A puzzling mutation in congenital erythropoietic porphyria and an association with β‐thalassaemia trait

evidence base for PCA treatments. Furthermore, secondand third-line treatments were often not recorded, and when stated also varied greatly between individuals (see Table 1). Comments made by respondents confirm that PCAs are poorly understood and that clinicians face uncertainty in their diagnosis and management. Unfortunately, several dermatologists believed that PCAs are untreatable and histology is unhelpful. Trichologists generally offered supportive care and referred patients for diagnosis and treatment either to their GP or to a dermatologist. This is the first study to provide epidemiological data of PCA in U.K. general dermatology and trichology practice. These data highlight that PCAs are rare, and may even occur less frequently than reported, due to the possibility of nonresponse bias. Thus, gaining significant clinical experience in PCA management is limited outside the setting of a specialist hair clinic. Important investigations, such as diagnostic scalp biopsy, are often not performed despite recommendations to biopsy all cases of scarring alopecia. Our data suggest that PCAs are generally managed with difficulty. Prompt referrals to specialist hair clinics should be encouraged to enable the development of clinical expertise and promote recruitment into basic science and clinical research studies. Early diagnosis and effective management are essential to halt progression of these debilitating conditions, with further research urgently needed to identify effective treatment strategies. A national database of PCA cases would assist in gaining a better understanding of the natural history of each entity and help identify optimal management practices.