Indian Journal of Dermatology
  Publication of IADVL, WB
  Official organ of AADV
Indexed with Science Citation Index (E) , Web of Science and PubMed
 
Users online: 3946  
Home About  Editorial Board  Current Issue Archives Online Early Coming Soon Guidelines Subscriptions  e-Alerts    Login  
    Small font sizeDefault font sizeIncrease font size Print this page Email this page


 
Table of Contents 
CASE REPORT
Year : 2019  |  Volume : 64  |  Issue : 6  |  Page : 482-485
A case series of pseudoxanthoma elasticum-like disorders


Department of Dermatology, King Abdulaziz University, Jeddah, Saudi Arabia

Date of Web Publication7-Nov-2019

Correspondence Address:
Jehad Osama Hariri
Department of Dermatology, King Abdulaziz University, PO Box: 80205, Jeddah 21589
Saudi Arabia
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijd.IJD_89_18

Rights and Permissions

   Abstract 


Pseudoxanthoma elasticum (PXE)-like papillary dermal elastolysis and focal dermal elastosis are acquired noninflammatory elastic tissue disorders. The skin lesions clinically resemble PXE without systemic involvement. We report the clinicopathological features of five cases and discuss the pathogenesis and differential diagnosis. Increased awareness of this newly described entity will broaden the differential diagnosis for dermatologists when encountering a similar case scenario.


Keywords: Cobblestone, elastic fibers, neck, pseudoxanthoma


How to cite this article:
Aljoudi SB, Abduljabbar MH, Hariri JO. A case series of pseudoxanthoma elasticum-like disorders. Indian J Dermatol 2019;64:482-5

How to cite this URL:
Aljoudi SB, Abduljabbar MH, Hariri JO. A case series of pseudoxanthoma elasticum-like disorders. Indian J Dermatol [serial online] 2019 [cited 2019 Nov 19];64:482-5. Available from: http://www.e-ijd.org/text.asp?2019/64/6/482/270582





   Introduction Top


Pseudoxanthoma elasticum (PXE) is a serious, rare genetic disorder of the young, affecting the elastic tissue of multiple organs, most importantly the skin, eye, and vascular system.[1] The pathogenesis is due to a mutation in the ABCC6 gene and is characterized by abnormal calcification of the connective tissue.[2]

However, a spectrum of benign conditions can resemble skin manifestation of PXE without any systemic involvement [Table 1]. PXE-like papillary dermal elastolysis (PXE-PDE) and focal dermal elastosis (FDE) are acquired elastic tissue disorders that are seen more frequently at the dermatology outpatient visits in elderly postmenopausal women.[3] Both are characterized by the appearance of multiple, small, soft, yellowish papules and, unlike PXE, without systemic complications or increasing mortality.[4] Histopathologically, they are characterized by loss or marked reduction of the elastic fibers in the papillary dermis and foci of increased reticular dermal elastic tissue in the latter.[5] To our knowledge, very limited number of cases had been reported worldwide, especially in the Middle East.
Table 1: Differential diagnosis of soft, yellow papules in body's flexures

Click here to view


Here, we report a case series of five patients to highlight that PXE-PDE and FDE are more underdiagnosed, rather than rare disorders. Histological examination of the skin should be an adequate initial step in diagnosing patients presenting with yellowish skin-colored papules, without the need to do further unnecessary laboratory tests; this in turn will decrease the health-care costs.


   Case Reports Top


Case 1

A 71-year-old female presented with a 1–2-year history of asymptomatic skin-colored to yellow papules coalescing into plaques on both sides of the neck [Figure 1]. No other body sites were involved. The patient was otherwise healthy, with no other systemic complaints. Given the clinical resemblance to PXE, an ophthalmology consult was performed to rule out the presence of angioid streaks. The eye examination was normal.
Figure 1: Skin-colored to yellow papules on the lateral side of the neck. Representative photo of pseudoxanthoma elasticum-papillary dermal elastolysis

Click here to view


Case 2

A 77-year-old female presented with a 4-year history of gradual appearance of small skin-colored papules, measuring 2–3 mm, with a cobblestone appearance covering the patient's neck and the upper chest bilaterally. Her medical history included rheumatoid arthritis, psoriasis, inflammatory bowel syndrome, and hypertension. However, other systemic examinations were unremarkable, especially for eye, cardiac, or gastrointestinal systems.

