Genotypephenotype correlation in rare lichenoid and scarring dermatoses and rare alopecias

 rare lichenoid and scarring dermatoses and rare alopecias / Posted 2 years ago

There are numerous rare (ie less than 1:2000) lichenoid and scarring skin disorders that may affect skin, oral cavity, genitalia, scalp, hair or nails. Depending on the nature of the area involved, the disease may present with intensely itchy or sore inflamed areas and may lead to scarring, onychodystrophy or alopecia. The management of rare lichenoid and scarring skin disorders and rare alopecias is invariably challenging and the prognosis is highly variable. Rare diseases are generally understudied and poorly understood and current treatment strategies are generally inadequate. There is ample evidence that there is an unexplored genetic component underlying many rare skin disorders and this study aims to identify genetic mutations associated with rare forms of lichenoid inflammation, scarring and alopecia and correlate these with the observable clinical characteristics.

  • Inclusion Criteria :
    • Patients can be included into this study if they fulfil the following inclusion criteria:
    • Patients must give written informed assent/consent to take part in the study
    • Patients with a confirmed diagnosis of the rare dermatosis in question will be included (i.e. strong clinical +/­ histological evidence, as appropriate)
  • Exclusion Criteria :
    • Patients will be excluded from the study if they meet any of the following criteria:
    • Any inclusion criteria not met
    • Adult patients that lack capacity to consent to take part in the study
  • Study start date : 01/02/2016
  • Study end date : 30/03/2022
  • Wales-Based Study Contact : Not recruiting in Wales
  • Principal Investigator : Prof John McGrath
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