Glover M T, Lake B D, Atherton D J
Department of Dermatology, Hospital for Sick Children, London, England.
Pediatrics. 1991 Feb;87(2):228-34.
Four infants with stiff skin and painful joint contractures in the first few months of life are described. Other features included small papules, particularly on the face and trunk, perianal nodules, hyperpigmentation over the metacarpophalangeal joints and over the malleoli, gingival hyperplasia, persistent diarrhea, and failure to thrive. Two of these infants died before the age of 18 months. In each case hyaline material was found in the papillary dermis. Ultrastructurally, there was a distinctive fibrillogranular appearance in which a banding pattern could be observed. This material was also found within membrane-bound vacuoles in macrophages and fibroblasts. It had an appearance and localization identical with that of collagen type VI. These features are similar to those reported in juvenile hyaline fibromatosis. It is believed that these infants have a closely related, but nonetheless distinctive, inherited disorder of collagen.
本文描述了4例在出生后最初几个月出现皮肤僵硬和疼痛性关节挛缩的婴儿。其他特征包括小丘疹，尤其是在面部和躯干，肛周结节，掌指关节和踝关节处色素沉着，牙龈增生，持续性腹泻和生长发育迟缓。其中2例婴儿在18个月前死亡。在每例中，乳头真皮层均发现透明物质。超微结构显示，有一种独特的纤维颗粒外观，可观察到条带模式。这种物质也存在于巨噬细胞和成纤维细胞的膜结合空泡内。其外观和定位与VI型胶原相同。这些特征与青少年透明纤维瘤病中报道的特征相似。据信，这些婴儿患有一种密切相关但又有明显差异的遗传性胶原疾病。
