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 Table of Contents  
CASE REPORT
Year : 2021  |  Volume : 33  |  Issue : 2  |  Page : 211-213

Pseudoxanthoma elasticum: Pathognomonic ocular and skin lesions with histopathological confirmation


1 Department of Vitreo-retina Services, Sri Sai Aravind Eye Hospital, Hosapete, Karnataka, India
2 Department of Vitreo-retina Services, Aravind Eye Hospital, Madurai, Tamil Nadu, India
3 Department of Ophthalmology, JIPMER, Puducherry, India
4 Department of Pathology, Aravind Eye Hospital, Madurai, Tamil Nadu, India

Date of Submission11-Jul-2020
Date of Acceptance14-Aug-2020
Date of Web Publication21-Aug-2021

Correspondence Address:
Dr. Amit Kumar Deb
Department of Ophthalmology, Old IPD Block, 1st Floor, JIPMER, Gorimedu, Puducherry - 605 006
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/kjo.kjo_98_20

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  Abstract 


A 34-year-old female presented to us with complaints of decreased vision in her left eye for 1 month. Best-corrected visual acuity was 20/20 in the right eye and 20/60 in the left eye. Anterior segment examination was normal in both the eyes. Fundus examination showed angioid streaks and comet tail lesions in both eyes. The left eye in addition showed a choroidal neovascular membrane (CNVM) at the macula. Systemic examination revealed skin lesions on the neck with a plucked chicken appearance and multiple papules. Biopsy from the lesions provided histopathological confirmation of pseudoxanthoma elasticum (PXE). CNVM in the left eye was treated successfully with a single dose of intravitreal bevacizumab injection with no further recurrence. No cardiovascular association was found in our case. This case report describes the pathognomonic fundus lesions seen in PXE. This case also emphasizes the need for thorough systemic evaluation, including biopsy from skin lesions for histopathological confirmation of the diagnosis in all cases with ocular features of PXE.

Keywords: Angioid streaks, choroidal neovascular membrane, comet tail lesions, pseudoxanthoma elasticum


How to cite this article:
Manjunatha M, Kumar J, Deb AK, Radhakrishnan S. Pseudoxanthoma elasticum: Pathognomonic ocular and skin lesions with histopathological confirmation. Kerala J Ophthalmol 2021;33:211-3

How to cite this URL:
Manjunatha M, Kumar J, Deb AK, Radhakrishnan S. Pseudoxanthoma elasticum: Pathognomonic ocular and skin lesions with histopathological confirmation. Kerala J Ophthalmol [serial online] 2021 [cited 2021 Nov 30];33:211-3. Available from: http://www.kjophthal.com/text.asp?2021/33/2/211/324207




  Introduction Top


Pseudoxanthoma elasticum (PXE) is a rare inherited multisystem disorder characterized by progressive calcification of connective tissue rich in elastic fibers which result in characteristic changes in the skin, eyes, and the cardiovascular system. Cutaneous PXE was first described in 1896 by Darier, who coined the term “pseudoxanthoma elasticum.”[1] Bruch”s membrane, the outer retinal layer also contains elastic fibers which undergo a loss in elasticity with subsequent calcification leading to cracks known as angioid streaks.[2] However, it is the comet tail lesions that are considered to be pathognomonic of PXE and may appear earlier than other changes of PXE such as angioid streaks and Peau d'orange. Hereby, we report a case with the pathognomonic comet tail lesions in the fundus, characteristic skin lesions, and histopathological confirmation of the diagnosis of PXE obtained from biopsy of the skin lesions.


  Case Report Top


A 34-year-old female presented to us with complaints of defective vision in her left eye (LE) for 1 month. On examination, her best-corrected visual acuity (BCVA) was 20/20 in the right eye (RE) and 20/60 in the left eye. Anterior segment examination was within normal limits in both eyes. Fundus examination revealed brownish-gray irregular lines of varying width originating from the optic disc and radiating outward in both the eyes, suggestive of angioid streaks along with multiple, small chorioretinal atrophies in the mid-periphery as well as in the posterior pole with a halo of pigment hypertrophy around them and a tail of localized retinal pigment epithelium (RPE) atrophy pointing towards the posterior pole, suggestive of the characteristic comet tail lesions described for PXE [Figure 1]. The left eye in addition also had secondary choroidal neovascular membrane (CNVM) in the foveal region with associated intraretinal fluid. Spectral-domain-optical coherence tomography of the left eye confirmed the presence of CNVM [Figure 2]. Fundus fluorescein angiography in both the eyes revealed variable staining of the angioid streaks with the predominance of hyperfluorescence. The comet tail lesions were seen as hyperfluorescent spots, with their hyperfluorescent tails pointing toward the disc. The macula in the left eye demonstrated a well-demarcated area of lacy hyperfluorescence with blurring of the margins in the late phase, suggestive of classic CNVM. The patient was administered intravitreal bevacizumab (1.25 mg in 0.05 mL) in the left eye for CNVM with no further recurrence of CNVM. On systemic examination, the lateral aspect of her neck showed the presence of plucked chicken appearance, while the back of her neck showed the presence of multiple papules [Figure 3]. The patient had undergone skin biopsy in order to confirm the diagnosis of PXE. The H and E staining showed the presence of numerous distorted, fragmented, tortuous, and irregularly clumped elastin fibers in the mid-dermis with features of progressive dystrophic mineralization seen on Alizarin Red staining, suggestive of PXE [Figure 4]. Cardiovascular system evaluation in the patient was normal.
Figure 1: Fundus photograph (a) and fundus fluorescein angiogram (b) of the left eye showing angioid streaks (arrowhead) and choroidal neovascular membrane (arrow). Multiple comet tail lesions can be seen in the fundus photograph (c) and fundus fluorescein angiogram (d) of the retinal periphery. Fundus photograph (e) and fundus fluorescein angiogram (f) of the right eye showing angioid streaks and comet tail lesions

