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We report three babies from two families with a severe lethal form of congenital cutis laxa. All three had redundant and doughy‐textured skin and two siblings from one family had facial dysmorphism. Echocardiograms showed thickened and poorly contractile hearts, arterial dilatation and tortuosity. Post‐mortem examination in two of the babies further revealed widespread ectasia and tortuosity of medium and large sized arteries, myocardial hypertrophy, rib and skull fractures. The presence of fractures initially suggested a diagnosis of osteogenesis imperfecta. Under light microscopy bony matrices were abnormal and arterial wall architecture was grossly abnormal showing fragmented elastic fibres. Molecular analysis of known cutis laxa genes did not yield any pathogenic defects. Whole exome sequencing of DNA following informed consent identified two separate homozygous variants in the LOX (Lysyl Oxidase) gene. LOX belongs to the 5‐lysyl oxidase gene family involved in initiation of cross‐linking of elastin and collagen. A mouse model of a different variant in this gene recapitulates the phenotype seen in the three babies. Our findings suggest that the LOX gene is a novel cause of severe congenital cutis laxa with arterial tortuosity, bone fragility and respiratory failure. [ABSTRACT FROM AUTHOR]

Aim The study aims to assess the usefulness of duodenal bulb biopsy in the diagnosis of coeliac disease ( CD) in a paediatric population. Methods Since February 2009, in our institution, we have routinely included duodenal bulb biopsy in addition to distal duodenal biopsies in children undergoing diagnostic upper gastrointestinal endoscopy. All children diagnosed with CD between February 2009 and May 2011 were identified, and those children who had biopsy finding of CD limited to duodenal bulb were reviewed with regard to clinical, serological and histopathological parameters. Duodenal bulb biopsy reports of those children who did not have CD were also reviewed as control group. Results A total of 101 children were diagnosed with CD during the study period. The mean age was 8.21 years (±3.63), 33 males and 68 females. There were 8 out of 101 (7.92%) who had histological changes consistent with CD exclusively in the duodenal bulb, with normal histology in the distal duodenum. None of duodenal bulb biopsy was abnormal in the control group. Conclusions In some children, diagnostic CD changes may be limited to the duodenal bulb only and hence we recommend that duodenal bulb biopsies be included routinely in children suspected with CD to improve the diagnostic yield. [ABSTRACT FROM AUTHOR]

Focuses on the development of a subcutaneous crystal on infants having eyelid hemangiomas following intralesional corticosteroid injections. Calcification in areas of degenerate hemangioma; Period of the occurrence of the crystal; Explanation on the complication of intralesional corticosteroid therapy.

We report on a recurrence of a lethal skeletal dysplasia with features similar to Desbuquois dysplasia (DD) to expand the phenotypic spectrum of DD-like conditions, to increase awareness of DD-like phenotypes in the differential diagnosis of prenatal onset skeletal dysplasias, and to suggest a new sign, the Upsilon sign, to aid in the differential diagnosis of skeletal dysplasias with an extra ossification centre distal to second metacarpal., ((c) 2010 Wiley-Liss, Inc.)