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 Table of Contents  
CASE REPORT
Year : 2021  |  Volume : 59  |  Issue : 2  |  Page : 169-171

Ocular involvement in a case of dystrophic epidermolysis bullosa with conjunctival blistering without eyelid or corneal disease: A rare case report


1 Department of Comprehensive Ophthalmology, Sri Sankaradeva Nethralaya, Guwahati, Assam, India
2 Department of Ocular Pathology, Uveitis and Neuroophthalmology Services, Sri Sankaradeva Nethralaya, Guwahati, Assam, India

Date of Submission18-Aug-2020
Date of Acceptance08-Oct-2020
Date of Web Publication24-Jun-2021

Correspondence Address:
Dr. Shyam Sundar Das Mohapatra
Sri Sankaradeva Nethralaya, 96, Basistha Road, Guwahati - 781 028, Assam
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/tjosr.tjosr_117_20

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  Abstract 


Epidermolysis bullosa (EB) is an autoimmune mucocutaneous disorder associated with abnormalities of the basement membrane zone of skin and mucous membranes, characterized by blister formation in response to minor trauma. Ocular involvement is common in autosomal dominant variant of dystrophic EB (DDEB), but the incidence of involvement of ocular structures varies widely among different patients as well as among different subtypes. Conjunctival blistering without eyelid or corneal disease is one of the most common ocular manifestations. Here, we present a rare case of DDEB in a 4-year-old boy with conjunctival blister formation without eyelid or corneal involvement. The patient was managed conservatively with lubricating eye drops, and the conjunctival blister resolved subsequently. The major treatment modality is the use of ocular lubricants. Protection of eye from minor trauma such as rubbing is most important to prevent ocular complications.

Keywords: Autoimmune, blistering skin lesions, conjunctival blister, dystrophic epidermolysis bullosa, mucocutaneous


How to cite this article:
Mohapatra SS, Das D, Bhattacharjee H. Ocular involvement in a case of dystrophic epidermolysis bullosa with conjunctival blistering without eyelid or corneal disease: A rare case report. TNOA J Ophthalmic Sci Res 2021;59:169-71

How to cite this URL:
Mohapatra SS, Das D, Bhattacharjee H. Ocular involvement in a case of dystrophic epidermolysis bullosa with conjunctival blistering without eyelid or corneal disease: A rare case report. TNOA J Ophthalmic Sci Res [serial online] 2021 [cited 2021 Jul 27];59:169-71. Available from: https://www.tnoajosr.com/text.asp?2021/59/2/169/319262




  Introduction Top


Epidermolysis bullosa (EB) is an autoimmune mucocutaneous disorder associated with abnormalities of the basement membrane zone of skin and mucous membranes. It is characterized by blister formation in response to minor trauma to the skin and mucous membranes, which generally starts during infancy.[1],[2] Most frequently, this disorder presents in hereditary forms, but an acquired form also exists.[2] The hereditary forms have several subtypes, including EB simplex (autosomal dominant), junctional EB (autosomal dominant), and dystrophic EB (DEB, autosomal dominant or recessive).[1] The DEB subtype is characterized by formation of subepidermal blisters beneath the basal lamina.[3] The subtypes of EB have been characterized by mutations of various genes affecting different elements of the basement membrane zone. Genetic studies have found mutations in the COL7A1 gene in DEB (both dominant and recessive types). This gene is responsible for collagen Type VII synthesis, which acts as the coordinating agent for tissue collagen fibrils. Hence, these mutations cause disruption of collagen fibrils.[4] The clinical manifestations and the severity vary thoroughly among dominant and recessive forms of DEB. The dominant form of DEB (DDEB) usually presents soon after birth or during early infancy or early childhood with skin blistering and dermal scarring. Dystrophic nails are also a common presentation in the dominant variety, which ranges from alteration in the shape of the nail to complete absence of nail.[1] Recessive type of DEB (RDEB) commonly manifests at birth with more severe clinical manifestations as compared to the dominant form with extensive dermal blister formation over the extremities, knees, and elbows, resulting in joint deformity and polysyndactyly. Mucocutaneous scars are common in RDEB, leading to the formation of microstomia and ankyloglossia, from which squamous cell carcinoma can develop. Gastrointestinal strictures can also occur and cause problems with eating and swallowing.[5] Ocular manifestations of EB vary widely, including conjunctival blister formation, corneal ulceration, symblepharon formation, blepharitis, ectropion, nasolacrimal duct obstruction, disorder of vision, and even blindness in some cases.[6] Herein, we report a rare case of DDEB who developed conjunctival blister formation without any eyelid or corneal disease.


