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Year : 2015  |  Volume : 63  |  Issue : 8  |  Page : 680-681

Lipoid proteinosis: A rare entity

Department of Orbit, Oculoplasty, Reconstructive and Aesthetics, Sankara Nethralaya, Medical Research Foundation, Chennai, Tamil Nadu, India

Date of Submission26-Jun-2014
Date of Acceptance10-Jun-2015
Date of Web Publication17-Nov-2015

Correspondence Address:
Pratheeba N Devi
Department of Orbit, Oculoplasty, Reconstructive and Aesthetics, Sankara Nethralaya, Medical Research Foundation, No. 18, College Road, Chennai - 600 006
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0301-4738.169791

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Urbach–Wiethe syndrome or lipoid proteinosis is a rare autosomal recessive disorder characterized histologically by infiltration of Periodic acid Schiff-positive hyaline material in the skin, upper aerodigestive tract, eyelids, and internal organs. Classical clinical features include scarring of the skin, beaded eyelid papules (moniliform blepharosis) and laryngeal infiltration leading to hoarseness of voice. Lipoid proteinosis can lead to life-threatening conditions such as acute respiratory distress and seizures. Awareness among ophthalmologists about this rare entity is crucial for appropriate management of these patients.

Keywords: Lipoid proteinosis, moniliform blepharosis, Urbach–Wiethe syndrome

How to cite this article:
Mukherjee B, Devi PN. Lipoid proteinosis: A rare entity. Indian J Ophthalmol 2015;63:680-1

How to cite this URL:
Mukherjee B, Devi PN. Lipoid proteinosis: A rare entity. Indian J Ophthalmol [serial online] 2015 [cited 2023 Dec 11];63:680-1. Available from: https://journals.lww.com/ijo/pages/default.aspx/text.asp?2015/63/8/680/169791

Urbach–Wiethe syndrome (UWS), also known as lipoid proteinosis or hyalinosis cutis et mucosae is caused by abnormal deposition of Periodic acid Schiff (PAS) positive hyaline material in the skin, mucous membranes, and internal organs. Beaded papules (moniliform blepharosis) and hoarseness of the voice are the striking features of the disease. These are sometimes mistaken for leukoplakia. We report this case of biopsy proven lipoid proteinosis for its rarity and the absence of central nervous system involvement.

  Case Report Top

A 32-year-old male came to us with complaints of cystic lesions in both lids [Figure 1], [Figure 2]a and [Figure 2]b. He was diagnosed to have lipoid proteinosis elsewhere and was completely screened for systemic involvement. His urine electrophoresis showed elevated albumin, serum uric acid, and alanine transaminase. Computed tomography brain was normal. A buccal mucosal biopsy taken elsewhere showed deposition of PAS-positive hyaline material [Figure 3]. Slides were reviewed in our center, and the diagnosis was reconfirmed. His best corrected visual acuity in both eyes was 20/20; n6. There were verrucous lesions in both upper and lower lids with cauliflower shaped lesion in the lower puncta of both eyes. He had cutaneous lesions also. Fundus examination was within normal limits. Schirmer's in both eyes were within normal limits. He had tongue fissures and hoarseness of voice. He was advised to undergo excision of the lesion over the puncta. The patient was lost to follow-up after that.
Figure 1: External photograph of the eye

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Figure 2: External photograph closer view (a) upper lid (b) lower lid

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Figure 3: Histopathology picture depicting PAS positive hyaline material

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  Discussion Top

UWS is an autosomal recessive disorder,[1] first described by Urbach and Wiethe in 1929. This disorder is extremely rare. So far, not more than 300 patients have been diagnosed with UWS.[2],[3] The incidence of hyalinosis cutis et mucosae seems to be fairly high in South Africa.[4] It is a multi-system disease caused due to mutations in the gene encoding extracellular matrix protein 1 on chromosome 1q21.[5],[6]

It is mostly an incidental diagnosis. High clinical suspicion with tissue biopsy gives clue to the diagnosis. We did not find any specific criteria for diagnosis in the literature.

