Search

Background: Epidermolysis bullosa (EB) comprises a group of rare genetic conditions that are characterized by fragility of the skin and mucous membranes and formation of blisters with minor trauma. Severe forms can be life limiting. The palliative care needs of children with severe EB are poorly described. Aim: The aim of this case series was to examine the contribution of a pediatric palliative care service to the complex health care needs of children with severe EB. Methods: We present a case series of five children with severe forms of EB who were known to the state-wide Victorian Paediatric Palliative Care Service, with a discussion of our learnings in caring for these children and their families. Results: Medical treatment decision making in EB provokes complex ethical, psychological, personal, and professional dilemmas. This case series highlights the diversity of management approaches that may be considered, each tailored to the unique context of the child and family.

A two-year-old girl was initially suspected of being a victim of child abuse due to the presence of large erosions and scars on her buttocks and other areas of her body. However, further examination and history-taking revealed that she had a rare skin fragility disorder called epidermolysis bullosa. The disorder causes blistering and fragility of the skin and mucous membranes. The girl was enrolled in a specialized care program and responded well to preventive treatment. This case highlights the importance of considering alternative diagnoses and obtaining a thorough history when evaluating unusual skin presentations in children. [Extracted from the article]

The article presents a case study of a 66-year-old man presented with a 6-week history of progressively enlarging right parotid lump. It discusses the Fine needle aspiration confirmed a poorly differentiated neuroendocrine tumour, positive for synaptophysin and chromogranin. It notes the definitive radiotherapy using intensity-modulated radiotherapy for surgical management and subsequent treatment provided to the patient.