Pseudoxanthoma elasticum: Significance of limited phenotypic expression in parents of affected offspring

The inheritance pattern of pseudoxanthoma elasticum (PXE) is controversial. Inheritance patterns are confounded by delayed diagnosis and mild or limited phenotypic expression among certain family members. Because testing for the genetic mutation(s) responsible for PXE is not routine, genetic counsel...

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Bibliographic Details
Published in:Journal of the American Academy of Dermatology 2001-03, Vol.44 (3), p.534-537
Main Authors: Sherer, Daniel W., Bercovitch, Lionel, Lebwohl, Mark
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age of Onset
Aged
Biological and medical sciences
Biopsy
Diagnosis, Differential
Eye Diseases - genetics
Eye Diseases - pathology
Female
Humans
Male
Medical sciences
Middle Aged
Pedigree
Phenotype
Pseudoxanthoma Elasticum - genetics
Pseudoxanthoma Elasticum - pathology
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
Skin Diseases - pathology
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Summary:The inheritance pattern of pseudoxanthoma elasticum (PXE) is controversial. Inheritance patterns are confounded by delayed diagnosis and mild or limited phenotypic expression among certain family members. Because testing for the genetic mutation(s) responsible for PXE is not routine, genetic counseling must be done with caution. We describe 4 families in which one or more children were diagnosed with PXE. Detailed examination of the parents was carried out, including skin biopsy and ophthalmologic examination. In 3 of the 4 families, one parent had limited phenotypic expression, such as ocular findings without skin lesions or very mild skin lesions with no ocular findings. In the other family, one parent had very mild skin and ocular disease. All 4 affected parents had diagnostic skin biopsy findings. In none of the 4 families was the inheritance pattern clear-cut. Although the inheritence pattern of PXE has been debated, clinically significant stigmata of PXE, which are not always readily apparent, can occur in successive generations. Therefore all first-degree relatives of affected patients should receive a full dermatologic examination as well as a funduscopic examination. If even mild typical skin or eye findings are present, then skin biopsy should be performed. (J Am Acad Dermatol 2001;44:534-7.)
ISSN:0190-9622
1097-6787
DOI:10.1067/mjd.2001.112401