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 Table of Contents  
CASE REPORT
Year : 2020  |  Volume : 58  |  Issue : 4  |  Page : 307-309

Skin lesions over the neck with vision loss: Pseudoxanthoma elasticum with angioid streaks


1 Department of Vitreo-Retina, ASG Eye Hospital, Varanasi, Uttar Pradesh, India
2 Department of Vitreo-Retina, Aravind Eye Hospital, Madurai, Tamil Nadu, India

Date of Submission31-May-2020
Date of Decision09-Aug-2020
Date of Acceptance12-Jul-2020
Date of Web Publication16-Dec-2020

Correspondence Address:
Dr. Gauri Khare
ASG Eye Hospital, Varanasi, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/tjosr.tjosr_65_20

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  Abstract 


Pseudoxanthoma elasticum (PXE) is an autosomal recessive multisystem disorder characterized by the involvement of skin, cardiovascular system, and the eyes. Angioid streaks (AS) are the most common ophthalmoscopic finding in PXE. Choroidal neovascular membrane (CNVM) is the most severe sight-threatening ophthalmic complication associated with AS in PXE. Prompt ophthalmologic referral, early diagnosis of CNVM, and appropriate therapy with intravitreal injection of antivascular endothelial growth factors are crucial to preserve the vision of patients of PXE with AS-associated CNVM. In this short case series of three patients, we describe different forms of retinopathy in PXE and their management.

Keywords: Angioid streaks, avastin, choroidal neovascular membrane, pseudoxanthoma elasticum


How to cite this article:
Khare G, Mishra C, Kannan NB. Skin lesions over the neck with vision loss: Pseudoxanthoma elasticum with angioid streaks. TNOA J Ophthalmic Sci Res 2020;58:307-9

How to cite this URL:
Khare G, Mishra C, Kannan NB. Skin lesions over the neck with vision loss: Pseudoxanthoma elasticum with angioid streaks. TNOA J Ophthalmic Sci Res [serial online] 2020 [cited 2021 Jan 19];58:307-9. Available from: https://www.tnoajosr.com/text.asp?2020/58/4/307/303651




  Introduction Top


Pseudoxanthoma elasticum (PXE), also known as Gronblad–Strandberg syndrome, is an autosomal recessive multisystem disorder due to mutation on ABCC6 gene on chromosome 16p13.1.[1],[2] PXE is characterized by the involvement of skin, cardiovascular system, and the eyes.[1] The typical skin lesions of PXE are small, yellowish, flat papules developing on the neck, underarms, and other flexor areas.[1] These lesions may coalesce to form plaques giving the so-called ''plucked chicken'' appearance.[1] The global prevalence of PXE is 1 in 25,000–150,000. It has female preponderance with female-to-male ratio of 2:1.[3] Angioid streaks (AS) are the most common ophthalmoscopic finding and is reported in 85% of cases with PXE.[1] Other fundus findings include comet tail lesions, reticular macular dystrophy, optic disc drusen, and peau d'orange pigmentation.[1],[4],[5] Choroidal neovascular membrane (CNVM) is the most severe sight-threatening ophthalmic complication associated with AS in PXE. The incidence of CNVM in AS is described to be up to 86%, and bilateral CNVM is seen in up to 71% of cases.[6],[7] Because of their asymptomatic nature, the PXE cases are diagnosed at an average delayed period of 9 years.[8] However, this delay can convert the associated CNVM to disciform scar which is having a very poor prognosis. In this short case series, we describe different forms of retinopathy in PXE and their management.


