Bloom syndrome.

Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia.

Intraosseous venous malformations of the zygoma: clarification of misconceptions regarding diagnosis and management.

Primary intraosseous venous malformations affecting the zygoma are rare vascular lesions, with only 35 cases reported in the surgical literature. Despite the establishment of the binary classification system, which serves to distinguish vascular tumors from malformations, inappropriate use of the term "hemangioma" to describe a variety of distinct vascular anomalies remains widespread. The authors present 3 cases of zygomatic intraosseous venous malformations and summarize the clinical, radiographic, and immunohistochemical features of these lesions. In each case, an insidious clinical course, combined with the pathognomonic finding of radiating trabeculae on computed tomography, suggests the diagnosis of intraosseous venous malformation. Negative glucose transporter isoform 1 immunoreactivity and histopathological analysis were used to reinforce this diagnosis in 1 patient. Management was individualized in each case, based on symptom complex and aesthetic concern. Given that the therapeutic approach to vascular anomalies is dependent on accurate diagnosis, resolution of semantic matters will optimize the management of these lesions.

Laser treatment of facial scars.

PURPOSE OF REVIEW: Facial scars can develop as a result of trauma, surgery, burns, acne, or other conditions. These scars are often quite distressing to patients. Lasers were first used to treat these scars in the 1990s. Recently, new laser technology has been used to prevent and treat scars. This literature review and the report of the senior author's recent experience summarize the recent advances in laser treatment of scars. RECENT FINDINGS: With the development of new laser technology, the treatment options for hypotrophic scars and developing scars have increased. Furthermore, there are expanded options for treatment of established hypertrophic scars. Recent studies have shown that nonablative and fractionated lasers can be effective for treating hypotrophic and developing scars. Scar improvements may be due to direct effects of the laser and/or histochemical effects, including production of heat shock proteins and tumor growth factors. Nonablative and fractionated lasers have a shorter recovery period than CO2 resurfacing lasers. This can vary from a few hours to up to 7 days. SUMMARY: Recent new laser technology has increased the options for treatment of scars. These have been shown to be beneficial for hypotrophic, incipient, and established scars. The benefits of laser therapy may be due to direct and/or histochemical effects.