4 documents found, page 1 of 1

Reed's Syndrome

Multiple 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...

Improbable lesion in a child

Generalized bullous fixed drug eruption due to ibuprofen

Ibuprofen 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 Dystrophy

Hypotrichosis 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.