Vismodegib in Gorlin-Goltz syndrome: A systematic review.

Treatment with Hedgehog Inhibitors in Gorlin-Goltz syndrome (GGS) yields favourable objective clinical responses, yet secondary resistance and class-related toxicity restrict treatment duration. This study aims to review current data on GGS patients undergoing vismodegib therapy, focusing on treatment duration, clinical outcomes and schedule modifications. A systematic search of the PubMed database was conducted for English articles from 1993 to 2023, identifying 31 papers suitable for inclusion. A total of 351 patients, with a mean age of 52 years, were analysed. The average treatment duration was 9.3 months for patients who discontinued treatment, and 25.1 months for those who continued vismodegib at the time this study was published. Vismodegib achieved a complete response rate of 44%. Treatment interruption predominantly occurred due to side effects (69.1%) and secondary resistance (9.1%). The use of alternative regimens, although not compromising efficacy, may enhance treatment compliance. Further investigations are warranted to ascertain the optimal treatment regimen and timeline for GGS patients. Schedule modifications offer promise in ameliorating side effects and facilitating long-term treatment.

Cutaneous Rosai-Dorfman disease: a challenging diagnosis.

Rosai-Dorfman disease is a rare benign histiocytic proliferative disease of unknown cause that, in exceptional cases, presents with lesions confined to the skin. Clinically variable types of lesions such as papules, nodules and plaques have been reported. We present a case of a 27-year-old woman with a 1-year history of erythematous papular and nodular lesions on the malar and right axillary regions, previously misdiagnosed as acne. She reported no fever, malaise or weight loss, while physical examination and laboratory workup were normal. Bacteriological and mycobacteriological cultures were negative. Histopathological findings showed dense infiltration of inflammatory cells involving the entire dermis, consisting of large macrophages with emperipolesis, S100 and CD68 positive, neutrophils, eosinophils, lymphocytes and plasma cells. The patient was treated with oral prednisolone without improvement. Dapsone was subsequently initiated with favourable clinical response. The present article aimed to emphasise the clinical and histological differential diagnosis and share the treatment experience.

Cutaneous collagenous vasculopathy: a rare cause of generalised cutaneous telangiectasia.

Cutaneous collagenous vasculopathy is a rare cutaneous microangiopathy of unknown aetiology with only 27 cases reported to date. It is characterised clinically by generalised cutaneous telangiectasias and microscopically by dilation and marked thickening of the walls of superficial dermal blood vessels. Differential diagnosis should be performed with other causes of disseminated telangiectasias, including generalised essential telangiectasia, from which it is clinically indistinguishable. We report a new case of cutaneous collagenous vasculopathy in a 61-year-old woman presenting with a 5-year history of asymptomatic telangiectasias distributed symmetrically on her upper and lower limbs and highlight the importance of clinicopathological correlation for the diagnosis of this disease.