Manifestations of pseudoxanthoma elasticum in childhood

Abstract

Background Pseudoxanthoma elasticum (PXE) affects the skin, retina and cardiovascular system. Most cases are related to mutations in the ABCC6 gene. The diagnosis is most often made late in the second or third decade of life. Objectives To describe the manifestations of PXE before the age of 15 years. Methods Children under age 15 years with definite PXE were evaluated at a PXE referral centre, as were adult patients in whom serious manifestations of PXE had occurred before the age of 15 years. Results Our series included 96 patients; 15 (16%) had paediatric onset of the disease. Nine children were diagnosed at a mean age of 10 years, a mean of 2AE5 years after the presenting symptoms. Cutaneous lesions were the presenting symptoms in eight. None had cardiovascular or ophthalmological symptoms. Six adult patients had had severe cutaneous and/or cardiovascular manifestations before the age of 15 years. Both adult patients with early extensive skin lesions had the PXE-like condition related to the GGCX gene. No ocular symptoms were recorded during childhood. Conclusions Cutaneous manifestations of PXE are the same in children as in young adults. Absence of complications is common in childhood, but severe complications are unpredictable. The frequency of complications was retrospectively estimated to be 7% in the adults of our series, although this figure was probably an overestimate because of the recruitment bias in a referral centre. It is, however, important to consider PXE in the paediatric setting, as early diagnosis may be important to provide accurate information and discuss lifestyle adjustments in order to improve the prognosis of the disease.

Cutis laxa: A review

“…124 Patients J AM ACAD DERMATOL VOLUME 66,NUMBER 5 demonstrate yellow, xanthoma-like plaques on the neck and flexural folds (Fig 7, D). [124][125][126] As PXE progresses, the skin loses elasticity. Other features include yellow papules on the inner lower lip and elastosis perforans serpiginosa.…”

Pseudoxanthoma Elasticum: A Pediatric Case

“…Bizim olgumuzda da doğuşta deri belirtileri yoktu. Tanı sıklıkla ikinci veya üçüncü dekatta konulur (12). Olgumuza birinci dekatta tanı konuldu.…”

“…Doksan altı hastanın dahil edildiği bir çalışmada incelenen dokuz çocuk hastada göz bulguları açısından asemptomatik olmalarına karşın, retinada peau d'orange bulgusu tespit edilmiştir. Hiçbirinde anjiyoid çizgiler gözlenmemiştir (12). Gözde anjiyoid çizgi prevelansı Kardiyovasküler komplikasyonlara renovasküler hipertansiyon, serebral kanama, koroner tıkanma, valvüler değişikliklerden özellikle mitral valv prolapsusu, oklüzif vasküler hastalık örnek verilebilir (1,8,12).…”

“…Hiçbirinde anjiyoid çizgiler gözlenmemiştir (12). Gözde anjiyoid çizgi prevelansı Kardiyovasküler komplikasyonlara renovasküler hipertansiyon, serebral kanama, koroner tıkanma, valvüler değişikliklerden özellikle mitral valv prolapsusu, oklüzif vasküler hastalık örnek verilebilir (1,8,12). Potansiyel olarak en ciddi komplikasyon ateroskleroz oluşumudur (9).…”

“…Potansiyel olarak en ciddi komplikasyon ateroskleroz oluşumudur (9). Literatürde bildirilen dokuz çocuk hastanın hiçbirinde kardiyak ve arterial semptom bulunmamıştır (12).…”