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CASE REPORT
Year : 2019  |  Volume : 20  |  Issue : 1  |  Page : 68-70

Pebbled skin over axilla and umbilicus


1 Department of Dermatology, HBT Medical College and Cooper Hospital, Mumbai, Maharashtra, India
2 Department of Dermatology, KEM Hospital and Seth GS Medical College, Mumbai, Maharashtra, India

Date of Web Publication14-Dec-2018

Correspondence Address:
Dr. Yogesh Kalyanpad
KEM Hospital and Seth GS Medical College, Mumbai, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_58_18

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  Abstract 


Pseudoxanthoma elasticum or Grönblad–Strandberg syndrome is characterized by progressive calcification and degeneration of the elastic fibers throughout the body. They are noted in the second or third decade and comprise flat-topped, discrete-to-confluent yellowish papules in a linear or reticular pattern over flexures, and periumbilical skin giving a “cobblestone,” “plucked chicken skin,” or “Moroccan leather” appearance. We report a case of 13-year-old-child with yellowish pebbled skin over axilla and umbilicus. Angioid streaks were present on ophthalmological examination. On histopathology, fragmented and curled fibers were present in the dermis giving ravelled wool appearance. Von Kossa and Verhoeff-van gieson stain fibers stains showed calcified and fragmented elastic fibers in the mid-dermis.

Keywords: Angioid streaks, elastin fibers, pseudoxanthoma elasticum


How to cite this article:
Agrawal A, Kalyanpad Y. Pebbled skin over axilla and umbilicus. Indian J Paediatr Dermatol 2019;20:68-70

How to cite this URL:
Agrawal A, Kalyanpad Y. Pebbled skin over axilla and umbilicus. Indian J Paediatr Dermatol [serial online] 2019 [cited 2019 Apr 19];20:68-70. Available from: http://www.ijpd.in/text.asp?2019/20/1/68/247558




  Introduction Top


Pseudoxanthoma elasticum is characterized by progressive calcification and degeneration of the elastic fibers throughout the body. Cutaneous lesions typically begin in childhood or early adolescence; but due to asymptomatic nature, diagnosis is delayed by an average of 9 years. Prevalence is 1 case per 25,000–100,000.


  Case Report Top


A 13-year-old-boy born out of nonconsanguineous marriage presented to us with yellowish asymptomatic lesions over the nape of the neck, axilla, and abdomen for about 6 years. There were no associated systemic complaints. The family history revealed no such complaints in parents and siblings. General and systemic examination was within normal limits. Blood pressure was 110/70 mm of Hg and serum creatinine, and blood urea nitrogen was within normal limit. On cutaneous examination, 1–5 mm small, yellow papules arranged in reticular pattern, and coalescing to form plaques over axilla and umbilicus [Figure 1] and [Figure 2]. Soft, lax, and wrinkled skin were present over the neck. Ophthalmological examination revealed angioid streaks. ECHO was normal. On histopathology, fragmented and curled fibers were present in the dermis [Figure 3] giving ravelled wool appearance [Figure 4]. On von Kossa [Figure 5] and Verhoeff-van gieson stain [Figure 6], fibers-stained positive for calcium and elastin, respectively. On the basis of clinical and histopathological examination, diagnosis of pseudoxanthoma elasticum (PXE) was made.
Figure 1: Skin-colored to yellowish, discrete, and confluent papules and plaques over the axilla

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Figure 2: Skin-colored to yellowish, discrete, and confluent papules and plaques over the umbilicus

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Figure 3: Hematoxylin and eosin stain showing clumped and degenerate elastic fibers in the dermis (×10)

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Figure 4: Hematoxylin and eosin stain showing clumped and degenerate elastic fibers giving ravelled wool appearance (×40)

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Figure 5: Degenerated and calcified elastin fibers stained with von Kossa (×10)

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Figure 6: Swollen and irregularly clumped elastic fibers stained with Verhoeff-van gieson stain (×10)

