Biomedical subjects
J E Lai Cheong
Publications and source records attributed to J E Lai Cheong.
A rash on the back. Diagnosis: confluent and reticulated papillomatosis (CRP) of Gougerot and Carteaud.
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Molecular abnormalities of the desmosomal protein desmoplakin in human disease.
Desmoplakin is the principal plaque protein of desmosomes, specialized adhesion junctions found in various tissues including skin, heart and meninges. It is an entirely intracellular protein and in keratinocytes desmoplakin binds to other structural components of desmosomes such as cadherins and armadillo proteins, as well as to keratin filaments. Clues to the biological significance of desmoplakin have recently emerged from a number of naturally occurring human desmoplakin gene mutations. Both autosomal dominant and autosomal recessive disorders have been reported. The spectrum of clinical features includes varying degrees of keratoderma, blisters, nail dystrophy, woolly hair and, in some cases, cardiomyopathy. This review provides an update on genotype-phenotype correlation for human desmoplakin mutations as well as an overview of desmoplakin abnormalities in other conditions, including autoimmune blistering diseases, epithelial malignancies and blood vessel morphogenesis.
Retinal vein thrombosis associated with a herbal phytoestrogen preparation in a susceptible patient.
A 55 year old woman, known to have systemic lupus erythematosus and protein S deficiency, presented with sudden onset of visual loss in the left eye. Three days previously, she took a herbal phytoestrogen preparation for relief of her menopausal symptoms. Ophthalmological assessment showed a left inferior hemiretinal vein thrombosis. The temporal relation between the onset of visual symptoms and ingestion of this herbal preparation suggested that in this patient with a prior non-manifest prothrombotic tendency, there may be an association between the development of retinal vein thrombosis and herbal phytoestrogen use.
Unusual scars in a young female patient.
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