Phakomatosis Pigmentovascularis

Preparation and characterization of chitosan‐coated hydroxyapatite nanoparticles as a promising non‐viral vector for gene delivery

“…However, close monitoring of the psychomotor development is requested for confirming this impression. Good prognosis was also supported by the marked regression of the cutaneous birthmarks at 1‐month follow‐up, a finding in according with previous reports [Ruiz‐Maldonado et al, 2008]. Although some authors described successful application of laser therapy in PPV [Ono and Tateshita, 2000; Kono et al, 2003], in consideration of the young age of the patient and spontaneous amelioration of the skin features, we decided on a “wait and see” attitude.…”

“…Phacomatosis pigmentovascularis (PPV) is a group of rare congenital skin disorders combining extensive nevi of the capillary type, and various forms of (epi)dermal melanocytosis, with or without additional cutaneous and extracutaneous features [Ruiz‐Maldonado et al, 2008]. A revised classification identifies three major types of PPV, including phacomatosis cesioflammea (i.e., nevus flammeus plus extensive/aberrant Mongolian spots), spilorosea (i.e., pale capillary nevus plus macular nevus spilus), and cesiomarmorata (i.e., cutis marmorata telangiectatica congenita plus extensive/aberrant Mongolian spots) [Happle, 2005].…”

Monozygotic twin discordance for phacomatosis cesioflammea further supports the post‐zygotic mutation hypothesis

“…However, close monitoring of the psychomotor development is requested for confirming this impression. Good prognosis was also supported by the marked regression of the cutaneous birthmarks at 1-month follow-up, a finding in according with previous reports [Ruiz-Maldonado et al, 2008]. Although some authors described successful application of laser therapy in PPV [Ono and Tateshita, 2000;Kono et al, 2003], in consideration of the young age of the patient and spontaneous amelioration of the skin features, we decided on a ''wait and see'' attitude.…”

“…Phacomatosis pigmentovascularis (PPV) is a group of rare congenital skin disorders combining extensive nevi of the capillary type, and various forms of (epi)dermal melanocytosis, with or without additional cutaneous and extracutaneous features [Ruiz-Maldonado et al, 2008]. A revised classification identifies three major types of PPV, including phacomatosis cesioflammea (i.e., nevus flammeus plus extensive/aberrant Mongolian spots), spilorosea (i.e., pale capillary nevus plus macular nevus spilus), and cesiomarmorata (i.e., cutis marmorata telangiectatica congenita plus extensive/aberrant Mongolian spots) [Happle, 2005].…”

Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke–Davidoff–Masson type in two patients

“…Congenital pigmentary and/or vascular disturbances arranged in a patchy, linear, or otherwise mosaic forms are often associated with extracutaneous anomalies consistent with underlying genetic mosaicism [Happle, 1999, 2002; Torrelo et al, 2005; Ruggieri et al, 2008b]. The term twin spotting has been used for some of these human phenotypes, characterized by the spatial and temporal co‐occurrence of two (or more) different nevi arranged in variable cutaneous patterns that do not necessarily adhere to Blaschko's lines [Happle, 1999, 2002; Torrelo et al, 2005; Ruiz‐Maldonado et al, 2008]. From experiments performed in plants and animals, it is known that twin spotting may arise from either allelic or non‐allelic mutations [Vig, 1973; Harrison and Carpenter, 1977; Molho‐Pessach and Schaffer, 2011].…”