Hoarseness of voice is reported to be the first manifestation of lipoid proteinosis. It was the first presentation in our patient also. Our patient had tongue fissures. Skin lesions generally appear as nodules on the face, lips (at earlier stages), and later become hyperkeratotic.[7]

The lacrimal gland can be infiltrated with hyaline material and can cause dry eyes. Schirmer's test in both eyes was normal suggesting no involvement of lacrimal gland in our case. Various ocular manifestations such as dry eyes, open angle glaucoma, drusen in the macula, retinitis pigmentosa, uveitis and subluxation of the lens has been reported along with lipoid proteinosis.[7] However, our patient had no abnormality in his eyes.

The most common radiological hallmark is the presence of bean or comma shaped intracranial calcifications in the temporal lobes in the amygdala, which is more evident in the patients who have lipoid proteinosis for a long duration.[8] Patients with neurological manifestations present with a migraine, seizures, mental retardation, anxiety, depression, and panic attacks. Our patient did not have any neurological manifestations.[9]

This disease can diminish the quality of life. It requires a multidisciplinary approach. There is no permanent cure for lipoid proteinosis. Medical treatment for the skin lesions has been reported previously by several authors.[10] Callizo et al. have suggested better results with surgical removal of the eyelid lesions. However, the majority of those treatments were based on single case reports.[11]

  Conclusion Top

Though rare, systemic manifestations of lipoid proteinosis include life-threatening situations like acute respiratory distress or seizures. Awareness among ophthalmologists about this rare entity is crucial for appropriate management of these patients.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Sharma V, Kashyap S, Betharia SM, Gupta S, Pathak H. Lipoid proteinosis: A rare disorder with pathognomonic lid lesions. Clin Experiment Ophthalmol 2004;32:110-2.  Back to cited text no. 1
Irkeç M, Orhan M, Orhan D, Durgun B, Can C. Dry eye syndrome associated with Urbach-Wiethe disease. J Pediatr Ophthalmol Strabismus 1996;33:265-8.  Back to cited text no. 2
Di Giandomenico S, Masi R, Cassandrini D, El-Hachem M, De Vito R, Bruno C, et al. Lipoid proteinosis: Case report and review of the literature. Acta Otorhinolaryngol Ital 2006;26:162-7.  Back to cited text no. 3
Scott FP, Findlay GH. Hyalinosis cutis et mucosae (lipoid proteinosis). S Afr Med J 1960;34:189-95.  Back to cited text no. 4
Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 2002;11:833-40.  Back to cited text no. 5
Puja G, Bipasha M. Lipoid proteinosis: A rare clinical entity. Indian J Pathol Microbiol 2012;55:415-6.  Back to cited text no. 6
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Abtahi SM, Kianersi F, Abtahi MA, Abtahi SH, Zahed A, Fesharaki HR, et al. Urbach-Wiethe syndrome and the ophthalmologist: Review of the literature and introduction of the first instance of bilateral uveitis. Case Rep Med 2012;2012:281516.  Back to cited text no. 7
Kachewar SG, Kulkarni DS. A novel association of the additional intracranial calcification in lipoid proteinosis: A case report. J Clin Diagn Res 2012;6:1579-81.  Back to cited text no. 8
Gonçalves FG, de Melo MB, de L Matos V, Barra FR, Figueroa RE. Amygdalae and striatum calcification in lipoid proteinosis. AJNR Am J Neuroradiol 2010;31:88-90.  Back to cited text no. 9
Bakry OA, Samaka RM, Houla NS, Basha MA. Two Egyptian cases of lipoid proteinosis successfully treated with acitretin. J Dermatol Case Rep 2014;8:29-34.  Back to cited text no. 10
Callizo M, Ibáñez-Flores N, Laue J, Cuadrado V, Graell X, Sancho JM. Eyelid lesions in lipoid proteinosis or Urbach-Wiethe disease: Case report and review of the literature. Orbit 2011;30:242-4.  Back to cited text no. 11


  [Figure 1], [Figure 2], [Figure 3]

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