title: X-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature.
abstract: X-linked reticulate pigmentation disorder with systemic manifestations (XLPDR) is an extremely rare genodermatosis with recessive X-linked inheritance but unknown molecular basis. In males, cutaneous involvement is characterized by reticulate hyperpigmentation of the skin that is associated with a typical facies and severe systemic involvement. In the carrier females, manifestations are apparently limited to the skin with patchy linear hyperpigmentation following the lines of Blaschko that are similar to stage III incontinentia pigmenti. Thus far, only five families affected by this disorder have been described. We report on a new family with clinical features of XLPDR and compare it with those reported in the literature.
authors.affiliation: Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy.
authors.forename: Lidia
authors.initials: L
authors.lastname: Pezzani
authors.forename: Michela
authors.initials: M
authors.lastname: Brena
authors.forename: Michele
authors.initials: M
authors.lastname: Callea
authors.forename: Marina
authors.initials: M
authors.lastname: Colombi
authors.forename: Gianluca
authors.initials: G
authors.lastname: Tadini
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D050172:Genes, X-Linked / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D017495:Hyperpigmentation / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D007184:Incontinentia Pigmenti / Q000150:complications / Q000235:genetics*; D008297:Male; D012867:Skin / Q000473:pathology*