Ichthyosis, Brittle Hair, Impaired Intelligence, Decreased Fertility and Short Stature (IBIDS Syndrome)-A Case Report and Review of the Literature

魚鱗癬，脆弱毛髮，智能障礙，低生育力和短小體格（IBIDS徵候群）－病例報告和文獻回顧

林起翎(Chi-Ling Lin) ； 陳國熏(Gwo-Shing Chen)

《中華皮膚科醫學雜誌》 25卷3期 (2007/09) Pp. 236-241

https://doi.org/10.29784/DS.200709.0011

摘要

IBIDS是一個合併魚鱗癬，脆弱毛髮，智能不足，低生育力和矮小體格的徵候群。它是髮硫失養症的亞型。我們發現一位十一歲女童患有符合IBIDS徵候群之臨床特徵。她有先天性魚鱗癬，脆弱毛髮，智能障礙，可能降低的生育能力，矮小體格和典型的臉部特徵一下顎過小和突出的耳朵。她的頭髮異常為在光學顯微鏡下似毛髮分段之表現，並在偏光顯微鏡下呈現交替帶狀型態。我們在此提出一個病例報告以及相關文獻回顧。

並列摘要

IBIDS is a syndrome characterized by ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature. It is a subtype of trichothiodystrophy. We presented an 11-year-old girl whose clinical features fit into the IBIDS syndrome. She had congenital ichthyosis, brittle hair, intellectual impairment, possibly decreased fertility, short stature and the typical facial features of micrognathia and prominent ears. The hair showed a trichoschisis-like pattern at light microscopy and alternate banding at polarizing microscopy. Herein, we report a case and review available literatures.

並列關鍵字

IBIDS syndrome ； Trichothiodystrophy ； Trichoschisis ； Brittle hair ； Congenital ichthyosis