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BRIEF COMMUNICATION
Year : 2015  |  Volume : 63  |  Issue : 10  |  Page : 793-795

Ocular manifestations in lipoid proteinosis: A rare clinical entity


Department of Ophthalmology, Kasturba Medical College, Mangalore, Karnataka, India

Date of Submission23-Mar-2015
Date of Acceptance03-Sep-2015
Date of Web Publication10-Dec-2015

Correspondence Address:
Dr. HimaBindu Marthala
Department of Ophthalmology, Kasturba Medical College, Mangalore - 575 004, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0301-4738.171517

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  Abstract 

Lipoid proteinosis is a rare autosomal recessive genodermatosis with abnormal lipid protein complexes deposition in different parts of the body, especially in the skin and mucus membranes of the upper aerodigestive tract. Though ocular involvement in lipoid proteinosis is rare, ophthalmologists may encounter diverse ocular complications accompanying this syndrome in clinical practice. We describe a case of lipoid proteinosis involving bilateral eyelids with pathognomonic moniliform blepharosis in a 33-year-old gentleman who presented with the complaints of itching of eye lids on and off since 10 years.

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


How to cite this article:
Kamath SJ, Marthala H, Manapragada B. Ocular manifestations in lipoid proteinosis: A rare clinical entity. Indian J Ophthalmol 2015;63:793-5

How to cite this URL:
Kamath SJ, Marthala H, Manapragada B. Ocular manifestations in lipoid proteinosis: A rare clinical entity. Indian J Ophthalmol [serial online] 2015 [cited 2020 Jun 2];63:793-5. Available from: http://www.ijo.in/text.asp?2015/63/10/793/171517

Lipoid proteinosis, also known as Urbach-Wiethe syndrome or hyalinosis cutis et mucosae, first described by a dermatologist Urbach and an otolaryngologist Wiethe in 1929. It is a rare autosomal recessive multisystem disorder with dermatological, otorhinolaryngological, ocular, and neurological manifestations due to mutation of extracellular-matrix protein-1 gene located on chromosome 1q21. [1] It is characterized by the deposition of an amorphous hyaline material with a glycoprotein constitution in various tissues in the body mainly the larynx, skin, and tongue. [2] Though this entity has been well known to dermatologists and otorhinolaryngologists, few reports have appeared in the ophthalmic literature with the eyelids involvement in the majority of the cases. [2],[3] We describe a case of lipoid proteinosis involving bilateral eyelids with pathognomonic moniliform blepharosis in a 33-year-old gentleman who presented with the complaints of itching of eyelids on and off since 10 years.


  Case Report Top


This study conforms to the principles outlined in the Declaration of Helsinki and was conducted after obtaining approval from the Institutional Ethics Committee on Human Research and informed written consent from the patient.

A 33-year-old gentleman presented to our outpatient department with complaints of itching of eyelids in both eyes on and off since 10 years. On ophthalmic examination, unaided visual acuity was 20/20 in both eyes, anterior segment examination revealed rows of yellow-white color, round or oval, bead-like excrescences on the margins of all four lids and the caruncle, resembling a string of pearls, the pathognomonic, moniliform blepharosis [Figure 1] and [Figure 2]. The lesions were continuous, overlying the entire lid margin and obscuring the details of the lid margin with thickening of the free ends of the lids considerably. Rest of the anterior segment examination was otherwise normal including intraocular pressure measurement. Fundus evaluation of both eyes was within normal limits. Systemic examination revealed thickened and hard tongue with teeth indentations [Figure 3], hoarseness of voice, multiple small yellow-colored soft and partially translucent nodules over the skin in bilateral axilla [Figure 4], and normal neurological and psychiatric evaluation. Otorhynolaryngologist's evaluation for hoarseness of voice showed thickening and irregularities of the vocal cords' mucosa on laryngoscopy. Similar clinical features including pathognomonic moniliform blepharosis and hoarseness of voice were noted in his sibling who was asymptomatic. Baseline laboratory data including biochemical and hematological parameters were within normal limits. Biopsy of the axillary skin lesions performed by a dermatologist was consistent with the histopathological diagnosis of lipoid proteinosis. The patient has been managed with artificial tear supplements and antihistamine eye drops with the symptomatic improvement of ocular manifestations within 4 weeks' time. He has been further advised and counseled regarding the chronic nature of the disease, other ocular manifestations, multisystem involvement, and the need for follow-up under a multidisciplinary team of specialists including ophthalmologist, dentist, dermatologist, otorhynolaryngologist, and neurologist.
Figure 1: Lipoid proteinosis involving eyelids

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Figure 2: Lipoid proteinosis involving eyelids showing pathognomonic moniliform blepharosis

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Figure 3: Lipoid proteinosis involving oral mucosa and tongue

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Figure 4: Lipoid proteinosis involving axillary skin

