Juvenile hyaline fibromatosis and infantile systemic hyalinosis: divergent expressions of the same genetic defect?

We describe here a three year-old girl with classic clinical and histological features of juvenile hyaline fibromatosis. We found a history of similar skin findings in her eldest sister, in whom the disorder took a rapidly progressive and fatal course in the second year of life, suggesting either a very severe form of juvenile hyaline fibromatosis, or the possibility of infantile systemic hyalinosis. The similarities and differences between these two described types of hyalinoses have been reviewed in reference to the present report.

Goldenhar syndrome with unusual features.

We report here the case of a 17 year-old girl with the classic signs of Goldenhar syndrome in the form of multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia) and cervical lordosis. She also had a high arched palate, gingival hypertrophy and malaligned teeth, features which are as yet unreported.

In-vitro lymphocyte toxicity to a phenytoin metabolite in phenytoin induced cutaneous adverse drug eruptions.

BACKGROUND: Phenytoin, one of the most commonly used antiepileptic drug, is associated with a wide spectrum of adverse drug eruptions. It is metabolized by the hepatic microsomal enzymes. The intermediate metabolites are arene oxides which accumulate due to deficiency of the enzyme epoxide hydrolase. These are postulated to be associated with phenytoin induced hepatotoxicity and antiepileptic hypersensitivity syndrome. AIM: We tried to correlate the in vitro lymphocyte toxicity of arene oxide metabolites with phenytoin induced drug eruptions and hence develop it as a predictive test for the same. METHODS: Clinically diagnosed cases of phenytoin induced drug eruptions were selected in this hospital based study. Lymphocytes from the subjects and controls were exposed to the phenytoin metabolites generated by a murine hepatic microsomal system. The toxicity was assayed by trypan blue dye exclusion test. The results were analyzed by a linear orthogonal curve and were compared for the subject and control. RESULTS: The results showed increased toxicity to lymphocytes from the patients when compared to those from controls. The toxicity was directly proportional to the severity of the drug eruption. CONCLUSION: In vitro lymphocyte cytotoxicity to phenytoin metabolites tested in this animal system could possibly predict phenytoin induced drug eruptions.

Evaluation of salt split technique of immunofluorescence in bullous pemphigoid.

Recent studies suggest that salt split skin is a more sensitive substrate than intact skin for immunofluorescence diagnosis of bullous pemphigoid. We undertook this study to define the role of salt split technique of immunofluorescence findings in 32 clinical and histopathology confirmed cases of bullous pemphigoid. Both direct and indirect immunofluorescences were performed using normal and split skin. Direct immunofluorescence positivity of 100% was noted with both routine and salt split method. Additional immunoreactant deposition was noted with direct method on split skin in 5 cases. Patterns of fluorescence in the latter were roof (40.60%), floor (9.4%) and combined roof and floor (50%). On indirect immunofluorescence, positivity was almost doubled with salt split technique ( 68%) as compared to routine method (36%). Thus, salt split technique was equivalent to routine on direct method in positivity with additional immunoreactant deposits noted in some and had double the sensitivity of the indirect method in detecting immunofluorescence in bullous pemphigoid.