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X-linked reticulate pigmentary disorder with systemic manifestations: A new family and review of the literature

Authors

  • Lidia Pezzani,

    1. Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy
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  • Michela Brena,

    1. Center for Inherited Cutaneous Diseases, Department of Pediatric Dermatology, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico di Milano, University of Milan, Milan, Italy
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  • Michele Callea,

    1. Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste, Italy
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  • Marina Colombi,

    1. Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy
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  • Gianluca Tadini

    Corresponding author
    1. Department of Pediatric Clinic 1, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico di Milano, University of Milan, Milan, Italy
    • Center for Inherited Cutaneous Diseases, Department of Pediatric Dermatology, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico di Milano, University of Milan, Milan, Italy
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  • Conflict of interest: None declared.

Correspondence to:

Dr. Gianluca Tadini, MD,

Center for Inherited Cutaneous Diseases, Department of Pediatric Dermatology, University of Milan, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Via Pace, 9, Milano 20122, Italy. E-mail: gtadinicmce@unimi.it

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. © 2013 Wiley Periodicals, Inc.

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