Case 3

A 68-year-old female with no significant medical history presented to the clinic with asymptomatic cutaneous lesions for around 16 years. Physical examination revealed numerous tan to yellowish soft papules over the lateral side of the patient's neck, measuring 2–3 mm [Figure 2]. The patient had no systemic symptoms and was otherwise healthy.
Figure 2: Skin-colored to tan papules on the lateral side of the neck. Representative photo of focal dermal elastosis

Click here to view


Histopathology of cases (1–3)

A skin punch biopsy was performed, and the hematoxylin and eosin (H and E) sections revealed a normal-appearing epidermis [Figure 3]. The dermis was also relatively normal. An elastin stain was performed and revealed the absence of elastic fibers in the papillary dermis. The reticular dermis showed irregular, variably thickened, and distorted elastic fibers. No associated calcification was encountered [Figure 4].
Figure 3: Biopsy specimen of the relatively normal-appearing epidermis and dermis (H and E, ×200). Representative photo of pseudoxanthoma elasticum-papillary dermal elastolysis

Click here to view
Figure 4: An elastin stain showing decreased elastic fibers in the papillary dermis (×20). Representative photo of pseudoxanthoma elasticum-papillary dermal elastolysis

Click here to view


Case 4

A 61-year-old female patient presented to the clinic with a 2-year history of slowly progressive itchy skin lesions after spraying perfumes. Her medical history included diabetes mellitus Type 2, hypertension, asthma, and osteoarthritis. On physical examination, there were multiple symmetrically distributed, skin-colored to yellowish papules, around 2–3 mm, on the lateral and anterior sides of the patient's neck, upper chest, and the antecubital fossa of both forearms. There was no history of sun exposure or family history of similar cutaneous manifestation.

Case 5

A 62-year-old female patient, a heavy smoker for 40 years and a known case of chronic obstructive pulmonary disease, visited the clinic with a 5-year history of an asymptomatic eruption on the neck. Physical examination revealed numerous soft, oval-to-round, tan papules, measured few millimeters in diameter, with a symmetric distribution around the neck area. Echocardiography was unremarkable. The ophthalmologic examination was normal. Moreover, no family history of similar skin conditions was recorded, and no history of sun exposure preceded the eruption.

Histopathology of case 4 and 5

H and E section and elastin stain revealed increased elastic fibers in the mid and deep dermis, with no calcification being evident [Figure 5] and [Figure 6].
Figure 5: Biopsy specimen revealed normal-appearing epidermis and dermis (H and E, ×200). Representative photo of focal dermal elastosis

Click here to view
Figure 6: An elastin tissue stain showing increased aggregates of elastic fibers in the reticular dermis without calcification (x100). Representative photo of pseudoxanthoma elasticum-papillary dermal elastolysis

Click here to view



   Discussion Top


We report a case series of five patients with acquired elastic tissue disorders seen from November 2016 to March 2017 at the dermatology outpatient department [Table 2]. We thought that PXE-PDE and FDE are underdiagnosed, rather than rare dermatological disorders. However, to our knowledge, <30 cases have been reported since the first case was described in 1992[6] and much less in the Middle East region.
Table 2: Demographic characteristics and clinical features of the studied patients

