Mary R Judge

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A 9-year-old boy of Greek-Cypriot origin had been diagnosed at the age of 3 years as suffering from non-bullous ichthyosiform erythroderma. However, he also had hepatomegaly and abnormal liver function tests, biochemical evidence of myopathy, early cataracts, and lipid vacuoles in white blood cells and basal keratinocytes. A diagnosis of neutral lipid(More)
A case is reported of a male infant with congenital palmoplantar keratoderma and nail dystrophy who developed progressive perioral and perineal keratoderma. In addition, bilateral corneal epithelial dysplasia led to severe corneal scarring and impairment of vision. This syndrome has not been previously described.
Previous studies have shown that scale from lesional psoriatic skin contains substantial amounts of platelet activating factor (PAF). In this study, PAF and its immediate precursor, lyso-PAF, were measured in exudates from abrasions on lesional and uninvolved psoriatic skin, and from skin of healthy subjects. The mean amounts of PAF recovered from lesional(More)
Netherton's syndrome is a rare genodermatosis of unknown cause, which is classified as an ichthyosiform syndrome. A clinical and immunological study of seven patients with Netherton's syndrome illustrates the clinical spectrum of this disorder, the frequent association with atopy, and the absence of consistent immunological abnormalities. Failure to thrive(More)
7 Assal JP, Aoki TT, Manzano FM, Kozak GP. Metabolic effects of sodium bicarbonate in the management of diabetic ketoacidosis. Diabetes 1974;23 :405-11. 8 Bureau MA, Begin R, Berthianne Y, Shapcott D, Khoury K, Gagnon N. Cerebral hypoxia from bicarbonate infusion in diabetic acidosis. J Pediatr 1980;96: 968-73. 9 Nattrass M, Hale PJ. Clinical aspects of(More)
Impressive results have recently been reported in 29 cases of advanced refractory myeloma treated with 4-d infusions of Vincristine and Adriamycin (VAD). We report our own experience with this protocol in 13 cases of myeloma and related lymphoproliferative disorders. In 2 of these cases, VAD was used as first line treatment. Objective responses were seen in(More)
BACKGROUND This paper aims to review the case of a girl who presented with a number of dental anomalies, in addition to unusual skin, nail and hair conditions. Tragically an undiagnosed cardiomyopathy caused unexpected sudden death. The case is discussed with reference to a number of dermatological and oral conditions which were considered as possible(More)
Juvenile xanthogranuloma (JXG) is rarely associated with either hemophagocytic lymphohistiocytosis (HLH) or juvenile myelomonocytic leukemia (JMML) and when in association with the latter there is usually neurofibromatosis type 1. We report a child who presented with JXG and HLH during the neonatal period and who subsequently developed JMML during early(More)