title: Lipoid proteinosis in a Chinese patient.
abstract: Lipoid proteinosis is a rare autosomal recessive deposition disorder due to loss-of-function mutations in the gene encoding extracellular matrix protein 1 on chromosome 1q21. There are limited case reports of lipoid proteinosis in the Chinese population. The authors report 1 case of lipoid proteinosis in a Chinese patient with typical clinical and histopathological manifestations. Physical examination in this patient demonstrated hoarse voice, hypertrophy of tongue and lips, inability to fully protrude the tongue, and cutaneous features including moniliform blepharosis, verrucous plaques, and scarring. Biopsies from the eyelid, pharyngeal mucosa, and elbow lesions revealed diffuse amorphous deposits of hyaline material within the dermis and around blood vessels, which stained positively for periodic acid-Schiff, was diastase resistant and stained negatively on Congo red.
authors: *Department of Dermatology, Wenzhou Central Hospital, Wenzhou, China; and †National Skin Centre, Singapore, Singapore.
authors: Xian-Ting
authors: XT
authors: Xu
authors: Qiping
authors: Q
authors: Chen
authors: Joyce
authors: J
authors: Siong-See Lee
mesh_terms: D044466:Asian People; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000473:pathology*; D008297:Male; D055815:Young Adult