Study of rare cutaneous lichenoid, alopecic and scarring variants
Research type
Research Study
Full title
Genotype-phenotype correlation in rare lichenoid and scarring dermatoses and rare alopecias
IRAS ID
178308
Contact name
John McGrath
Contact email
Sponsor organisation
King's College London
Duration of Study in the UK
10 years, 0 months, 1 days
Research summary
Background
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.Methods
The NIHR Rare Skin Diseases Theme has provided support for dissecting pathways underlying the lichenoid inflammation, scarring and alopecia seen in the rare subvariant of lichen planopilaris known as frontal fibrosing alopecia (FFA). Little is known about the heterogeneous disease group in question and meticulous clinical phenotyping is imperative. Site researchers will identify, recruit and consent potential participants before undertaking their thorough clinical examination. Clinical information directly relevant to participants' diagnosis will be collected from their hospital notes. Living participants may be requested to donate blood or saliva samples. Genetic material will be extracted from one of these samples. Blood samples will also be analysed for biochemical and protein contents. Gene mutation analysis will be performed on the DNA samples. Parents/relatives of living participants may also be invited to donate a DNA sample as this will facilitate mutation analysis of participants’ DNA. All data collected will be anonymised, used for the purpose of this study only, and analysed by the coordinating site/Chief Investigator adhering to strict national standards of privacy, security and confidentiality.REC name
East Midlands - Leicester South Research Ethics Committee
REC reference
15/EM/0273
Date of REC Opinion
29 Jul 2015
REC opinion
Further Information Favourable Opinion