Burck U, Moser H W, Goebel H H, Grüttner R, Held K R
Eur J Pediatr. 1985 Jan;143(3):203-8. doi: 10.1007/BF00442139.
A 20-month-old girl showed typical clinical signs of Farber disease: hoarseness since birth, and periarticular subcutaneous painful nodules. Complete deficiency of acid ceramidase activity was found in cultured skin fibroblasts. An electron microscopic examination of a dermal nodule disclosed pathognomonic tubular inclusions in histiocytes. In epidermal cells zebra-body-like and needle-like lysosomal inclusions were found. Their ultrastructure is different from that of the intrahistiocytic lysosomal inclusions. Probably three clinical types of Farber disease may be distinguished according to the symptomatology and the course of the disease: a severe type, an intermediate type and a relatively mild type. The activity of acid ceramidase does not correlate with prognosis of the disease, while a correlation between first appearance of dermal nodules and clinical course appears likely.
一名20个月大的女孩表现出法伯病的典型临床症状：自出生起声音嘶哑，关节周围皮下疼痛性结节。在培养的皮肤成纤维细胞中发现酸性神经酰胺酶活性完全缺乏。对一个皮肤结节进行电子显微镜检查发现组织细胞中有特征性的管状包涵体。在表皮细胞中发现了斑马体样和针状溶酶体包涵体。它们的超微结构与组织细胞内溶酶体包涵体不同。根据症状和病程，法伯病可能可分为三种临床类型：重型、中型和相对轻型。酸性神经酰胺酶的活性与疾病预后无关，而皮肤结节首次出现与临床病程之间似乎存在关联。