Click here to view


PXE-PDE is clinically characterized by the appearance of progressive multiple, asymptomatic, nonfollicular, skin-colored papules that tend to coalesce to form plaque with cobblestone appearance, typically affecting patients in their 6th decade of life.[3] The lesions manifest mainly on the lateral sides of the neck above the clavicles, axilla, and antecubital fossa, and to a lesser extent, the abdomen, in a symmetrical distribution.[4] While the lesions appeared on the sun-exposed areas, none of our cases reported prolonged or abnormal sun exposure even at their homes; nonetheless, all our patients wear a hijab which impedes sun exposure at the sites affected. This supports theories which state that ultraviolet radiation is an independent factor for disease pathogenicity.[4],[7] On the other hand, our presentation of three cases of postmenopausal female patients in their 7th to 8th decades of life suggests that aging is a potential etiological factor. All cases reported a negative family history of similar condition in other family members. Yet, the pathogenesis is still unclear. Intrinsic aging or abnormal elastogenesis are theories that have been raised to explain disease occurrence.[8] The biopsy of PXE-PDE reveals decrease or complete loss of elastic fibers in the papillary dermis which are neither fragmented nor calcified as seen in PXE.[2] Nonetheless, elastophagocytosis was suggested to be the mechanism for the loss of elastic fibers, not only as observed in our patient in case 2 but also as reported by others.[9]

Another differential diagnosis to be considered when facing a similar clinical presentation is FDE. Although the clinical presentation is the same as PXE-PDE, the main distinguishing feature is increasing normal elastic fibers in the mid and deep dermis histologically. Marked reduction in the age-related growth-regulating gene activity seems to be an attractive explanation postulated by some authors.[7],[10]


   Conclusion Top


We thought that approaching these patients with a skin biopsy could be a sufficient and initial tool for diagnosis. Later, involving a multidisciplinary team might be done if the histological features of PXE were observed. Following this approach might lead to significant reduction in the health-care cost.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for 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.
Roach ES, Islam MP. Pseudoxanthoma elasticum. Handb Clin Neurol 2015;132:215-21.  Back to cited text no. 1
    
2.
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. 2
    
3.
Lewis KG, Bercovitch L, Dill SW, Robinson-Bostom L. Acquired disorders of elastic tissue: Part I. Increased elastic tissue and solar elastotic syndromes. J Am Acad Dermatol 2004;51:1-21.  Back to cited text no. 3
    
4.
Rongioletti F, Izakovic J, Romanelli P, Lanuti E, Miteva M. Pseudoxanthoma elasticum-like papillary dermal elastolysis: A large case series with clinicopathological correlation. J Am Acad Dermatol 2012;67:128-35.  Back to cited text no. 4
    
5.
Frencken KJ, Hacking MN, Brinkhuizen T, Abdul Hamid MA, Martens H. Soft yellowish papules on the neck: A clinicopathological challenge. Clin Exp Dermatol 2016;41:218-20.  Back to cited text no. 5
    
6.
Rongioletti F, Rebora A. Pseudoxanthoma elasticum-like papillary dermal elastolysis. J Am Acad Dermatol 1992;26:648-50.  Back to cited text no. 6
    
7.
Wang AR, Fonder MA, Telang GH, Bercovitch L, Robinson-Bostom L. Late-onset focal dermal elastosis: An uncommon mimicker of pseudoxanthoma elasticum. J Cutan Pathol 2012;39:957-61.  Back to cited text no. 7
    
8.
Rongioletti F, Rebora A. Fibroelastolytic patterns of intrinsic skin aging: Pseudoxanthoma-elasticum-like papillary dermal elastolysis and white fibrous papulosis of the neck. Dermatology 1995;191:19-24.  Back to cited text no. 8
    
9.
Hashimoto K, Tye MJ. Upper dermal elastolysis: A comparative study with mid-dermal elastolysis. J Cutan Pathol 1994;21:533-40.  Back to cited text no. 9
    
10.
Kossard S. Pseudoxanthoma-like late-onset focal dermal elastosis. Australas J Dermatol 2005;46:47-50.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]
 
 
    Tables

  [Table 1], [Table 2]



 

Top
Print this article  Email this article
 
 
  Search
 
  
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Article in PDF (2,549 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  


    Abstract
   Introduction
   Case Reports
   Discussion
   Conclusion
    References
    Article Figures
    Article Tables

 Article Access Statistics
    Viewed67    
    Printed0    
    Emailed0    
    PDF Downloaded11    
    Comments [Add]    

Recommend this journal