RESEARCHING THE BURDEN OF NETHERTON SYNDROME: A SYSTEMATIC LITERATURE REVIEW
Author(s)
Sarah Brighton, MSc1, Mandy Aldwin-Easton, -2, Amy S Paller, MS MD3, Karin Veldman, -4, Emily Back, MSc1, Maisie Robinson, BSc5, Samuel Bristow, BSc, MSc1, George Morgan, MSc1.
1DHT.health, Clitheroe, United Kingdom, 2Ichthyosis Support Group, Wokingham, United Kingdom, 3Northwestern University Feinberg School of Medicine and Ann and Robert H. Lurie Children’s Hospital, Chicago, IL, USA, 4Dutch patient association for Ichthyosis Networks, Assen, Netherlands, 5NHS Business Service Authority, Newcastle, United Kingdom.
1DHT.health, Clitheroe, United Kingdom, 2Ichthyosis Support Group, Wokingham, United Kingdom, 3Northwestern University Feinberg School of Medicine and Ann and Robert H. Lurie Children’s Hospital, Chicago, IL, USA, 4Dutch patient association for Ichthyosis Networks, Assen, Netherlands, 5NHS Business Service Authority, Newcastle, United Kingdom.
OBJECTIVES: Netherton Syndrome (NS) is a rare inherited skin disorder caused by pathogenic variants in the SPINK5 gene. A severe, multisystemic condition without satisfactory treatment, NS is characterised by a heterogeneous clinical presentation that may include erythroderma or patches of red skin with distinctive scaling, considerable itch and pain, hair shaft abnormalities, atopy, and chronic systemic inflammation. Variability in clinical presentation may contribute to misdiagnosis or delays in diagnosis, resulting in a substantial clinical burden and corresponding impacts on quality of life (QoL). This study reviewed the clinical, QoL, and economic burden of NS.
METHODS: A systematic literature review of electronic databases, including MEDLINE® and Cochrane Library, was conducted to identify literature published from January 2000 to May 2026, alongside relevant conference proceedings since January 2020. Two reviewers independently double-screened studies according to pre-defined criteria. Data extracted included study characteristics and results relating to the burden of NS.
RESULTS: Of 75 records screened, 28 relevant articles (50%) and conference abstracts (50%) were identified for review, 13 (46%) conducted in Europe. Half were case reports; of the remainder, observational studies were most common (9/28, 32%). Sample size (patients and caregivers) ranged from 1 to 43; the mean (SD) sample size was 8 (10). Research mainly focused on clinical burden (93%), with skin symptoms such as itching and redness discussed most often (86%). QoL (46%) and healthcare (43%) were also featured; limited data were reported on psychosocial and relational impact (32%), productivity and activities (25%), and costs (11%).
CONCLUSIONS: Evidence assessing the burden of NS on patients and caregivers remains sparse. Recent literature suggests patients face significant burden from clinical symptoms that impact their QoL. This review provides an initial assessment of NS burden, highlighting the need for broader stakeholder engagement to better characterise psychosocial burden, costs, productivity impacts, and research priorities.
METHODS: A systematic literature review of electronic databases, including MEDLINE® and Cochrane Library, was conducted to identify literature published from January 2000 to May 2026, alongside relevant conference proceedings since January 2020. Two reviewers independently double-screened studies according to pre-defined criteria. Data extracted included study characteristics and results relating to the burden of NS.
RESULTS: Of 75 records screened, 28 relevant articles (50%) and conference abstracts (50%) were identified for review, 13 (46%) conducted in Europe. Half were case reports; of the remainder, observational studies were most common (9/28, 32%). Sample size (patients and caregivers) ranged from 1 to 43; the mean (SD) sample size was 8 (10). Research mainly focused on clinical burden (93%), with skin symptoms such as itching and redness discussed most often (86%). QoL (46%) and healthcare (43%) were also featured; limited data were reported on psychosocial and relational impact (32%), productivity and activities (25%), and costs (11%).
CONCLUSIONS: Evidence assessing the burden of NS on patients and caregivers remains sparse. Recent literature suggests patients face significant burden from clinical symptoms that impact their QoL. This review provides an initial assessment of NS burden, highlighting the need for broader stakeholder engagement to better characterise psychosocial burden, costs, productivity impacts, and research priorities.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
PCR135
Topic
Clinical Outcomes, Patient-Centered Research, Study Approaches
Topic Subcategory
Patient Engagement, Patient-reported Outcomes & Quality of Life Outcomes
Disease
Rare & Orphan Diseases, Sensory System Disorders (Ear, Eye, Dental, Skin)