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Dermatology ; 219(2): 155-7, 2009.
Article in English | MEDLINE | ID: mdl-19439921

ABSTRACT

A pronounced linear eruption with ulcerations and calcium extrusion present in a boy with a mild generalized rash clinically consistent with juvenile dermatomyositis or overlap syndrome is reported. Loss of heterozygosity (LOH) is a postzygotic mechanism by which a heterozygous somatic cell may become homozygous or hemizygous at a given gene locus. Such a mechanism can be suspected when a pronounced segmental manifestation of an acquired skin condition with a polygenic background is found to be superimposed on more or less symmetrically distributed nonsegmental lesions of the same disorder. Alternatively, such a segmental manifestation may reflect heterozygosity for a postzygotic mutation involving an additional gene locus. The severe linear lesions in our patient showed a Blaschko-linear arrangement and were superimposed on mild nonsegmental lesions of either amyopathic dermatomyositis or overlap syndrome. Either LOH or a postzygotic mutation at an additional gene locus may explain the pronounced linear involvement.


Subject(s)
Calcinosis/pathology , Dermatomyositis/pathology , Genetic Predisposition to Disease , Skin Diseases, Genetic/pathology , Biopsy, Needle , Calcinosis/drug therapy , Calcinosis/genetics , Child , Colchicine/therapeutic use , Dermatomyositis/drug therapy , Dermatomyositis/genetics , Disease Progression , Drug Therapy, Combination , Follow-Up Studies , Humans , Hydroxychloroquine/therapeutic use , Immunohistochemistry , Male , Risk Assessment , Severity of Illness Index , Skin Diseases, Genetic/drug therapy , Treatment Outcome
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