Phacomatosis Pigmentovascularis Revisited and Reclassified

Abstract

To provide a new comprehensible and practicable classification by use of descriptive terms to distinguish the various types of phacomatosis pigmentovascularis (PPV), which has previously been classified by numbers and letters that are difficult to memorize.Study Selection: Published case reports on PPV were reassessed. Data Extraction and Data Synthesis:A critical review revealed that only 3 well-established types of PPV so far exist. To eliminate the cumbersome traditional classification by numbering and lettering, the following new terms are proposed: phacomatosis cesioflammea (blue spots [caesius=bluish gray] and nevus flammeus); phacomatosis spilorosea (nevus spilus coexisting with a palepink telangiectatic nevus), and phacomatosis cesiomar-morata (blue spots and cutis marmorata telangiectatica congenita). Phacomatosis cesioflammea is identical with the traditional types IIa and IIb; phacomatosis spilorosea corresponds to types IIIa and IIIb; and phacomatosis cesiomarmorata is a descriptive term for type V. A categorical distinction of cases with and without extracutaneous anomalies seems inappropriate. The traditional type I does not exist, and the extremely rare traditional type IV is now included in the group of unclassifiable forms. Conclusion:The proposed new classification of PPV by using 3 descriptive terms may be easier to memorize compared with the time-honored grouping of in part not even existing subtypes by numbers and letters.

Clinical characteristics and treatment of 52 cases of phakomatosis pigmentovascularis

“…We could not determine a suitable type according to the prevailing traditional classification of PPV. In line with our study, Happle 16 proposed a revised classification in 2005, which does not make a distinction between subtypes "a" and "b". Furthermore, some cases of PPV that cannot be ascribed to previous classification were designated as PPV, unclassifiable type.…”

Phacomatosis pigmentovascularis spilorosea and mutation in the PTPN11 gene: new case with significant neurologic impairment

“…Contrary to these reports, our case displayed a significant cerebral vascular involvement as well as arteriovenous fistulae in the right leg, configuring an entity that might be considered close to the capillary malformation-arteriovenous malformation syndrome (CMV-AV), caused by heterozygous RASA1 germline mutations, and characterized by capillary and arteriovenous malformations both in the skin and in the viscera. Concerning genetic background, our study corroborates the hypothesis by which the cutaneous and the vascular abnormalities of PPV-SR originate from a single pleiotropic somatic PTPN11 gene mutation, confuting the previous idea of nonallelic didymosis [5]. PTPN11 encodes SHP2, a non-receptor protein tyrosine phosphatase that has a complex regulatory function in intracellular signaling.…”

Framing phacomatosis spilorosea

“…The three dozen cases reported to date, gathered and analysed for the first time herein, further support the concept of PSR as an autonomous and complex entity within the heterogeneous and ill‐defined phacomatosis pigmentovascularis spectrum 3 …”