Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Background: Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-function mutations in NIPBL with mosaic individuals representing a significant proportion. Mutations in other cohesin components, SMC1A, SMC3, HDAC8 and RAD21 cause less typical CdLS.

A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation.

Importance: Proteus syndrome is an extremely rare disorder of mosaic postnatal overgrowth affecting multiple tissues including bone, soft tissue, and skin. It typically manifests in early childhood with asymmetric and progressive skeletal overgrowth that leads to severe distortion of the skeleton and disability. The genetic basis has recently been identified as a somatic activating mutation in the AKT1 gene, which encodes an enzyme mediating cell proliferation and apoptosis.

Acute localised exanthematous pustulosis (ALEP) induced by clindamycin in pregnancy.

Acute generalised exanthematous pustulosis (AGEP) or toxic pustuloderma (TP) is an uncommon though well-recognised cutaneous hypersensitivity reaction that is usually drug-induced. It presents with a triad of scattered sterile pustules, fever and malaise. Acute localised exanthematous pustulosis (ALEP) is a rare and unusual variant of AGEP.

Patch testing in patients treated with systemic immunosuppression and cytokine inhibitors.

Background: Currently, there is little data available on the reliability of patch testing in patients taking immunosuppressive agents other than systemic corticosteroids.

Objectives: We present data from 38 patients who were patch tested whilst taking various immunomodulating agents to determine if positive reactions can be elicited. PATIENT/MATERIALS/METHODS: Between September 2006 and May 2009, 38 patients attending the St John's Institute of Dermatology were patch tested whilst taking immunosuppressive agents including azathioprine, ciclosporin, infliximab, adalimumab, etanercept, methotrexate, mycophenolate mofetil, and tacrolimus.