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  Discussion Top


Lipoid proteinosis usually starts in infancy or early childhood due to the involvement of upper aerodigestive tract mucosa with hoarseness of voice as presenting feature, may be accompanied by swelling of the tongue and lips, with associated difficulty in swallowing and respiratory distress in some cases. [4] Next, in sequence occurs a skin rash, involving the face, scalp, and trunk with a thickened, pale yellow-brown, pock marked appearance of the lesions. [5] It may also involve axilla as seen in our case or the extensor surfaces (elbows and knees) with marked hyperkeratosis in response to minor trauma. Neurological manifestations include longstanding memory impairment, paranoia, rage attacks, mental retardation, and temporal lobe epilepsy. [6]

Though ocular manifestations in lipoid proteinosis are rare, they were described since early descriptions of the disease. Along with moniliform blepharosis as a pathognomonic feature of the disease as seen in our case, an ophthalmologist may encounter other manifestations of lipoid proteinosis in any part of the eye such as cornea, conjunctiva, sclera, trabecular meshwork, iris/pupil, lens and zonular fibers, retina, and nasolacrimal duct. In general, the most common ocular lesions include eyelid lesions, as mentioned before; classic presentation of such lesions is called moniliform blepharosis, which is generally believed to be one of the most pathognomonic features of lipoid proteinosis. [7] This hallmark presents as tiny papules on eyelid margins such as a string of yellowish and waxy beads [Figure 1] and [Figure 2] as seen in our case and is particularly known as a strong diagnostic clue. Apart from the diagnostic value, lid lesions are reported to accompany infiltration of glands of Zeiss, Moll, and Meibomian and consequently cause madarosis, trichiasis, and sometimes distichiasis. Another frequent finding is focal degeneration of macula and drusen formation in Bruch's membrane in about 30-50% patients. [7]

Uncommon ocular manifestations of lipoid proteinosis [7] include glaucoma (either due to deposition of hyaline inclusions in the trabecular meshwork or due to hyalinization of scleral trabeculum with deposition of glycoproteins), lens-related complications (cataract or lens dislocation or subluxation), [8] retinal complications (the concomitancy of retinitis pigmentosa, impaired color vision, and light hypersensitivity), corneal manifestations (corneal ulceration caused by trichiasis, corneal opacities, keratoconus [9] as well as the deposition of hyaline on the cornea, especially at Descemet's membrane), iris- and pupil-related complications, unilateral or bilateral uveitis, dry eye or epiphora, nasolacrimal duct obstruction, and transient blindness.

As lipoid proteinosis runs a chronic, benign but progressive course, no effective treatment is known. In most of the cases, management is guided toward the type of ocular manifestation with symptomatic improvement in clinical condition. As in our case, eyelid lesions are managed with artificial tear supplements and antihistamine eye drops and may involve surgical removal and CO 2 laser therapy in some cases. [10] Patients have been further advised and counseled regarding the chronic nature of the disease, diverse ocular manifestations, multisystem involvement, and the need for follow-up under a multidisciplinary team of specialists including ophthalmologist, dentist, dermatologist, otorhynolaryngologist, and neurologist.


  Conclusion Top


Though ocular manifestations in lipoid proteinosis are rare, ophthalmologists may encounter diverse ocular complications as mentioned above, leading them for a more effective role in diagnosing and managing individuals with this disease as a part of a multidisciplinary team of physicians.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Kabre V, Rani S, Pai KM, Kamra S. Lipoid proteinosis: A review with two case reports. Contemp Clin Dent 2015;6:233-6.  Back to cited text no. 1
[PUBMED]  Medknow Journal  
2.
Deshpande P, Guledgud MV, Patil K, Hegde U, Sahni A, Huchanahalli Sheshanna S. Lipoid proteinosis: A rare encounter in dental office. Case Rep Dent 2015;2015:670369.  Back to cited text no. 2
    
3.
Rao RS, Betkerur SS, Babu C, Sudha V. Lipoid proteinosis. J Oral Maxillofac Pathol 2009;13:81-4.  Back to cited text no. 3
[PUBMED]  Medknow Journal  
4.
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. 4
    
5.
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. 5
    
6.
Emsley RA, Paster L. Lipoid proteinosis presenting with neuropsychiatric manifestations. J Neurol Neurosurg Psychiatry 1985;48:1290-2.  Back to cited text no. 6
[PUBMED]    
7.
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
    
8.
Mandal S, Dutta P, Venkatesh P, Sinha R, Kukreja M, Garg S. Bilateral lens subluxation in a case of lipoid proteinosis. J Cataract Refract Surg 2007;33:1469-70.  Back to cited text no. 8
    
9.
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. 9
    
10.
Rosenthal G, Lifshitz T, Monos T, Kachco L, Argov S. Carbon dioxide laser treatment for lipoid proteinosis (Urbach-Wiethe syndrome) involving the eyelids. Br J Ophthalmol 1997;81:253.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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