Studies
This page includes both current and completed BPSU studies. You can browse studies by speciality, year or status using the filters below, and access study summaries, protocols, publications and patient information materials where available. Together, these studies provide an important evidence base for clinical practice, service development, public health policy and future research.
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Congenital ichthyosis
This two year, prospective BPSU study investigates the incidence, early management and outcomes at 12 months, of babies born with harlequin ichthyosis (HI) or collodion membrane (CM) born between 1 November 2018 and 31 October 2020. These are rare genetic conditions characterised by thick, tight scaly skin and significant neonatal mortality.
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X-linked anhidrotic ectodermal dysplasia (XLAED)
XLAED is a rare inherited disease of variable clinical form. Affected males have sparse body and scalp hair, few sweat glands and few if any teeth. The principal hazard of the condition is over-heating, which can cause death ln early infancy. At its conclusion, the investigators had learned of 11 new cases.
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