Current and Investigational Therapeutics for Fabry Disease.

Fabry disease (FD) is an X-linked lysosomal storage disease caused by a deficiency in the lysosomal enzyme α-galactosidase (α-GAL). This in turn leads to the buildup of globotriaosylceramide, resulting classically in progressive kidney disease, peripheral neuropathy, early-onset cerebrovascular disease, gastrointestinal symptoms, hypertrophic cardiomyopathy, arrhythmias, corneal whorls, and angiokeratomas. The diagnosis of FD relies on identification of a low α-GAL enzyme activity, identification of a genetic mutation, or histologic evidence of disease.

Remote Patient Management in Home Dialysis: Planning Considerations for the Future.

Remote patient management (RPM) has the potential to improve patient outcomes in home dialysis patients. Achieving this requires an operational plan that addresses data collection, RPM adoption, and plans for therapeutic interventions on abnormal results. The objective of this chapter is to discuss the key factors to be considered when setting up a RPM program, and in particular how a RPM program can be beneficial in the management of home dialysis patients.

Scleredema diabeticorum.

We present a case of scleredema with a leonine facies in a 56-year-old man with a history of poorly controlled diabetes mellitus. The patient initially presented with erythematous, edematous papules and plaques on the face, neck, and upper back.

Proliferating trichilemmal cyst with focal calcification.

A 64-year-old man presented with a superficial, well-demarcated, skin-colored tumor on the left posterior scalp that measured 4 x 5 x 6 cm. The tumor was nearly hairless, rubbery, non-tender, and mobile over the underlying subcutaneous tissues. The lesion had grown slowly since arising approximately 30 years ago.