is classified as a tumor suppressor gene. Hereditary leiomyomatosis and renal cell cancer is characterized by the association of MCUL with renal cell carcinoma. We report a case of a 57-year-old woman, with multiple cutaneous leiomyomas as the presenting sign of Reed's syndrome.