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Review |

Phacomatosis Pigmentovascularis Revisited and Reclassified FREE

Rudolf Happle, MD
[+] Author Affiliations

Author Affiliations: Department of Dermatology, Philipp University of Marburg, Marburg, Germany.


Arch Dermatol. 2005;141(3):385-388. doi:10.1001/archpedi.161.4.356.
Text Size: A A A
Published online

Objective  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 pale-pink telangiectatic nevus), and phacomatosis cesiomarmorata (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.

Figures in this Article

Phacomatosis pigmentovascularis (PPV) is defined as an association of a widespread vascular nevus with an extensive pigmentary nevus.1 All types so far described can be best explained as examples of twin spotting.2,3 The prevailing classification of the various forms of PPV1 is cumbersome. How can the busy practitioner memorize the differences between type IIb and type IIIa? A recently recognized type V4,5 still adds to the confusion because there is no mnemonic value in the bare numbering and lettering of subtypes.

I propose a simplified classification by using descriptive terms. Accordingly, there are only 3 distinct types of PPV, apart from a group of unclassifiable forms. The 3 well-established forms are called phacomatosis cesioflammea, phacomatosis spilorosea, and phacomatosis cesiomarmorata (Table).

Table Graphic Jump LocationTable. Proposed New Classification of Phacomatosis Pigmentovascularis

The Greek word phakos means nevus. The term phacomatosis was originally used to characterize some neurocutaneous syndromes but is today mainly applied to genetically determined diseases characterized by the presence of 2 or more different nevi, such as “phacomatosis pigmentovascularis” or “phacomatosis pigmentokeratotica.”6 The spelling “phacomatosis” is preferable to “phakomatosis” when the term is followed by a Latin adjective.

PHACOMATOSIS CESIOFLAMMEA

This type is characterized by a coexistence of 1 or more aberrant blue spots (Mongolian spots, dermal melanocytosis) and 1 or more port-wine stains (Figure 1). The Latin word caesius means bluish gray and serves as an equivalent of the term fuscocoeroleus to describe an aberrant Mongolian spot. Phacomatosis cesioflammea is the most frequently occurring type. For example, Vidaurri-de la Cruz and colleagues7 did not find any other type in a series of 24 consecutive cases of PPV.

Place holder to copy figure label and caption
Figure 1.

Phacomatosis cesioflammea: blue spots coexisting with port-wine stains (courtesy of Ramón Ruiz-Maldonado, MD National Institute of Pediatrics, Mexico City, Mexico).

Graphic Jump Location

The vascular nevus is usually purple-red and represents a nevus flammeus in the strict sense of the word. It should be noted, however, that during the first weeks of life, this port-wine stain may still show a pale-pink color.8

The 2 skin lesions may occur without other anomalies,9 or they may be associated with central nervous system defects,10 ocular anomalies such as melanosis bulbi or glaucoma,7 asymmetrical length of limbs,11,12 dysplastic veins or lymph vessels,7,13 or nevus anemicus.14,15

PHACOMATOSIS SPILOROSEA

This type of PPV is characterized by the coexistence of nevus spilus (speckled lentiginous nevus) of a macular type and a telangiectatic nevus, which usually appears, throughout life as a pale-pink color like that of a salmon patch and unlike the purple hue of nevus flammeus (port-wine stain) (Figure 2).2,16,17

Place holder to copy figure label and caption
Figure 2.

Phacomatosis spilorosea: nevus spilus (speckled lentiginous nevus) associated with a pale-pink telangiectatic nevus (reprinted with permission from Hautarzt.2 Copyright 1989, Springer-Verlag GmbH & Co KG).

Graphic Jump Location

Hence, the present classification implies that 2 different types of lateral telangiectatic nevi exist, which are both associated with a specific type of PPV. It should be noted that authors who have reported cases of PPV have not discriminated between these 2 types of vascular nevi buthave confusingly and interchangeably used the term nevus flammeus in all patients.1619 It is important to realize that the name nevus flammeus (port-wine stain) does not apply to the rosé-wine nevus as observed in phacomatosis spilorosea. The term capillary malformation20 is likewise unsuitable because it does not differentiate between nevus flammeus and other types of vascular nevi.

