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PHOTO ESSAY
Year : 2021  |  Volume : 1  |  Issue : 4  |  Page : 788-789

Ectrodactyly with absent meibomian glands and blepharophimosis – A unique presentation


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

Date of Submission02-Feb-2021
Date of Acceptance15-Mar-2021
Date of Web Publication09-Oct-2021

Correspondence Address:
Soham S Pal
Department of Orbit, Oculoplasty, Reconstructive and Aesthetic Services, Sankara Nethralaya, Medical Research Foundation, Chennai, Tamil Nadu - 600 006
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_286_21

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  Abstract 


Keywords: Blepharophimosis, ectrodactyly, infrared meibography


How to cite this article:
Mukherjee B, Pal SS. Ectrodactyly with absent meibomian glands and blepharophimosis – A unique presentation. Indian J Ophthalmol Case Rep 2021;1:788-9

How to cite this URL:
Mukherjee B, Pal SS. Ectrodactyly with absent meibomian glands and blepharophimosis – A unique presentation. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Oct 28];1:788-9. Available from: https://www.ijoreports.in/text.asp?2021/1/4/788/327731



A 59-year-old male presented with complaints of burning sensation and dryness of eyes. His visual acuity was 6/24; N12 in the right and 6/18; and N12 in the left eye. External examination revealed “lobster-claw” deformities of both upper and lower extremities [Figure 1]a and [Figure 1]b. Ocular examination showed features of blepharophimosis syndrome [Figure 1]c. On slit-lamp examination, all four lacrimal puncta were patent but  Meibomian gland More Details orifices were absent. The bulbar conjunctiva was congested with significant telangiectasia. The corneas showed 360 degrees of peripheral vascularization with few Salzmann nodules. The limbal palisades of Vogt were partially absent. Superficial punctate staining was seen with fluorescein stain. Schirmer test was 3 mm and tear film breakup time was 2 s in both the eyes. Lipid layer interferometry by LipiView® (TearScience, Morrisville, NC 27560, USA) showed a thickness of 35 and 20 nm [Figure 2]a. Infrared meibography revealed the absence of meibomian glands in both upper and lower eyelids [Figure 2]b, [Figure 2]c, [Figure 2]d, [Figure 2]e.
Figure 1: (a and b) External photo showing ectrodactyly/Lobster-claw deformity of the upper (a) and lower extremities (b). (c) Characteristic bilateral shortened horizontal (blepharophimosis) and vertical palpebral fissures (blepharoptosis)

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Figure 2: (a) LipiView® ocular surface interferometry (LLT = Lipid Layer Thickness). (b and c): Infrared meibography-showing complete meibomian gland dropout in the right (b) and left (c) upper eyelids. (d and e) Absence of meibomian glands in the right (d) and left (e) lower eyelids

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  Discussion Top


Ectrodactyly or split hand/split foot malformation may occur as part of several syndromes including the ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome. The three cardinal signs of EEC syndrome are ectrodactyly, cleft lip with or without cleft palate, and abnormalities in ectodermal structures including exocrine glands (reduction/absence of sweat, sebaceous, and salivary glands). However, due to wide clinical variability, the presence of the cardinal signs together is not mandatory for the diagnosis, and each one of them can be expressed in varying degrees of severity. EEC3, a gene mutation disorder involving TP63, may rarely be associated with blepharophimosis.[1],[2] Manifestations of ectodermal dysplasia include diffuse hypopigmented dry and scaly skin and hair, which is also scanty, dystrophic nails, and abnormal dentition. Ophthalmic manifestations may include entropion, absence of lacrimal puncta, trichiasis, absent lashes, blepharitis, corneal opacification and vascularization, and recurrent erosions.[3] The absence of meibomian glands is a known marker for EEC syndrome.[4] On infrared meibography, the meibomian glands appear as hyperluminescent white bands arranged longitudinally across the length of the tarsal plate.[5] The complete absence of the glands in a patient with EEC syndrome has been documented for the first time in this patient. The management involves frequent lubrication to safeguard against corneal infections caused by tear film instability due to the deficient lipid layer. The patient was explained the condition and advised genetic counselling and frequent application of topical lubricating eye drops.

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.
Di Iorio E, Kaye SB, Ponzin D, Barbaro V, Ferrari S, Böhm E, et al. Limbal stem-celldeficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations. Ophthalmology 2012;119:74-83.  Back to cited text no. 1
    
2.
Kennedy DP, Chandler JW, McCulley JP. Ocular surface involvements in ectrodactyly-ectodermal dysplasia-cleft syndrome. Cont Lens Anterior Eye 2015;38:228-31.  Back to cited text no. 2
    
3.
Filho AB, Souza J, Faucz FR, Sotomaior VS, Dupont B, Bartel F, et al. Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization. Am J Med Genet A 2011;155A: 1152-6.  Back to cited text no. 3
    
4.
Mondino BJ, Bath PE, Foos RY, Apt L, Rajacich GM. Absent meibomian glands in the ectrodactyly, ectodermal dysplasia, cleft lip palate syndrome. Am J Ophthalmol 1984;97:496-500.  Back to cited text no. 4
    
5.
Vunnava KP, Shetty N, Kapur KB. A review of meibography for a refractive surgeon. Indian J Ophthalmol Case Rep2020;68:2663-9.  Back to cited text no. 5
    


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