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X‐linked reticulate pigmentary disorder with systemic manifestations: A new family and review of the literature
Author(s) -
Pezzani Lidia,
Brena Michela,
Callea Michele,
Colombi Marina,
Tadini Gianluca
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35882
Subject(s) - genodermatosis , reticulate , dermatology , hyperpigmentation , pigmentation disorder , medicine , inheritance (genetic algorithm) , incontinentia pigmenti , pathology , genetics , biology , gene , botany
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.