Congenital anomaly syndromes manifesting overgrowth are rare, and only a small number of recognized or defined conditions are known to be associated with overgrowth. Some of them are related to genomic imprinting as a genetic cause. We report a girl who showed pre- and postnatal overgrowth who was found to have a 2.3-Mb deletion of 9q22.32 involving PTCH1, the gene responsible for Gorlin syndrome (nevoid basal cell carcinoma syndrome), by array-comparative genomic hybridization analysis. Clinical re-evaluation according to the diagnostic criteria was performed after identification of the PTCH1 deletion, and the patient was then diagnosed as having Gorlin syndrome. Further delineation involved unusual features including cerebellar dysplasia, an ectopic meninx on her shoulder, and an intraorbital hemangioma. Overgrowth is not a common finding in Gorlin syndrome. We reviewed 23 patients reported to have a 9q22 deletion. Five patients, including our patient, had overgrowth and loss of the paternal allele.
A 29 year‐old woman who developed generalized erythematous eruptions after oral treatment with predonisolone tablets for facial dermatitis is described. Patch tests showed a positive reaction to both predonisolone tablets diluted in cream and a commercial predonisolone ointment. After oral challenges with 5mg predonisolone in tablet form and 4mg predonisolone powder, similar eruptions reappeared the next day. In both patch and dose testing with many kinds of corticosteroids, the patient showed a cross‐sensitivity to methyl‐predonisolone and its acetate only.
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