The term autosomal recessive congenital ichthyosis (ARCI) currently refers to a rare inherited group of ichthyosis that includes lamellar ichthyosis (LI), congenital ichthyosiform erytheroderma (CIE), harlequin ichthyosis (HI), bathing suit ichthyosis (BSI) and self-healing collodion baby. Affected individuals are often born with a similar collodion membrane or red scaly skin. Many ISG members have recently asked questions like: can doctors predict how will my ichthyosis change over time? why is there different severity and appearance of ichthyosis? what treatments are particularly useful for my type of ichthyosis?
We hope to answer your questions through our new research study entitled: The UK rare disease research database for autosomal recessive congenital ichthyosis. We are looking for children and adults affected by ARCI to take part in our research study. In this research we want to study the relationship between the appearance of your skin and the underlying gene mutation that caused your ARCI. Participation will involve you seeing a skin doctor/nurse for one or two times. The study doctor/nurse will collect information about how ichthyosis has affected you. You will undergo a detailed skin examination and complete some questionnaires. You can further opt in to donate a saliva, blood, skin and hair samples.
We cannot promise that the study will help you straight away, but by joining in you will be helping us to understand more about the relationship between the genetic mutations associated with ARCI and the observable characteristics and traits of individuals affected by ARCI. We hope this will help you and other people like you in the future.
If you have any questions or if you are interested in finding out more about the research you can speak to your usual skin doctor and/or contact me at firstname.lastname@example.org or on 0207 188 6353 so that I can advise you on how to get involved in the research study.
Magdalena Martinez, Clinical Research Nurse and Coordinator for the ARCI database study
Update 22 April 2015
ARCI Overview and update
We would like to thank members of the ISG and those affected by ichthyosis both in the UK and internationally for their interest and overwhelming support for our research study into autosomal recessive congenital ichthyosis (ARCI). To date, we have set up research sites in London, Birmingham and Cambridge and we have involved over 35 families in the study. We have some immediate success as we were able to identify the genetic diagnosis for some of the families involved. Generally speaking, we can include you into our study if you have ARCI and you were born in England OR you have seen a dermatologist in England before. Many of our study procedures are optional. You can take part in the study by attending a hospital appointment OR we could do this over the telephone and post. If you are interested in the study, or have any questions, please do not hesitate to contact us directly (email@example.com).
Information for ISG members and those affected by ichthyosis outside England, as well as those with other forms of ichthyosis
Many ISG members currently living outside England wanted to get involved in the study and we are very sorry to have disappointed you at this stage. The research grant we were awarded only permitted us to carry out the study within England until March 2017. With limited resources available, we are focusing our attention on lamellar ichthyosis, non-bullous congenital ichthyosiform erytheroderma, harlequin ichthyosis, self-healing collodion baby, ichthyosis prematurity syndrome and ARCI with reduced hair (hypotrichosis).
Our research team is currently directly and indirectly involved in a number of national research initiatives (in the process of being set up) that are relevant to all members of the ISG. You may have heard about the government’s 100,000 Genome project (http://www.genomicsengland.co.uk) and the British Association of Dermatologists Dermatology and Genetic Medicine Register (http://badgem.org.uk). All these studies have the potential to improve genetic skin diseases like ichthyosis. It is highly likely that people with ichthyosis living in other parts of the UK will be able to join this genome DNA sequencing project at some stage. Likewise, it may become possible to add on people with ichthyosis from other countries for particular research studies, although these additional opportunities may not come to bear until 2017 at the earliest. When we have more information we will let you know. Meanwhile, please do not hesitate to contact us to register your interests.