摘要
點狀軟骨錯生為一少見的遺傳疾病，我們在此作一病例報告。一出生七天的女嬰於山生時即全身出現魚鱗癬樣紅皮症，顏面畸形及兩側上肢呈不對稱短小。皮膚病理切片檢查顯示角質增生，毛囊出口擴大，毛囊角化和角質層鈣化。全身X光檢查顯示肱骨及股骨有不對稱短小，長骨骨端及薦骨出現多處點狀鈣化。吾人診斷此女嬰罹患少見的點狀軟骨錯生。我們在此作一病例報告及文獻回顧。
關鍵字
無資料並列摘要
Chondrodysplasia punctata is an unusual inherited disorder. We report such a case in 7-day-old girl presenting with ichthyosiform erythorderma at birth. The patient also had facial dysmorphism and bilateral asymmetric asymmetric shortening of the upper limbs. A skin biopsy specimen showed hperkeratosis, follicular keratosis in the dilated follicular ostia, and calcium depositis in the stratum corneum. Radiologic examination revealed asymmetric shortening of humeri and femora and mumerous punctuate calcifications in the epiphyss of the long bones and sacrum. This is a rare typical case of chondrodys-plasia punctata.
延伸閱讀
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