Extraordinary Case ReportLipoid Proteinosis in a Chinese PatientXu, Xian-Ting MBBS*; Chen, Qiping MBBS, MRCP, MSc†; Siong-See Lee, Joyce MBBS, MRCP, FAMS†Author Information *Department of Dermatology, Wenzhou Central Hospital, Wenzhou, China; and †National Skin Centre, Singapore, Singapore. Reprints: Qiping Chen, MBBS, MRCP, MSc, National Skin Centre, 1 Mandalay Rd, Singapore 308205, Singapore (e-mail: [email protected]). The authors declare no conflicts of interest. The American Journal of Dermatopathology: June 2014 - Volume 36 - Issue 6 - p e108-e113 doi: 10.1097/DAD.0000000000000006 Buy Metrics 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. © 2014 by Lippincott Williams & Wilkins.