LETTER TO THE EDITOR Year : 2022  |  Volume : 16  |  Issue : 4  |  Page : 131-134

Dermoscopy of pseudoxanthoma elasticum

Bhagyashree B Supekar, Pallavi R Rokade, Jayesh I Mukhi
Department of Dermatology, Venereology and Leprology, Government Medical College & Hospital, Nagpur, Maharashtra, India

Date of Submission09-Mar-2022Date of Decision15-Apr-2022Date of Acceptance24-Mar-2022Date of Web Publication28-Nov-2022

Correspondence Address:
Dr. Bhagyashree B Supekar
Department of Dermatology, Venereology and Leprology, Government Medical College and Hospital, Nagpur, Maharashtra 440003
India

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/tjd.tjd_44_22

How to cite this article:
Supekar BB, Rokade PR, Mukhi JI. Dermoscopy of pseudoxanthoma elasticum. Turk J Dermatol 2022;16:131-4

Sir,

Pseudoxanthoma elasticum (PXE), also known as Gronblad-Strandberg syndrome, is an inherited rare disorder characterized by the aberrant mineralization of soft tissue and the fragmentation of elastic fibers, which results in multiorgan disorder primarily involving the skin, eyes, and cardiovascular system.[1] The basic defect in PXE lies on the short arm of chromosome 16p13, and it is caused by mutation in ABCC6 (ATP-binding cassette) gene.[2]

A 21-year-old woman presented with complaints of asymptomatic yellowish raised lesions over sides of neck and axilla, gradually progressing since 7 years. No similar complaints were present in family members. General and systemic examination was normal. Cutaneous examination revealed multiple symmetrically distributed, confluent yellowish papules arranged in a linear and reticulate pattern coalescing to form plaques, giving it a cobblestone appearance, present over lateral and anterior aspects of neck and axilla [Figure 1]. The rest cutaneous examination was normal.

Figure 1: Multiple symmetrically distributed, confluent yellowish papules arranged in a linear and reticulate pattern coalescing to form plaques, with cobblestone appearance over lateral and anterior aspects of neck and axilla

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The dermoscopy of neck lesions was performed using 3Gen DermLite DL4 (CA, USA) in a 10× polarized mode, which revealed multiple irregular yellowish-white areas (clods) arranged in a linear and reticulate manner alternating with linear vessels on a light red background [Figure 2]a and b. On fundoscopy, peau d’orange appearance was seen. The rest of investigations were normal. Histopathology revealed faintly basophilic distorted (curled and frayed) elastic fibers in mid-reticular dermis. Orcein staining showed deep black colored elastic fibers with characteristic elastorrhexis. von Kossa stain confirmed the deposition of calcium in dermis [Figure 3]a–f. On the basis of aforementioned findings, a final diagnosis of PXE was reached.

Figure 2: (a) and (b) Dermoscopy of neck lesions revealed multiple irregular, yellowish-white areas/clods (black star) arranged in a linear and reticulate manner alternating with linear vessels (black arrow) on a light red background (black circle) ([a and b] dermoscopy, 10× polarized mode)

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Figure 3: (a–f) Histopathology revealed faintly basophilic distorted (curled and frayed) elastic fibers in mid-reticular dermis (Hematoxylin-eosin stain; original magnifications: a, X100; b, X400;); Orcein staining showed deep black colored elastic fibers with characteristic elastorrhexis (Orcein stain; original magnifications: c, x100; d, X400); von Kossa stain confirmed the deposition of calcium in dermis (Von Kossa stain; original magnification: e, X100; f, X400).

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The first dermoscopic description of PXE was given by Lacarrubba et al. in 2017, in which multiple irregular, yellowish areas with prominent linear vessels are depicted.[3] The yellowish white clods in PXE correspond to elastolysis or calcium deposition in mid-dermis. Purplish-red background in PXE is due to mid-dermal vasodilation. The prominent superficial linear vessels may be caused by vascular rearrangement with underlying dermal elastolysis.[4] Dermoscopy may help differentiate PXE and PXE-like papillary dermal elastolysis on the basis of color of clods and background. In the former, yellowish-white clods with light purplish red background is seen, and light-yellow clods with flesh colored background is seen in the latter.[4] Thus, dermoscopy could be useful for non-invasive early diagnosis of skin lesions of PXE. There are very few reports describing the dermoscopy of PXE in the literature [Table 1]. We report this case because of its rarity in the Indian literature.[7]

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 
1.Marconi B, Bobyr I, Campanati A, Molinelli E, Consales V, Brisigotti V, et al. Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment. Intractable Rare Dis Res 2015;4:113-22.  
    2.Martin LJ, Lau E, Singh H, Vergnes L, Tarling EJ, Mehrabian M, et al. ABCC6 localizes to the mitochondria-associated membrane. Circ Res 2012;111:516-20.  
    3.Lacarrubba F, Verzì AE, Caltabiano R, Micali G Dermoscopy of pseudoxanthoma elasticum. J Am Acad Dermatol 2017;76:69-70.  
    4.Kawashima S, Togawa Y, Miyachi H, Matsue H Dermoscopic features of pseudoxanthoma elasticum. Clin Exp Dermatol 2018;43:175-9.  
    5.Singh A, Bhari N, Bhari A Dermoscopy of pseudoxanthoma elasticum. BMJ Case Rep 2017;2017:bcr-2017-221365.  
    6.Salas-Alanis JC, Cepeda-Valdes R, Fortuna G, Li Q, Uitto J Pseudoxanthoma elasticum: Dermoscopy and mutation analysis. Australas J Dermatol 2019;60:e156-8.  
    7.Chauhan P, Sethi S, Jindal R Dermoscopy of a case of pseudoxanthoma elasticum: A step closer to diagnosis. Indian J Dermatol 2021;66:555-7.  
    
  [Figure 1], [Figure 2], [Figure 3]
 
 
  [Table 1]