title: Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis.
abstract: Phylloid hypomelanosis is a distinct type of pigmentary mosaicism characterized by congenital hypochromic macules resembling a floral ornament with various elements such as round or oval patches, asymmetrical macules similar to begonia leaves, or oblong lesions. It has been found to be predominantly associated with abnormalities in chromosome 13 and sometimes as-sociated with different extracutaneous abnormalities. Here, we report 2 new cases of phylloid hypomelanosis due to mosaicism involving chromosome 13. The first one is a mosaicism for a supernumerary marker belonging to chromosome 13 and the second one is the first report of phylloid hypomelanosis associated with a mosaic deletion of 13q. Because of the extremely low level of mosaicism in these 2 cases, SNP array analysis on skin fibroblasts was carried out, showing a 13q21.33-q34 duplication (71,024,411-115,103,529) and a 13q13.3-q34 (38,368,012-115,103,529) deletion. Both cases underline on the one hand the strict connection between phylloid hypomelanosis and anomalies of chromosome 13, and on the other hand the relevance of the SNP array analysis on skin fibroblasts in the detection of low-level mosaicism.
authors.affiliation: Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', Trieste, Italy. faletra@burlo.trieste.it
authors.forename: F
authors.initials: F
authors.lastname: Faletra
authors.forename: I
authors.initials: I
authors.lastname: Berti
authors.forename: A
authors.initials: A
authors.lastname: Tommasini
authors.forename: V
authors.initials: V
authors.lastname: Pecile
authors.forename: L
authors.initials: L
authors.lastname: Cleva
authors.forename: E
authors.initials: E
authors.lastname: Alberini
authors.forename: I
authors.initials: I
authors.lastname: Bruno
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
mesh_terms: D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D006801:Humans; D017496:Hypopigmentation / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009030:Mosaicism; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D020641:Polymorphism, Single Nucleotide