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Figure 2: Spectral.domain.optical coherence tomography of the right eye (a) showing normal foveal contour and left eye (b) showing choroidal neovascular membrane with intraretinal fluid

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Figure 3: Clinical photograph showing plucked chicken appearance on the lateral aspect of the neck (a) and the presence of multiple papules at the back of the neck (b) of the patient

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Figure 4: Histopathological features of pseudoxanthoma elasticum in cutaneous lesions: (a and b) fragmented elastic fibers (arrowhead) in the mid-dermis (H and E, ×10 and × 100), (c and d) fragmented elastic fibers with calcification and Alizarin red stain positive reactivity (×100 and × 200)

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  Discussion Top


Skin is usually the first organ to be involved in PXE with the appearance of small (1–5 mm), yellowish ivory papules in large flexor surfaces – sides of the neck, axillae, groin, and back of the knee. Similar skin changes can also be seen in Paget's disease, beta-thalassemia, and long-standing focal cutaneous elastosis. A diagnosis of PXE can only be confirmed by a skin biopsy showing fragmented and clustered calcified elastic tissues in the middle and lower dermis, which was done in our case and revealed the same.[3],[4],[5] The ocular manifestations of the disease range from benign to vision-threatening complications. The first change usually appears in the form of pigment irregularities temporal to the fovea and is called Peau d'orange. It typically precedes angioid streaks by 1 to 8 years. Angioid streaks are breaks of the calcified and thickened Bruch's membrane. They are usually bilateral and surround the disc concentrically and radiate outward as brownish-gray irregular lines of varying width. Our case had the classic angioid streaks bilaterally. Secondary CNVM often develops in later stages of the disease due to fibrovascular ingrowth from the rim of angioid streaks.[6] Our case had CNVM in one eye and was treated successfully with one injection of intravitreal bevacizumab, and BCVA improved to 20/30 in the left eye with no further recurrence of CNVM till the last follow-up. CNVM due to angioid streaks usually shows favorable outcome with anti-VEGF injection, as seen in our case also.

Another more specific ocular finding in patients with PXE is the presence of comet lesions – small chorioretinal atrophies, usually occurring in the mid-periphery, with a localized atrophy of the RPE pointing towards the posterior pole from the lesion, just like a comet's tail. All these features were seen in our case. They have been suggested to be a pathognomonic clinical feature of PXE and can appear earlier than other changes of the pigment epithelium.[7] Other ocular associations for PXE include optic nerve head drusen and pattern dystrophy-like changes – none seen in our case.

As far as the systemic associations in PXE are concerned, the cardiovascular system is often affected – decreased peripheral pulse (25%), hypertension (22.5%), angina pectoris (19%), intermittent claudication (18%), and gastrointestinal hemorrhage (13%).[8] None of these were, however, present in our case.

PXE is, thus, an inherited multisystem disorder with important ocular and systemic associations. Although angioid streaks are a striking ocular feature of this disease, comet tail lesions are more pathognomonic of PXE, while skin biopsy is the only confirmatory test easily available. There is a need for thorough systemic evaluation including skin and cardiovascular systems, documentation and biopsy of any skin lesions present for histopathological confirmation of diagnosis in all cases with ocular features of PXE.[4],[9],[10] The clinical suspicion of PXE in our case is well supported by confirmatory skin lesion biopsy report, thereby ruling out any other mimicking clinical scenario. Although our patient did not have any cardiac problem at presentation, regular cardiovascular evaluation is advocated in all PXE patients to detect any abnormality at the earliest.

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.
Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A. Pseudoxanthoma elasticum A clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 2005;42:881-92.  Back to cited text no. 1
    
2.
Zineb K. Ophthalmologic manifestations of pseudoxanthoma elasticum. Oman J Ophthalmol 2018;11:88-9.  Back to cited text no. 2
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3.
Schneider T, Apel HP, Kuhlwein A, Mensing H, Schaeg G. Gronblad-Strandberg syndrome. Z Hautkr 1984;59:1290-2, 1297-300.  Back to cited text no. 3
    
4.
Gross G. Osteitis deformans (Paget)--angioid streaks (Knapp)- -pseudoxanthoma elasticum (Darier)--manifestations of a common systemic disease? Arch Orthop Unfallchir 1959;50:613-7.  Back to cited text no. 4
    
5.
Baccarani-Contri M, Bacchelli B, Boraldi F, Quaglino D, Taparelli F, Carnevali E, et al. Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with beta-thalassemia. J Am Acad Dermatol 2001;44:33-9.  Back to cited text no. 5
    
6.
Mansour AM, Ansari NH, Shields JA, Annesley WH Jr, Cronin CM, Stock EL. Evolution of angioid streaks. Ophthalmologica 1993;207:57-61.  Back to cited text no. 6
    
7.
Gass JD. “Comet” lesion: An ocular sign of pseudoxanthoma elasticum. Retina 2003;23:729-30.  Back to cited text no. 7
    
8.
Farber EM, Bright RD. Cutaneous manifestations of internal diseases and their role in diagnosis. World Wide Abstr Gen Med 1964;7:8-16.  Back to cited text no. 8
    
9.
Marques GF, Nakandakari S, Coelho AP, Nigro MH, Sabage J. Pseudoxanthoma elasticum Report of two cases. An Bras Dermatol 2014;89:812-5.  Back to cited text no. 9
    
10.
Elgendy A, Altaweel A, Alshawadfy E, Ali E, Afify M, Abouelela M, et al. Pseudoxanthoma elasticum: A case report. Int J Case Rep Imag 2016;7:336-40.  Back to cited text no. 10
    


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



 

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