The term spilus is a short Latin word to describe speckled lentiginous nevus. The name phacomatosis spilorosea is proposed because roseus means light red or pink. The disorder may occur without other anomalies,18 or it may be associated with unilateral lymphedema,2 hemiparesis,21 seizures,21 or asymmetrical length of legs resulting in scoliosis.17,22 Remarkably, however, neither nevus flammeus nor nevus anemicus appear to be associated with this type of PPV.

PHACOMATOSIS CESIOMARMORATA

This type of PPV is characterized by a coexistence of nevus caesius (blue spot, aberrant Mongolian spot) and cutis marmorata telangiectatica congenita (Figure 3). The name phacomatosis cesiomarmorata contains a brief description of the 2 skin disorders. Enjolras and Mulliken4 described a 3-month-old boy with this new “type V” PPV. Torrelo and colleagues5 observed 2 additional cases, one of which was associated with blue sclerae and slightly diminished corneae. The other case involved hyperplasia of a leg, and a computed tomographic scan showed asymmetry of hemispheres and ventricles. Hence, phacomatosis cesiomarmorata may likewise be associated with extracutaneous defects.

Place holder to copy figure label and caption
Figure 3.

Phacomatosis cesiomarmorata. A, Frontal aspect, showing multiple blue spots and flaglike areas of reticulated, marblelike erythema. B, Dorsal view, showing bluish macules intermingled with areas of cutis marmorata (reprinted with permission from Br J Dermatol.5 Copyright 2003).

Graphic Jump Location
WHY ONLY 3 WELL-DEFINED TYPES?

The traditional type I has not emerged in practice, and the conventional type IV also seems virtually absent. The historic type I was defined as concomitant nevus flammeus and nevus pigmentosus et verrucosus,1 a term that means a linear epidermal nevus with some pigmentation.19 The designation “type I” has even been used to describe an unusual co-occurrence of nevus flammeus and Becker nevus.23 Because neither linear epidermal nevi nor Becker nevus originate from pigmentary cells, the name phacomatosis pigmentovascularis is unsuitable. In other words, type I does not exist.

Type IV was defined as an admixture of types II and III.1 Apparently, such overlapping phenotypes are extremely rare. It seems unnecessary to create a particular term for such cases that show a protean variability. For practical purposes it is preferable to categorize them within a group of unclassifiable PPV and to describe the particular association of anomalies as observed in a given case (Table).

WHY NO DISTINCTION BETWEEN SUBTYPES “a” AND “b”?

A categorical separation between cases showing exclusively cutaneous changes and those characterized by additional extracutaneous anomalies1 seems inappropriate. First, in other genetic disorders such as incontinentia pigmenti, cutis marmorata telangiectatica congenita or neurofibromatosis 1, we do not make this distinction either. Second, we can never be sure that a supposed type “a” will later not turn out to represent type “b.” Third, the additional letter “b” does not contain any information regarding the question of which particular extracutaneous anomalies are present. Therefore, it seems preferable to give an exact description, if necessary, of the associated extracutaneous defects.

CASES OF UNCLASSIFIABLE PPV

Some cases of PPV cannot yet be ascribed to any well-defined clinicogenetic entity. Several authors reported telangiectatic nevi associated with café au lait macules1,24 or nevus depigmentosus.24,25 Chen and Happle26 reported a case of “phacomatosis multiplex,” comprising 5 cutaneous components in the form of telangiectatic nevi, blue spots, café au lait macules, nevus depigmentosus, and nevus sebaceus. Bielsa and colleagues27 described speckled lentiginous nevus associated with nevus anemicus in a patient with bilateral primary lymphedema. From this group of unclassifiable cases, additional well-defined types of PPV may emerge in the future.

Correspondence: Rudolf Happle, MD, Department of Dermatology, University of Marburg, Deutschhausstrasse 9, 35033 Marburg, Germany (happle@med.uni-marburg.de).

Accepted for Publication: June 11, 2004.

Financial Disclosure: None.

