RESUMO
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant genetic disorder resulting from mutations in the fumarate hydratase (FH) gene. It is characterised by a predisposition to cutaneous and uterine leiomyomas (fibroids) and an aggressive form of renal cell carcinoma (RCC). We report the case of a 53-year-old female who presented with an unusual rash in the context of a personal and family history of uterine leiomyomas requiring hysterectomy. A skin biopsy confirmed cutaneous leiomyomas and subsequent genetic testing demonstrated a pathogenic heterozygous mutation on exon 7 of the FH gene, confirming a diagnosis of HLRCC. Due to the recognised association with renal cell carcinoma in this syndrome, abdominal imaging was performed, which excluded RCC, and the patient was commenced on lifelong surveillance with annual abdominal magnetic resonance imaging.
RESUMO
The application of electron beam sweep makes it possible to carry out multifocal and multi-beam welding, as well as combine the welding process with local heating or subsequent heat treatment, which is important when preparing products from thermally-hardened materials. This paper presents a method of electron beam welding (EBW) with dynamic beam positioning and its experimental-calculation results regarding the formation of structures and properties of heat-resistant steel welded joints (grade of steel 20Cr3MoWV). The application of electron beam oscillations in welding makes it possible to change the shape and dimensions of welding pool. It also affects the crystallization and formation of a primary structure. It has been established that EBW with dynamic beam positioning increases the weld metal residence time and the thermal effect zone above the critical A3 point, increases cooling time and considerably reduces instantaneous cooling rates as compared to welding without beam sweep. Also, the difference between cooling rates in the depth of a welded joint considerably reduces the degree of structural non-uniformity. A bainitic-martensitic structure is formed in the weld metal and the thermal effect zone throughout the whole depth of fusion. As a result of this structure, the level of mechanical properties of a welded joint produced from EBW with dynamic electron beam positioning approaches that of parent metal to a greater extent than in the case of welding by a static beam. As a consequence, welding of heat-resistant steels reduces the degree of non-uniformity of mechanical properties in the depth of welded joints, as well as decreases the level of hardening of a welded joint in relation to parent metal.
RESUMO
Parry-Romberg syndrome (PRS) is characterised by progressive but self-limiting facial hemiatrophy. We describe a 48-year-old woman with a 3-year history of gradually worsening right facial hemiatrophy on a background of scleroderma. Her initial primary concern was alopecia. Within the last year, there was greater prominence of her right zygoma and hyperpigmentation on her forearms and left neck. She also had worsening headaches and neck stiffness in the mornings. A clinical diagnosis of PRS was made and she was subsequently treated with a course of methotrexate. She is due to be followed up by dermatology, rheumatology and maxillofacial surgery with the aim of reconstructive surgery once her symptoms stabilise.