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  Discussion Top


PXE is a rare genetic disorder characterized by elastorrhexia, or progressive calcification and fragmentation of elastic fibers primarily involves skin, retina, and cardiovascular system.[1] The condition was first described by the French dermatologist Rigalin 1881. It is transmitted mainly as autosomal recessive. Mutations mapped to ABCC6 gene on chromosome 16p13.1 which encodes a multidrug-resistant protein.[2] Prevalence is 1 case per 25,000–100,000 and female-to-male ratio is 2:1. The average age of onset is 13 years, but do not become recognizable until the second or third decade of life.

Cutaneous changes are usually the first manifestation classically arising on the lateral aspect of the neck like plucked chicken, moroccan leather, or cobblestone appearance later involve antecubital fossae; axillae, popliteal fossa, inguinal and periumbilical areas, oral mucosa (involving the lower lip, cheek, and palate), and vaginal and rectal mucosa. As the disease advances, the skin of the neck, the axillae, and the groin may become soft, lax, and wrinkled, hanging in folds. Horizontal and oblique mental creases before age 30 years are highly specific for PXE.

Angioid streaks are present in 85% of patients with PXE.[3] The characteristic is angioid streaks of the retina, which are slate gray to reddish brown curvilinear bands that radiate from the optic disc. Angioid streaks can serve as a nidus for choroidal neovascularization, which is associated with retinal hemorrhage and a poor prognosis if left untreated. Loss of central vision is progressive with each hemorrhage; however, peripheral vision is spared. Cardiovascular manifestations, except for intermittent claudication, are usually the last complications to be recognized.[4] In adults, peripheral pulses are often severely diminished. Renal artery involvement can lead to hypertension. Coronary artery disease and mitral valve prolapse may occur.

On H and E stains, elastic fibers appear basophilic due to calcium deposition. The fibers are fragmented, swollen, and clumped in the middle and deep reticular dermis. Other differential diagnoses could be cutis laxa, dermatofibrosis lenticularis, elastosis perforans serpiginosum, generalized arterial calcification of infancy, genetics of  Ehlers-Danlos syndrome More Details, localized acquired cutaneous PXE, long-term penicillamine therapy, Marfan Syndrome, papillary dermal elastolysis, and papular elastorrhexis.

Treatment includes smoking cessation, moderate physical exercise, avoid heavy lifting, straining, and activities that may predispose them to head trauma, which increases the risk of retinal hemorrhage. Excessive dietary calcium should be avoided in childhood and adolescence. Appropriate diet with supplemented magnesium, phosphate binders, and pyrophosphate analogs is recommended.[5] Many of the changes are irreversible. Redundant sagging folds can be corrected by surgical excision. Mental creases by collagen and autologous fat injections, fractional CO2 laser treatment for cosmetic appearance. Intermittent claudication is best managed by weight reduction and an exercise program to stimulate collateral blood vessel development. Fundus examinations are recommended every 2 years for those younger than 40 years and twice a year for those older than 40 years.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that name and initial will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Uitto J. Rare heritable skin diseases: Targets for regenerative medicine. J Invest Dermatol 2012;132:2485-8.  Back to cited text no. 1
    
2.
Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, et al. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet 2007;44:621-8.  Back to cited text no. 2
    
3.
Georgalas I, Papaconstantinou D, Koutsandrea C, Kalantzis G, Karagiannis D, Georgopoulos G, et al. Angioid streaks, clinical course, complications, and current therapeutic management. Ther Clin Risk Manag 2009;5:81-9.  Back to cited text no. 3
    
4.
Campens L, Vanakker OM, Trachet B, Segers P, Leroy BP, De Zaeytijd J, et al. Characterization of cardiovascular involvement in pseudoxanthoma elasticum families. Arterioscler Thromb Vasc Biol 2013;33:2646-52.  Back to cited text no. 4
    
5.
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.  Back to cited text no. 5
    


    Figures

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



 

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