  Case Reports Top


Case 1

A 45-year-old male presented with complaints of defective vision in the left eye (LE) for 2 months. The patient also had skin lesions along the neck [Figure 1]a and [Figure 1]b for which he was previously diagnosed elsewhere as PXE. His cardiological examination including electrocardiography (ECG) and echocardiography was normal. On examination, his best-corrected visual acuity (BCVA) in the right eye (RE) was 6/6 and in the LE was 5/60. Fundus examination revealed peripapillary AS with comet tail lesions in BE and CNVM in the LE [Figure 1]c and [Figure 1]d. Optical coherence tomography (OCT) of the macula of RE indicated breaks in Bruch's membrane due to angioid streaks and LE indicated subretinal hyperreflective lesions suggestive of active CNVM [Figure 1]e and [Figure 1]f. The patient was advised and underwent intravitreal injection of bevacizumab (Avastin, Roche, Basel Switzerland; Genentech, South San Francisco, CA, USA) 1.25 milligram in 0.05 mL in the LE.
Figure 1: (a and b) Skin lesions over the neck suggestive of pseudoxanthoma elasticum, (c and d) wide-angle fundus photo of BE (Zeiss Clarus fundus camera): White solid stars - angioid streaks, white solid arrow marks - comet tail lesions, lesion surrounded by white solid triangles - choroidal neovascular membrane in the left eye. (e and f) Swept source optical coherence tomography (DRI Triton, Topcon) image of the macula of BE. Yellow solid arrow marks - break in Bruch's membrane due to angioid streaks in the right eye. White solid arrow - choroidal neovascular membrane, white solid stars - subretinal fluid, white solid triangles - intraretinal fluid in the left eye

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Case 2

A 45-year-old female presented to us with defective vision in BE for the past 1 year. The patient also had flat papules along the neck [Figure 2]a for which she never underwent a dermatological examination. Her BCVA was 6/36 in the RE and 6/24 in the LE. Fundus examination and fundus fluorescein angiography revealed AS with subretinal hemorrhage and CNVM in BE [Figure 2]b, [Figure 2]c, [Figure 2]d, [Figure 2]e. OCT of the macula of RE was suggestive of breaks in Bruch's membrane due to AS and intraretinal fluid due to CNVM. OCT of the macula of LE was indicative of subretinal hyperreflective lesions suggestive of active CNVM [Figure 2]f and [Figure 2]g. The patient was advised and underwent intravitreal injection of bevacizumab (Avastin, Roche, Basel Switzerland; Genentech, South San Francisco, CA, USA) 1.25 milligram in 0.05 mL in BE. She was referred for dermatological and cardiological evaluation in view of PXE.
Figure 2: (a) Skin lesions over the neck suggestive of pseudoxanthoma elasticum, (b and c) fundus photo of BE (Zeiss fundus camera with VISUPAC digital imaging system): White solid stars - angioid streaks, lesion surrounded by white solid triangles - choroidal neovascular membrane, (d and e) fundus fluorescein angiography of BE suggestive of choroidal neovascular membrane (white solid triangles). Also note the hyperfluorescence caused by window defects due to angioid streaks. (f and g) Spectral-domain optical coherence tomography (Spectralis, HRA) image of the macula of BE. Yellow solid arrow marks - break in Bruch's membrane due to angioid streaks. White solid star marks - intraretinal fluid in the RE. White solid arrow - choroidal neovascular membrane in the left eye

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Case 3

A 54-year-old female presented to us for a routine ophthalmological checkup. She had typical skin lesions over the neck [Figure 3]a and [Figure 3]b and was a diagnosed case of PXE. Her cardiological examination including ECG and echocardiography was normal. On examination, her BCVA was 6/6 (−6 diopter spherical) in the RE and 6/6 (−6.5 diopter spherical and -1 diopter cylindrical) in the LE. Fundus examination revealed AS and peripapillary chorioretinal atrophy due to high myopia in BE [Figure 3]c and [Figure 3]d. Spectral domain OCT of the macula was suggestive of peripapillary chorioretinal atrophy in BE and breaks in Bruch's membrane due to AS in the RE [Figure 3]e and [Figure 3]f. There was no evidence of CNVM in the current OCT images, neither in the previous OCT images. She was advised routine annual follow-up.
Figure 3: (a and b) Skin lesions over the neck suggestive of pseudoxanthoma elasticum, (c and d) fundus photo of BE (Zeiss fundus camera with VISUPAC digital imaging system). White solid stars - angioid streaks, black solid stars - peripapillary chorioretinal atrophy due to high myopia. (e and f) Spectral-domain optical coherence tomography (Spectralis, HRA) image of the macula of BE. Yellow solid arrow marks - break in Bruch's membrane due to angioid streaks in the right eye. Black solid arrow mark: chorioretinal atrophy due to high myopia in BE