Hasegawa  YYasuhara  M Phakomatosis pigmentovascularis type IVa Arch Dermatol 1985;121651- 655
PubMed Link to Article
Happle  RSteijlen  PM Phacomatosis pigmentovascularis gedeutet als ein Phänomen der Zwillingsflecken Hautarzt 1989;40721- 724
PubMed
Happle  R Loss of heterozygosity in human skin J Am Acad Dermatol 1999;41143- 161
PubMed Link to Article
Enjolras  OMulliken  JB Vascular malformations Harper  JedOranje  AedProse  NedTextbook of Pediatric Dermatology Oxford, England Blackwell2000;975- 996
Torrelo  AZambrano  AHapple  R Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis Br J Dermatol 2003;148342- 345
PubMed Link to Article
Happle  R Neurocutaneous diseases Freedberg  IMedEisen  AZedWolff  KedAusten  KFedGoldsmith  LAedKatz  SIedFitzpatrick’s Dermatology in General Medicine 6th ed. New York, NY McGraw-Hill2003;1806- 1821
Vidaurri-de la Cruz  HTamayo-Sanchez  LDuran-McKinster  COrozco-Covarrubias  MLRuiz-Maldonado  R Phacomatosis pigmentovascularis IIA and IIB: clinical findings in 24 patients J Dermatol 2003;30381- 388
PubMed
Di Landro  ATadini  GLMarchesi  LCainelli  T Phakomatosis pigmentovascularis: a new case with renal angiomas and some considerations about the classification Pediatr Dermatol 1999;1625- 30
PubMed Link to Article
Mandt  NBlume-Peytavi  UPfrommer  CKrengel  SGoerdt  S Phakomatosis pigmentovascularis type IIa J Am Acad Dermatol 1999;40318- 321
PubMed Link to Article
Ruiz-Maldonado  RTamayo  LLaterza  AMBrawn  GLopez  A Phacomatosis pigmentovascularis: a new syndrome? report of four cases Pediatr Dermatol 1987;4189- 196
PubMed Link to Article
Bhat  JBatta  KShah  PBissenden  JMoss  C Phakomatosis pigmentovascularis type 2β: a case report [abstract] Br J Dermatol 2002;147(suppl 62)92
Furukawa  TIgata  AToyokura  YIkeda  S Sturge-Weber and Klippel-Trenaunay syndrome with nevus of Ota and Ito Arch Dermatol 1970;102640- 645
PubMed Link to Article
Larralde  MLBarquin  MACasas  JGSidelsky  S Phacomatosis pigmentovascularis with a selective IgA deficiency Pediatr Dermatol 1995;12159- 163
PubMed Link to Article
Chekroun-Le  Du LDelaporte  ECatteau  BDestée  APiette  F Phacomatosis pigmentovascularis type II Eur J Dermatol 1998;8569- 572
PubMed
Van Gysel  DOranje  APStroink  HSimonsz  HJ Phacomatosis pigmentovascularis Pediatr Dermatol 1996;1333- 35
PubMed Link to Article
Guiglia  MCPrendiville  JS Multiple granular cell tumors associated with giant speckled lentiginous nevus and nevus flammeus in a child J Am Acad Dermatol 1991;24359- 363
PubMed Link to Article
Libow  LF Phakomatosis pigmentovascularis type IIIb J Am Acad Dermatol 1993;29305- 307
PubMed Link to Article
Mahroughan  MMehregan  AHMehregan  DA Phakomatosis pigmentovascularis: report of a case Pediatr Dermatol 1996;1336- 38
PubMed Link to Article
Eichenfield  LFGibbs  NFEichenfield  LFedFrieden  IJedEsterly  NBed Hyperpigmentation disorders Textbook of Neonatal Dermatology Philadelphia, Pa WB Saunders2001;370- 394
Fishman  SJMulliken  JB Vascular anomalies: a primer for pediatricians Pediatr Clin North Am 1998;451455- 1477
PubMed Link to Article
Tsuruta  DFukai  KSeto  M  et al.  Phakomatosis pigmentovascularis type IIIb associated with Moyamoya disease Pediatr Dermatol 1999;1635- 38
PubMed Link to Article
Sigg  CPelloni  F Oligosymptomatic form of Klippel-Trenaunay-Weber syndrome associated with giant nevus spilus Arch Dermatol 1989;1251284- 1285
PubMed Link to Article
Joshi  AGarg  VKAgrawal  SAgarwalla  AThakur  A Port-wine-stain (nevus flammeus), congenital Becker’s nevus, café-au-lait-macule and lentigines: phakomatosis pigmentovascularis type Ia—a new combination J Dermatol 1999;26834- 836
PubMed
De las Heras  EBoixeda  JPLedo  AHapple  R Paired melanotic and achromic macules in a case of phacomatosis pigmentovascularis: a further example of twin spotting? Am J Med Genet 1997;70336- 337
PubMed Link to Article
Dippel  EUtikal  JFeller  G  et al.  Nevi flammei affecting two contralateral quadrants and nevus depigmentosus: a new type of phacomatosis pigmentovascularis? Am J Med Genet 2003;119A228- 230
PubMed Link to Article
Chen  WHapple  R Phacomatosis pigmentovasculosebacea: an unusual case of phacomatosis multiplex Eur J Dermatol 2003;13231- 233
PubMed
Bielsa  IParadelo  CRibera  MFerrándiz  C Generalized nevus spilus and nevus anemicus in a patient with a primary lymphedema: a new type of phakomatosis pigmentovascularis? Pediatr Dermatol 1998;15293- 295
PubMed Link to Article

