Harlequin ichthyosis (HI) is the most severe and frequently lethal form of recessive congenital ichthyosis. Although defects in lipid transport, protein phosphatase activity, and differentiation have been described, the genetic basis underlying the clinical and cellular phenotypes of HI has yet to be determined. By use of single-nucleotide-polymorphism chip technology and homozygosity mapping, a common region of homozygosity was observed in five patients with HI in the chromosomal region 2q35. Sequencing of the ABCA12 gene, which maps within the minimal region defined by homozygosity mapping, revealed disease-associated mutations, including large intragenic deletions and frameshift deletions in 11 of the 12 screened individuals with HI. Since HI epidermis displays abnormal lamellar granule formation, ABCA12 may play a critical role in the formation of lamellar granules and the discharge of lipids into the intercellular spaces, which would explain the epidermal barrier defect seen in this disorder. This finding paves the way for early prenatal diagnosis. In addition, functional studies of ABCA12 will lead to a better understanding of epidermal differentiation and barrier formation.

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A cultural change is needed for trainees to feel that WBAs are not just a tick box exercise, but a useful educational tool for learning. Ongoing work on implementation needs to include additional training, especially on the value of WBAs for formative assessment and consultants having protected time in their job plans for training.

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The incidence and prevalence of diaper dermatitis varies widely between published studies. It is a condition which causes considerable parental anxiety. To better understand the frequency of diaper dermatitis, treatment practices, and the current importance of previously identified etiologic factors, a questionnaire survey of parents who had children wearing diapers (n = 532) attending a large United Kingdom district general hospital was undertaken. At the time of survey, only 16% of the study population had diaper dermatitis. Forty-eight percent of the study population had never had an episode of diaper dermatitis. In a multivariate analysis, current diaper dermatitis was independently associated with four factors: presence of oral thrush, number of previous episodes, frequency of diaper changes, and diarrhea. Recurrent episodes of diaper dermatitis were associated with increasing age, lack of barrier cream use, current diaper rash, and frequency of diaper changes. In the majority of children with diaper dermatitis at the time of survey, treatment had been instituted in the community. Diaper dermatitis usually presents and is treated successfully outside the hospital setting and is not a common clinical problem in secondary care.