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  Discussion Top


The major criteria to diagnose PXE include characteristic skin signs and characteristic ophthalmologic features, i.e., AS, peau d'orange, and maculopathy.[9] Pathologically PXE involves progressive degradation and mineralization of the tissues containing elastin and/or collagen, mainly skin, cardiovascular system, and eyes. In the eyes, these changes result in AS and may form CNVM.[3],[4] AS is asymptomatic usually.[4] The patient number 3 in our series had best-corrected vision of 6/6 in BE. However, AS may lead to progressive loss of vision in case of development of CNVM. Visual impairment can be present in up to 50%–70% of patients with PXE.[8],[10] Although historically many modalities of treatment are described for CNVM, currently, intravitreal antivascular endothelial growth factor (VEGF) injections are the most preferred.[7] A multicentric, retrospective, observational PIXEL study showed that the mean visual acuity was maintained at 1 year with ranibizumab 0.5 mg treatment, and thereafter, it remained stable until 4-year follow-up.[3] In our cases number 1 and 2, the patients were visually symptomatic due to CNVM and hence were treated with intravitreal avastin (off-label). Avastin was preferred over other anti-VEGF agents due to economic affordability.

Prompt ophthalmologic referral, early diagnosis of CNVM, and appropriate therapy with intravitreal injection of anti-VEGFs are crucial to preserve the vision of patients of PXE with AS associated CNVM.

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.
Laube S, Moss C. Pseudoxanthoma elasticum. Arch Dis Child 2005;90:754-6.  Back to cited text no. 1
    
2.
Finger RP, Charbel Issa P, Ladewig MS, Götting C, Szliska C, Scholl HP, et al. Pseudoxanthoma elasticum: Genetics, clinical manifestations and therapeutic approaches. Surv Ophthalmol 2009;54:272-85.  Back to cited text no. 2
    
3.
Mimoun G, Ebran JM, Grenet T, Donati A, Cohen SY, Ponthieux A. Ranibizumab for choroidal neovascularization secondary to pseudoxanthoma elasticum: 4-year results from the PIXEL study in France. Graefes Arch Clin Exp Ophthalmol 2017;255:1651-60.  Back to cited text no. 3
    
4.
Tripathy K, Quint JM. Angioid Streaks (Knapp Streaks) [Updated 2019 Oct 23]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2019.  Back to cited text no. 4
    
5.
Kumar V. “Comet-tail” lesions of pseudoxanthoma elasticum. Indian J Ophthalmol 2018;66:300.  Back to cited text no. 5
[PUBMED]  [Full text]  
6.
Uitto J, Jiang Q, Váradi A, Bercovitch LG, Terry SF. Pseudoxanthoma elasticum: Diagnostic features, classification, and treatment options. Expert Opin Orphan Drugs 2014;2:567-77.  Back to cited text no. 6
    
7.
Chatziralli I, Saitakis G, Dimitriou E, Chatzirallis A, Stoungioti S, Theodossiadis G, et al. ANGIOID STREAKS: A Comprehensive Review From Pathophysiology to Treatment. Retina 2019;39:1-1.  Back to cited text no. 7
    
8.
Hacker SM, Ramos-Caro FA, Beers BB, Flowers FP. Juvenile pseudoxanthoma elasticum: recognition and management. Pediatr Dermatol 1993;10:19-25.  Back to cited text no. 8
    
9.
Lebwohl M, Phelps RG, Yannuzzi L, Chang S, Schwartz I, Fuchs W. Diagnosis of pseudoxanthoma elasticum by scar biopsy in patients without characteristic skin lesions. N Engl J Med 1987;317:347-50.  Back to cited text no. 9
    
10.
Struk B, Neldner KH, Rao VS, St Jean P, Lindpaintner K. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Hum Mol Genet 1997;6:1823-8.  Back to cited text no. 10
    


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