Figures

Place holder to copy figure label and caption
Figure 1.

Phacomatosis cesioflammea: blue spots coexisting with port-wine stains (courtesy of Ramón Ruiz-Maldonado, MD National Institute of Pediatrics, Mexico City, Mexico).

Graphic Jump Location
Place holder to copy figure label and caption
Figure 2.

Phacomatosis spilorosea: nevus spilus (speckled lentiginous nevus) associated with a pale-pink telangiectatic nevus (reprinted with permission from Hautarzt.2 Copyright 1989, Springer-Verlag GmbH & Co KG).

Graphic Jump Location
Place holder to copy figure label and caption
Figure 3.

Phacomatosis cesiomarmorata. A, Frontal aspect, showing multiple blue spots and flaglike areas of reticulated, marblelike erythema. B, Dorsal view, showing bluish macules intermingled with areas of cutis marmorata (reprinted with permission from Br J Dermatol.5 Copyright 2003).

Graphic Jump Location

Tables

Table Graphic Jump LocationTable. Proposed New Classification of Phacomatosis Pigmentovascularis

References

Hasegawa  YYasuhara  M Phakomatosis pigmentovascularis type IVa Arch Dermatol 1985;121651- 655
PubMed Link to Article
Happle  RSteijlen  PM Phacomatosis pigmentovascularis gedeutet als ein Phänomen der Zwillingsflecken Hautarzt 1989;40721- 724
PubMed
Happle  R Loss of heterozygosity in human skin J Am Acad Dermatol 1999;41143- 161
PubMed Link to Article
Enjolras  OMulliken  JB Vascular malformations Harper  JedOranje  AedProse  NedTextbook of Pediatric Dermatology Oxford, England Blackwell2000;975- 996
Torrelo  AZambrano  AHapple  R Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis Br J Dermatol 2003;148342- 345
PubMed Link to Article
Happle  R Neurocutaneous diseases Freedberg  IMedEisen  AZedWolff  KedAusten  KFedGoldsmith  LAedKatz  SIedFitzpatrick’s Dermatology in General Medicine 6th ed. New York, NY McGraw-Hill2003;1806- 1821
Vidaurri-de la Cruz  HTamayo-Sanchez  LDuran-McKinster  COrozco-Covarrubias  MLRuiz-Maldonado  R Phacomatosis pigmentovascularis IIA and IIB: clinical findings in 24 patients J Dermatol 2003;30381- 388
PubMed
Di Landro  ATadini  GLMarchesi  LCainelli  T Phakomatosis pigmentovascularis: a new case with renal angiomas and some considerations about the classification Pediatr Dermatol 1999;1625- 30
PubMed Link to Article
Mandt  NBlume-Peytavi  UPfrommer  CKrengel  SGoerdt  S Phakomatosis pigmentovascularis type IIa J Am Acad Dermatol 1999;40318- 321
PubMed Link to Article
Ruiz-Maldonado  RTamayo  LLaterza  AMBrawn  GLopez  A Phacomatosis pigmentovascularis: a new syndrome? report of four cases Pediatr Dermatol 1987;4189- 196
PubMed Link to Article
Bhat  JBatta  KShah  PBissenden  JMoss  C Phakomatosis pigmentovascularis type 2β: a case report [abstract] Br J Dermatol 2002;147(suppl 62)92
