- 期刊
Recurrent Inflammation of Incontinentia Pigmenti in a 30-year-old Woman
復發性色素失調症於－30歲女性－病例報告與文獻回顧
摘要
色素失調症是一種性聯顯性遺傳的疾病，臨床表現可能會侵犯多重器官系統。典型的皮膚表現發生在周產期並可區分為四個階段：發炎水泡（第一期），疣狀增生（第二期），色素沉著（第三期）和疤痕形成（第四期），而這些病灶都沿著Blaschko's line分布。它代表了女性患者身上一種嵌合型X染色體異常的現象。一般而言，第一階段的病灶在周產期時出現並在四個月大之前消退。我們在此報告一個罕見在成人時期復發的色素失調症病例。這是一個過去有色素失調症病史的30歲女性，在沿著 Blaschko's line分布的深色斑塊上出現多個紅色丘疹。組織學上顯示表皮有角化不良現象，伴隨真皮層中出現血管周圍及組織間隙中有淋巴球及嗜伊紅性白血球浸潤。結合病史、臨床與病理表現，此病例被診斷為復發性色素失調症。此外，我們也回顧過去文獻上所報告過的復發性病例。
關鍵字
無資料並列摘要
Incontinentia pigmenti (IP) is an X-linked dominant disorder with a complex multisystemic and developmental phenotype. Classically, the skin lesions occur perinatally in four successive stages: inflammatory vesicular (stage 1), verrucous (stage 2), hyperpigmented (stage 3), and scarring (stage 4), along the lines of Blaschko, reflecting the somatic mosaicism of X-chromosome inactivation in female patients. In general, the lesions of stage 1 IP begin perinatally and clear completely within the age of 4 months. We report a rare case of late recurrence of first stage lesions of IP in adulthood. This 30-year-old woman with a history of IP presented with multiple erythematous papules on pigmented patches distributing along the lines of Blaschko. Histological findings exhibited dyskeratosis in the epidermis along with perivascular and interstitial infiltrations composed of lymphocytes and eosinophils, consisting with the diagnosis of IP. In addition, we also review the recurrent cases with IP previously reported in the literature.