Can we clinically identify patients at risk of malignant transformation of skin tumors in Brooke-Spiegler syndrome?

Brooke-Spiegler syndrome (BSS) is a rare inherited autosomal dominant disease characterized by the development of multiple adnexal cutaneous neoplasms. BSS has been linked to mutations in CYLD gene, which is a tumor suppressor gene located on chromosome 16q12-q13. An increased risk of malignant transformation of adnexal cutaneous tumors in BSS patients has been reported. However, no reported genetic markers identify patients at risk of cutaneous malignancy. This study reviews published cases of BSS to investigate the role of clinical parameters as biomarkers of skin malignancy. A comprehensive review of the clinical aspects of BSS is based on 55 case reports. Our analysis revealed only age as a predictor of malignancy; however, this is also a general risk factor for development of malignancy and therefore of limited value as a screening tool. The study highlights the need for standardized clinical follow-up of patients.

Hereditary angioedema: a mother diagnosing her child using Google as a diagnostic aid.

Hereditary angioedema (HAE), due to C1-inhibitor deficiency, is a rare autosomal dominant and potentially life-threatening disease characterised by recurrent oedema attacks of skin, mucosa and viscera. Due to the rarity and the fact that symptoms of HAE imitate other forms of angioedema and other conditions, HAE may be misdiagnosed, especially in emergency settings. Consequently, patients with HAE may experience significant delays in diagnosis. Without an accurate diagnosis patients with HAE may not receive proper treatment. At times 'Doctor Google' may be an important tool in establishing the diagnosis. The aim of this case report is to emphasise the importance of listening to patients and relatives and being humble to 'Doctor Google'. Furthermore, the aim is to remind all healthcare personal of HAE and the importance of considering the rare differential diagnoses to common symptoms.