Papini M, Calandra P, Calvieri S, Laureti S, Casucci G
Clinica Dermatologica R, Università di Perugia, Terni, Italia.
Dermatology. 1994;188(1):25-7. doi: 10.1159/000247080.
X-linked adrenoleucodystrophy (ALD) is a rare disorder of the very-long-chain fatty acid (VLCFA) metabolism. Cutaneous findings observed in a 29-year-old man included patchy non-cicatricial alopecia of the scalp, intense oily seborrhoea of the head, mild dry-scaling ichthyosis-like appearance of the trunk and legs and pseudo-acanthosis nigricans of the folds. Scanning electron-microscopic examination of the scalp hair showed trichorrhexis-nodosa-like fractures and several structural anomalies of the hair shaft. The skin surface lipid profile showed a marked increase in lignoceric acid (C24:0) which comprised over 60% of the fatty acid detectable in the fractions of triglycerides, diglycerides and free fatty acids. This behaviour of the VLCFA in the surface lipids corresponds to that observed in the plasma. If this finding were confirmed, the investigation of surface lipid composition could represent a useful non-invasive technique for the study of ALD.
X连锁肾上腺脑白质营养不良（ALD）是一种极长链脂肪酸（VLCFA）代谢的罕见疾病。一名29岁男性的皮肤表现包括头皮片状非瘢痕性脱发、头部严重油性脂溢、躯干和腿部轻度干性鳞屑性鱼鳞病样外观以及褶皱处假性黑棘皮病。头皮毛发的扫描电子显微镜检查显示结节状脆发样骨折和毛干的几种结构异常。皮肤表面脂质谱显示二十四烷酸（C24:0）显著增加，其在甘油三酯、甘油二酯和游离脂肪酸组分中可检测到的脂肪酸中占比超过60%。VLCFA在表面脂质中的这种行为与在血浆中观察到的一致。如果这一发现得到证实，表面脂质成分的研究可能代表一种用于ALD研究的有用非侵入性技术。
