PDF(Pubmed)
Abstract：
A rare autosomal recessive condition called infantile systemic hyalinosis (ISH) is characterized by early-onset skin lesions that progress to the formation of numerous contractures. The underlying disease is the progressive accumulation of hyaline substances in many tissues. We are presenting the case of a male infant who was referred for evaluation and management at the age of six months. The infant had a history of recurrent episodes of diarrhea and showed limited movement in all four limbs. Upon physical examination, hyperpigmented papulonodular lesions on bony prominences and perianal regions were found, coupled with contractures in the elbow and knee joints. Hyaline deposition in the mid-dermal region was confirmed by histopathological analysis of a skin biopsy sample. The baby also had acute otitis media, which needed to be treated with antibiotics. Parents were counseled regarding the disease\'s diagnosis, complications, prognosis, and inheritance pattern. This case highlights the clinical presentation, diagnostic process, and management strategies employed in the care of ISH, emphasizing the importance of early recognition and multidisciplinary management in mitigating its devastating effects.
摘要：
一种罕见的常染色体隐性遗传疾病，称为婴儿全身性透明透明病（ISH），其特征是早发性皮肤病变，可发展为形成多种挛缩。潜在的疾病是透明物质在许多组织中的进行性积累。我们正在介绍一名男婴的案例，该男婴在六个月大时被转介接受评估和管理。婴儿有反复发作的腹泻史，四肢活动受限。在体检时,在骨突起和肛周区域发现色素沉着的丘疹结节病变，再加上肘关节和膝关节挛缩.通过皮肤活检样品的组织病理学分析证实了真皮中部区域的透明色素沉积。这个婴儿还得了急性中耳炎,需要用抗生素治疗。父母被告知疾病的诊断，并发症,预后,和继承模式。这个案例突出了临床表现，诊断过程,以及在ISH护理中采用的管理策略，强调早期识别和多学科管理在减轻其破坏性影响方面的重要性。
