More than a Feeling: Dermatological Changes Impacted by Spaceflight.

Spaceflight poses a unique set of challenges to humans and the hostile Spaceflight environment can induce a wide range of increased health risks, including dermatological issues. The biology driving the frequency of skin issues in astronauts is currently not well understood. To address this issue, we used a systems biology approach utilizing NASA's Open Science Data Repository (OSDR) on spaceflown murine transcriptomic datasets focused on the skin, biomedical profiles from fifty NASA astronauts, and confirmation via transcriptomic data from JAXA astronauts, the NASA Twins Study, and the first civilian commercial mission, Inspiration4.

Management of skin cancer in recipients of solid organ transplants.

Recent improvements in post-transplant care have led to an increased life expectancy for recipients of organ transplants. These patients require lifelong immunosuppression, which is associated with an increased incidence of malignant disease. Skin cancers are the most common malignancies seen in recipients of organ transplants and are associated with significant morbidity and mortality.

Diagnosis by numbers: defining skin disease pathogenesis through collated gene signatures.

Disease gene expression profiles can be utilized as biomarkers for diagnostic, prognostic, and targeted therapeutic purposes, although individual data sets may be of limited generic value. To develop broader clinical relevance from disease gene signatures, Inkeles et al. demonstrate how mining publically available microarray data from a range of skin disorders can elucidate disease pathways, generate a multi-disease classifier, and identify potential therapeutic targets.

Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies.

A key function of human skin is the formation of a structural barrier against the external environment. In part, this is achieved through the formation of a cornified cell envelope derived from a stratified squamous epithelium attached to an epithelial basement membrane. Resilient in health, the structural integrity of skin can become impaired or break down in a collection of inherited skin diseases, referred to as the blistering genodermatoses.

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.

Individuals with inherited skin diseases often pose one of the most difficult diagnostic challenges in dermatology. The hunt for the underlying molecular pathology may involve candidate gene screening or linkage analysis, which is usually determined by the initial history, the physical findings and laboratory tests. Recent technical advances in DNA sequencing, however, are shifting the diagnostic paradigm.

Next generation diagnostics of heritable connective tissue disorders.

Finding pathogenic mutations in monogenic diseases represents one of the significant milestones of late 20th century molecular genetics. Mutation data can improve genetic counseling, assist disease modeling and provide a basis for translational research and therapeutics. The logistics of detecting disease mutations, however, has not always been easy or straightforward.

The great deception: tranexamic acid and extensive pulmonary emboli.

Pulmonary embolism (PE) is a common and life-threatening condition. The British Thoracic Society PE guidelines state that PE is reliably excluded in patients with low-intermediate clinical probability and a negative D-dimer. We are reporting the case of a 47-year-old lady, taking tranexamic acid for menorrhagia, who presented with shortness of breath and was diagnosed with extensive bilateral PE.

External iliac vein stenosis owing to prolonged cycling.

Prolonged cycling has previously been associated with external iliac artery stenosis, termed "cyclists' iliac syndrome." However, no association between external iliac vein stenoses and cycling has been previously described. We describe a unique case of a 70-year-old cyclist presenting with an iliofemoral deep venous thrombosis owing to an external iliac vein stenosis.

Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature.

Gerodermia osteodysplastica and wrinkly skin syndrome are rare autosomal recessive disorders. Due to the many phenotypic similarities in these two conditions, it has been proposed that they represent the same disorder. Both conditions are well delineated in the genetic literature, but despite skin involvement being a striking feature, they are rarely reported in dermatology journals.