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Linear Porokeratosis Associated with Disseminated Superficial Actinic Porokeratosis: A New Example of Type II Segmental Involvement
Author(s) -
Boente María del Carmen,
LópezBaró Ana M.,
Frontini María del Valle,
Asial Raúl A.
Publication year - 2003
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2003.20613.x
Subject(s) - loss of heterozygosity , medicine , dyskeratosis , dermatology , family history , hyperkeratosis , porokeratosis , pathology , genetics , allele , biology , surgery , gene
The coexistence of linear porokeratosis (LP) and disseminated superficial actinic porokeratosis (DSAP) in a 3‐year‐old girl with a family history of DSAP is presented. Happle proposed loss of heterozygosity (LOH) to explain the origin of this unusual phenomenon. Homozygosity would explain why lesions in LP are far more pronounced than those of the associated heterozygous DSAP lesions. LOH would also explain the early age of presentation of the linear lesions, the family history of DSAP, and why LP cases are particularly prone to malignant transformation. This case is also important for molecular studies because of the presence of heterozygous and homozygous mutated cells in the same patient and the familial occurrence of the heterozygous form of the disease.