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Year : 2021  |  Volume : 14  |  Issue : 3  |  Page : 196-197  

Urbach–wiethe disease: Hyalinosis cutis et mucosae

Orbit, Oculoplasty, Reconstructive and Aesthetic Services, Sankara Nethralaya, Medical Research Foundation, Chennai, Tamil Nadu, India

Date of Submission26-Jan-2021
Date of Decision20-Apr-2021
Date of Acceptance23-Apr-2021
Date of Web Publication20-Oct-2021

Correspondence Address:
Dr. Prabrisha Banerjee
Oculoplasty, Reconstructive and Aesthetic Services, Sankara Nethralaya, Medical Research Foundation, Chennai, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ojo.ojo_29_21

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Urbach-Wiethe Disease is an uncommon entity with autosomal recessive inheritance. We describe the clinical and histopathological findings of lipoid proteinosis in this clinical image. Cicatricial alopecia, atrophic scar on face, moniliform blepharosis and alopecia are the characteristic features of this disease entity. Hoarseness of voice and seizure can also be seen in these patients. Skin biopsy confirms the diagnosis. Multidisciplinary involvement is recommended for the management of these cases.

Keywords: Lipoid proteinosis, moniliform blepharosis, Urbach-Wiethe disease

How to cite this article:
Banerjee P, Mukherjee B. Urbach–wiethe disease: Hyalinosis cutis et mucosae. Oman J Ophthalmol 2021;14:196-7

How to cite this URL:
Banerjee P, Mukherjee B. Urbach–wiethe disease: Hyalinosis cutis et mucosae. Oman J Ophthalmol [serial online] 2021 [cited 2022 Dec 10];14:196-7. Available from: https://www.ojoonline.org/text.asp?2021/14/3/196/328606

Urbach–Wiethe disease or lipoid proteinosis is a rare, autosomal recessive disease with dermatological, ocular, laryngeal and neurological manifestations. It is caused by the mutation of the extracellular-matrix protein-1 gene on chromosome 1q21 which results in the deposition of eosinophilic hyaline material in the tissues.[1]

A 10-year-old boy presented to us with a history of multiple small blister-like lesions over his face and limbs with beading of the eyelid margins since 4 months of age. He also gave a history of speech therapy for hoarseness of voice. There was no history of seizures. The family - history was not contributory. On inspection, cicatricial alopecia over the scalp [Figure 1]a, multiple atrophic facial scars [Figure 1]b, and multiple beaded pearly papules on the eyelid margins [Figure 1]c were noted. The rest of the ocular examination was unremarkable. Skin biopsy revealed a deposition of periodic acid–Schiff-positive hyaline material [Figure 1]d. Sulcus vocalis was confirmed on videolaryngoscopy. The skull x-ray did not show any intracranial calcifications.
Figure 1: (a) Patchy alopecia over the scalp. (b) Pock-like scars on the face which appear as blisters and erosions in early childhood and eventually become scars. (c) Beaded papules over the eyelid and caruncle which resemble a string of pearls (moniliform blepharosis). (d) Photomicrograph (H and E, ×40) showing hyaline deposits in the dermis

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Lipoid proteinosis presents with the aforementioned features. Ophthalmic manifestations due to structural abnormalities include keratoconus, cataract, and lens subluxation while hyaline deposition in the lacrimal gland, iris, trabecular meshwork, and Bruch's membrane leads to dry eye, uveitis, glaucoma, and macular degeneration. Moreover, scars secondary to eyelid lesions can result in trichiasis.[2] Nasolacrimal duct obstruction and peri-punctal verrucous lesion are the lacrimal drainage disorder associated with lipoid proteinosis.[2],[3],[4]

Prosthetic replacement of the ocular surface ecosystem has been found to be useful in keratoconus associated with eyelid lesions. Secondary open-angle glaucoma is managed with intraocular pressure-lowering agents and/or filtering surgery. Topical steroids and cycloplegics are indicated in active inflammation associated with this condition. There are reports of management of lens subluxation with lensectomy.[2],[3],[5] Patients with lipoid proteinosis are frequently misdiagnosed due to the rarity of the condition. A multidisciplinary approach involving a team of dermatologists, otorhinolaryngologists, and neurologists is recommended for the management of these cases.[3],[4]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

   References Top

Kamath SJ, Marthala H, Manapragada B. Ocular manifestations in lipoid proteinosis: A rare clinical entity. Indian J Ophthalmol 2015;63:793-5.  Back to cited text no. 1
[PUBMED]  [Full text]  
Callizo M, Ibáñez Flores N, Laue J, Cuadrado V, Graell X, Sancho J. 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. 2
Mukherjee B, Devi PN. Lipoid proteinosis: A rare entity. Indian J Ophthalmol 2015;63:680-1.  Back to cited text no. 3
[PUBMED]  [Full text]  
Ali MJ, Mishra DK, Naik MN. Punctal and peri-punctal involvement in Urbach-Wiethe syndrome: Case report and review of literature. Orbit 2019;38:474-6.  Back to cited text no. 4
Acar U, Yildiz EH, Yuksel D, Ustun H, Unlu N. Keratoconus in a case of lipoid proteinosis. Eye Contact Lens 2013;39:e25-7.  Back to cited text no. 5


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