RESUMO
Miliaria is a self-limiting cutaneous disease that may develop from skin exposure to humid climates, occlusion, or raised temperatures, forming groups of 1-3-mm-sized sweat-filled vesicles in the epidermis due to obstruction of the eccrine sweat duct. Here, we describe the first case of extensive bullous miliaria reported in a 47-year-old female with no comorbidities or significant medical history.
RESUMO
17q12 deletion syndrome is a rare autosomal dominant inherited condition. It results from de novo mutation and can occur without a family history. Hepatocyte nuclear factor-1 beta (HNF1B) and LIM homeobox 1 (LXH1) genes are the most common genes to be deleted in this syndrome. It has unique clinical characteristics involving multiple systems in the body. The most common presentations are usually renal involvement and maturity-onset diabetes of the young type 5 (MODY5). Genetic study is the golden tool to diagnose patients with this syndrome. Our case presents the unique clinical features of 17q12 deletion syndrome along with a literature review.