Pronounced Linear Calcinosis in a Boy with Mild Dermatomyositis

Autor:	María del Carmen Boente, Graciela Nadra, Raul A. Asial, Rudolf Happle
Rok vydání:	2009
Předmět:	Pathology medicine.medical_specialty Systemic disease business.industry Overlap syndrome Dermatology Postzygotic mutation Dermatomyositis medicine.disease Connective tissue disease Loss of heterozygosity Calcinosis medicine business Juvenile dermatomyositis
Zdroj:	Dermatology. 219:155-157
ISSN:	1421-9832 1018-8665
Popis:	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.
Databáze:	OpenAIRE
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