Furukawa  TIgata  AToyokura  YIkeda  S Sturge-Weber and Klippel-Trenaunay syndrome with nevus of Ota and Ito Arch Dermatol 1970;102640- 645
PubMed Link to Article
Larralde  MLBarquin  MACasas  JGSidelsky  S Phacomatosis pigmentovascularis with a selective IgA deficiency Pediatr Dermatol 1995;12159- 163
PubMed Link to Article
Chekroun-Le  Du LDelaporte  ECatteau  BDestée  APiette  F Phacomatosis pigmentovascularis type II Eur J Dermatol 1998;8569- 572
PubMed
Van Gysel  DOranje  APStroink  HSimonsz  HJ Phacomatosis pigmentovascularis Pediatr Dermatol 1996;1333- 35
PubMed Link to Article
Guiglia  MCPrendiville  JS Multiple granular cell tumors associated with giant speckled lentiginous nevus and nevus flammeus in a child J Am Acad Dermatol 1991;24359- 363
PubMed Link to Article
Libow  LF Phakomatosis pigmentovascularis type IIIb J Am Acad Dermatol 1993;29305- 307
PubMed Link to Article
Mahroughan  MMehregan  AHMehregan  DA Phakomatosis pigmentovascularis: report of a case Pediatr Dermatol 1996;1336- 38
PubMed Link to Article
Eichenfield  LFGibbs  NFEichenfield  LFedFrieden  IJedEsterly  NBed Hyperpigmentation disorders Textbook of Neonatal Dermatology Philadelphia, Pa WB Saunders2001;370- 394
Fishman  SJMulliken  JB Vascular anomalies: a primer for pediatricians Pediatr Clin North Am 1998;451455- 1477
PubMed Link to Article
Tsuruta  DFukai  KSeto  M  et al.  Phakomatosis pigmentovascularis type IIIb associated with Moyamoya disease Pediatr Dermatol 1999;1635- 38
PubMed Link to Article
Sigg  CPelloni  F Oligosymptomatic form of Klippel-Trenaunay-Weber syndrome associated with giant nevus spilus Arch Dermatol 1989;1251284- 1285
PubMed Link to Article
Joshi  AGarg  VKAgrawal  SAgarwalla  AThakur  A Port-wine-stain (nevus flammeus), congenital Becker’s nevus, café-au-lait-macule and lentigines: phakomatosis pigmentovascularis type Ia—a new combination J Dermatol 1999;26834- 836
PubMed
De las Heras  EBoixeda  JPLedo  AHapple  R Paired melanotic and achromic macules in a case of phacomatosis pigmentovascularis: a further example of twin spotting? Am J Med Genet 1997;70336- 337
PubMed Link to Article
Dippel  EUtikal  JFeller  G  et al.  Nevi flammei affecting two contralateral quadrants and nevus depigmentosus: a new type of phacomatosis pigmentovascularis? Am J Med Genet 2003;119A228- 230
PubMed Link to Article
Chen  WHapple  R Phacomatosis pigmentovasculosebacea: an unusual case of phacomatosis multiplex Eur J Dermatol 2003;13231- 233
PubMed
Bielsa  IParadelo  CRibera  MFerrándiz  C Generalized nevus spilus and nevus anemicus in a patient with a primary lymphedema: a new type of phakomatosis pigmentovascularis? Pediatr Dermatol 1998;15293- 295
PubMed Link to Article

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