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Paediatric pseudoxanthoma elasticum with cardiovascular involvement
Author(s) -
Li Q.,
Baker J.,
Kowalczyk J.,
Jiang Q.,
Uitto J.,
Schachner L.
Publication year - 2013
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/bjd.12462
Subject(s) - pseudoxanthoma elasticum , medicine , dermatology , pathology
Summary Background Pseudoxanthoma elasticum ( PXE ) is characterized by aberrant mineralization of connective tissues, causing considerable morbidity and mortality. The disease is typically of late onset, the skin manifestations first being noted in the teens or later. Another aberrant mineralization disorder, generalized arterial calcification of infancy ( GACI ), is present at birth and can demonstrate a phenotypic overlap with PXE . Objectives A patient with PXE was noted to have skin findings as early as at 6 years of age, with cardiovascular involvement. The purpose of this study was to examine the genetic basis of this phenotypic presentation in the spectrum of PXE / GACI . Methods The patient's genotype was studied by sequencing ABCC 6 and ENPP 1 , genes known to be associated with PXE and/or GACI . Results Screening of the ABCC 6 gene revealed two pathogenetic mutations, p.R1141X and g.del23–29. Analysis of the ENPP 1 gene failed to demonstrate the presence of mutations. Conclusions This study demonstrates the presence of cutaneous findings of PXE in an 8‐year‐old paediatric patient, with cardiovascular involvement, illustrating the phenotypic spectrum of PXE .