  Case Report Top


A 4-year-old male patient presented to our hospital with the complaints of redness in the right eye, with itching and discharge in both eyes. He had a history of blistering skin lesions on the extremities since the age of 3 months. He was diagnosed as a case of DEB by a dermatologist, proven by biopsy. On meticulous history taking and general examination, he was found to be a case of autosomal dominant variant of DEB (DDEB), which was confirmed by genetic analysis. On general examination, he had active and chronic blistering skin lesions on the elbows, fingers, knees, legs, toes [Figure 1], and back of the pinna [Figure 2], which had led to scarring in some areas. He also had dystrophy of nails and absence of nails in some toes [Figure 3]. The oral mucosa was normal, and the patient did not have any swallowing complaints or other gastrointestinal disorder. Abdominal ultrasonography report was also within normal limits. On ophthalmic examination, unaided visual acuity was 20/40 in both eyes, and there were normal pupillary reactions and normal fundus bilaterally. There was a small blister formation noted in the superior temporal quadrant of the conjunctiva in the right eye with associated episcleral congestion [Figure 4].
Figure 1: Active and chronic blistering skin lesions on the elbows, fingers, knees, legs, and toes with scarring in some areas

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Figure 2: Active and chronic blistering skin lesions on the back of the pinna

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Figure 3: Dystrophy of nails and absence of nails in some toes

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Figure 4: Small blister formation in the superior temporal quadrant of the conjunctiva in the right eye with associated episcleral congestion

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On investigation, corneal topography revealed simple myopic astigmatism in both eyes. The patient was managed conservatively with lubricating eye drops (containing polyethylene glycol 0.4% + propylene glycol 0.3%, four times a day) for application in both eyes. The parents were counseled regarding the risk of development of new lesions which may lead to subsequent ocular complications and preventive measures such as avoidance of eye rubbing and protection of the eye and the exposed areas of the skin even from minor trauma. The conjunctival blister resolved subsequently, and no new lesion developed at 3-month follow-up.


  Discussion Top


DEB is a skin disorder resulting in dissociation of its superficial layers. This disorder is the most severe type of EB.[5] Tong et al.[2] reported significant ocular involvement with conjunctival blistering without eyelid or corneal disease only in one patient (4%) among 28 patients with DDEB. Previously, McDonnell and Spalton[7] studied a series of 11 patients with DEB and reported eye changes in 73% of patients. Lin et al.[8] reported ocular complications in 26% out of 204 patients with EB. The abnormal structure of collagen type VII in patients suffering from DEB results in deficient tissue repair leading to scar and fibrous formation.[4] The patient presented herein was a case of DEB who developed conjunctival blisters with associated episcleral congestion. The patient also had the complaint of itching with the habit of rubbing of eyes, which may cause recurrent lesions with more severity and may lead to complications such as conjunctival scarring, symblepharon formation, and eyelid ectropion or entropion. Using protective glasses and avoiding minor trauma such as rubbing of eyes are the important precautionary measures for patients with DEB to prevent the development of ocular complications.[1]


  Conclusion Top


Ocular involvement is common in DDEB, but the incidence of involvement of the ocular structures varies widely among different patients as well as among different subtypes. Conjunctival blistering without eyelid or corneal disease is one of the most common ocular manifestations. The major treatment modality is the use of ocular lubricants. Ocular complications, once develop, can be managed with various surgical approaches according to the severity. Protection of eye from minor trauma such as rubbing is most important to prevent ocular complications.

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.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Mahdavi M, Javadi MA. External ocular manifestations in autosomal dominant dystrophic epidermolysis bullosa; a case report. J Ophthalmic Vis Res 2008;3:70-3.  Back to cited text no. 1
    
2.
Tong L, Hodgkins PR, Denyer J, Brosnahan D, Harper J, Russel-Eggitt I, et al. The eye in epidermolysis bullosa. Br J Ophthalmol 1999;83:323-6.  Back to cited text no. 2
    
3.
Fine JD, Johnson LB, Weiner M, Stein A, Cash S, Deleoz J, et al. Eye involvement in inherited epidermolysis bullosa: Experience of the national epidermolysis bullosa registry. Am J Ophthalmol 2004;138:254-62.  Back to cited text no. 3
    
4.
Sawamura D, Nizeki H, Miyagawa S, Shinkuma S, Shimizu H. Novel indel COL7A1 mutation 8068 del17ins GA causes dominant dystrophic epidermolysis bullosa. Br J Dermatol 2006;154:995-7.  Back to cited text no. 4
    
5.
Azrak B, Kaevel K, Hofmann L, Gleissner C, Willershausen B. Dystrophic epidermolysis bullosa: Oral findings and problems. Spec Care Dentist 2006;26:111-5.  Back to cited text no. 5
    
6.
Matsumoto Y, Dogru M, Tsubota K. Ocular surface findings in Hallopeau–Siemens subtype of dystrophic epidermolysis bullosa: Report of a case and literature review. Cornea 2005;24:474-9.  Back to cited text no. 6
    
7.
McDonnell PJ, Spalton DJ. The ocular signs and complications of epidermolysis bullosa. J R Soc Med 1988;81:576-8.  Back to cited text no. 7
    
8.
Lin AN, Murphy F, Brodie SE, Carter DM. Review of ophthalmic findings in 204 patients with epidermolysis bullosa. Am J Ophthalmol 1994;118:384-90.  Back to cited text no. 8
    


    Figures

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



 

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