Articles related to RARE DISEASES

In a recent clinical observation, a patient treated with dapsone for leprosy exhibited symptoms of methemoglobinemia, despite a normal Pao2 level. Such cases underscore the need for vigilant monitoring of oxygen saturation and methemoglobin levels during dapsone therapy.

In the case of a 32-year-old patient, a challenging diagnosis of pyoderma gangrenosum associated with aseptic abscess syndrome was established following an intricate evaluation, highlighting the necessity for awareness and precision in diagnosing and managing similar complex cases.

In the realm of rare diseases, early diagnosis is a critical challenge. Machine learning is emerging as a pivotal tool in identifying familial amyloid polyneuropathy (FAP) patients, promising a new era of precision in genetic testing and timely treatment initiation.

This article illustrates a case of bullosis diabeticorum, spotlighting the condition’s clinical presentation, diagnosis, and management, offering key insights for physicians in the early detection and care of this rare diabetic complication.

The REVIVE trial elucidates rusfertide’s capacity to maintain hematocrit levels below 45% during its 28-week study period, underscoring its potential as a transformative agent in the treatment of polycythemia vera. This efficacy, coupled with a favorable safety profile, marks a significant advancement in therapeutic options for this chronic condition.

Necrobiosis lipoidica, while commonly associated with diabetes, can also present in non-diabetic individuals, as illustrated by this patient’s 13-year journey from diagnosis to spontaneous resolution.