Haftek M, Cambazard F, Dhouailly D, Réano A, Simon M, Lachaux A, Serre G, Claudy A, Schmitt D
INSERM U.346/CNRS, E. Herriot Hospital, Lyon, France.
Br J Dermatol. 1996 Sep;135(3):448-53.
Over the past 8 years, we have followed a child born as a harlequin baby, who survived due to treatment with retinoids. His condition evolved clinically towards the erythrodermic form of lamellar ichthyosis (non-bullous congenital ichthyosiform erythroderma, NBCIE). According to ultrastructural and biochemical criteria, our patient originally presented with type II harlequin ichthyosis. Investigations showed an abnormal keratinosome structure and extrusion, a keratin pattern characteristic for epidermal hyperproliferation, and an absence of conversion of profilaggrin to filaggrin. Persisting keratinocyte hyperproliferation, associated with the presence of a dermal infiltrate, is in agreement with the present clinical picture of severe NBCIE. However, abnormal lamellar body production and defective filaggrin processing, which is not one of the diagnostic criteria of NBCIE, persist in the patient's skin. Further studies of the epidermal lipid composition, and of possible mutations of the keratinocyte transglutaminase gene performed on epidermal cell cultures of harlequin ichthyosis, will be necessary before type II harlequin ichthyosis can be accepted as an extremely severe form of NBCIE.
在过去8年里，我们一直在跟踪观察一名出生时患有丑角样鱼鳞病的患儿，该患儿因使用维甲酸治疗而存活。其病情在临床上逐渐发展为板层状鱼鳞病的红皮病型（非大疱性先天性鱼鳞病样红皮病，NBCIE）。根据超微结构和生化标准，我们的患者最初表现为II型丑角样鱼鳞病。研究显示角质小体结构和排出异常、表皮过度增殖特征性的角蛋白模式以及前丝聚合蛋白向丝聚合蛋白的转化缺失。持续存在的角质形成细胞过度增殖，伴有真皮浸润，与目前严重NBCIE的临床表现相符。然而，异常的板层小体产生和有缺陷的丝聚合蛋白加工（这并非NBCIE的诊断标准之一）在患者皮肤中持续存在。在II型丑角样鱼鳞病能够被认定为NBCIE的一种极其严重的形式之前，有必要对丑角样鱼鳞病的表皮细胞培养物进行进一步的表皮脂质成分研究以及角质形成细胞转谷氨酰胺酶基因可能的突变研究。
