Premium
Manifestations of pseudoxanthoma elasticum in childhood
Author(s) -
Naouri M.,
Boisseau C.,
Bonicel P.,
Daudon P.,
Bonneau D.,
Chassaing N.,
Martin L.
Publication year - 2009
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2009.09298.x
Subject(s) - pseudoxanthoma elasticum , medicine , pediatrics , referral , disease , angioid streaks , age of onset , dermatology , young adult , surgery , pathology , visual acuity , family medicine , choroidal neovascularization
Summary 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 2·5 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.