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Phacomatosis Pigmentovascularis Revisited and Reclassified

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Phacomatosis Pigmentovascularis Revisited and Reclassified REVIEW Phacomatosis Pigmentovascularis Revisited and Reclassified Rudolf Happle, MD Objective: To provide a new comprehensible and prac- morata (blue spots and cutis marmorata telangiectatica ticable classification by use of descriptive terms to dis- congenita). Phacomatosis cesioflammea is identical with tinguish the various types of phacomatosis pigmento- the traditional types IIa and IIb; phacomatosis spilo- vascularis (PPV), which has previously been classified rosea corresponds to types IIIa and IIIb; and phacoma- by numbers and letters that are difficult to memorize. tosis cesiomarmorata is a descriptive term for type V. A categorical distinction of cases with and without extra- Study Selection: Published case reports on PPV were cutaneous anomalies seems inappropriate. The tradi- reassessed. tional type I does not exist, and the extremely rare traditional type IV is now included in the group of un- Data Extraction and Data Synthesis: A critical re- classifiable forms. view revealed that only 3 well-established types of PPV so far exist. To eliminate the cumbersome traditional clas- Conclusion: The proposed new classification of PPV by sification by numbering and lettering, the following new using 3 descriptive terms may be easier to memorize com- terms are proposed: phacomatosis cesioflammea (blue spots pared with the time-honored grouping of in part not even [caesius=bluish gray] and nevus flammeus); phacoma- existing subtypes by numbers and letters. tosis spilorosea (nevus spilus coexisting with a pale- pink telangiectatic nevus), and phacomatosis cesiomar- Arch Dermatol. 2005;141:385-388 HACOMATOSIS PIGMENTOVAS- used to characterize some neurocutane- cularis (PPV) is defined as an ous syndromes but is today mainly association of a widespread applied to genetically determined dis- vascular nevus with an ex- eases characterized by the presence of 2 tensive pigmentary nevus.1 or more different nevi, such as “phaco- All types so far described can be best matosis pigmentovascularis” or “phaco- P 6 explained as examples of twin spot- matosis pigmentokeratotica.” The spell- ting.2,3 The prevailing classification of ing “phacomatosis” is preferable to the various forms of PPV1 is cumber- “phakomatosis” when the term is fol- some. How can the busy practitioner lowed by a Latin adjective. memorize the differences between type IIb and type IIIa? A recently recognized PHACOMATOSIS CESIOFLAMMEA type V4,5 still adds to the confusion because there is no mnemonic value in This type is characterized by a coexist- the bare numbering and lettering of ence of 1 or more aberrant blue spots subtypes. (Mongolian spots, dermal melanocyto- I propose a simplified classification sis) and 1 or more port-wine stains by using descriptive terms. Accordingly, (Figure 1). The Latin word caesius means there are only 3 distinct types of PPV, apart bluish gray and serves as an equivalent of from a group of unclassifiable forms. The the term fuscocoeroleus to describe an ab- 3 well-established forms are called phaco- errant Mongolian spot. Phacomatosis ce- Author Affiliations: matosis cesioflammea, phacomatosis spilo- sioflammea is the most frequently occur- Department of Dermatology, rosea, and phacomatosis cesiomarmorata ring type. For example, Vidaurri-de la 7 Philipp University of Marburg, (Table). Cruz and colleagues did not find any Marburg, Germany. The Greek word phakos means nevus. other type in a series of 24 consecutive Financial Disclosure: None. The term phacomatosis was originally cases of PPV. (REPRINTED) ARCH DERMATOL/ VOL 141, MAR 2005 WWW.ARCHDERMATOL.COM 385 ©2005 American Medical Association. All rights reserved. Table. Proposed New Classification of Phacomatosis Pigmentovascularis Proposed New Name Type of Coexistent Nevi Traditional Name Reported Additional Skin Lesions Phacomatosis Nevus cesius (blue spot) and nevus flammeus PPV type IIa/b Nevus anemicus, areas of hairlessness, cesioflammea hypoplastic nails Phacomatosis Nevus spilus (speckled lentiginous nevus) of the PPV type IIIa/b Areas of hairlessness, granular cell spilorosea macular type and telangiectatic nevus of a tumors, lymphedema pale-pink type Phacomatosis Nevus cesius (blue spot) and cutis marmorata PPV type Va/b None cesiomarmorata telangiectatica congenita Phacomatosis Various types of vascular and pigmentary nevi, PPV type IVa/b and no Café au lait macules, hypomelanotic pigmentovascularis, sometimes with overlapping phacomatosis name macules, nevus anemicus, nevus unclassifiable type cesioflammea and phacomatosis sebaceus spilovascularis Abbreviation: PPV, phacomatosis pigmentovascularis. 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). 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 Hence, the present classification implies that 2 differ- ent 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 but Figure 1. Phacomatosis cesioflammea: blue spots coexisting with port-wine stains (courtesy of Ramón Ruiz-Maldonado, MD National Institute of have confusingly and interchangeably used the term ne- 16-19 Pediatrics, Mexico City, Mexico). vus flammeus in all patients. 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 The vascular nevus is usually purple-red and repre- spilorosea. The term capillary malformation20 is likewise sents a nevus flammeus in the strict sense of the word. unsuitable because it does not differentiate between ne- It should be noted, however, that during the first vus flammeus and other types of vascular nevi. weeks of life, this port-wine stain may still show a The term spilus is a short Latin word to describe speck- pale-pink color.8 led lentiginous nevus. The name phacomatosis spilo- The 2 skin lesions may occur without other anoma- rosea is proposed because roseus means light red or pink. lies,9 or they may be associated with central nervous sys- The disorder may occur without other anomalies,18 or it tem defects,10 ocular anomalies such as melanosis bulbi may be associated with unilateral lymphedema,2 hemi- or glaucoma,7 asymmetrical length of limbs,11,12 dysplas- paresis,21 seizures,21 or asymmetrical length of legs re- tic veins or lymph vessels,7,13 or nevus anemicus.14,15 sulting in scoliosis.17,22 Remarkably, however, neither ne- (REPRINTED) ARCH DERMATOL/ VOL 141, MAR 2005 WWW.ARCHDERMATOL.COM 386 ©2005 American Medical Association. All rights reserved. A B 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). vus flammeus nor nevus anemicus appear to be associated tion.19 The designation “type I” has even been used to with this type of PPV. describe an unusual co-occurrence of nevus flammeus and Becker nevus.23 Because neither linear epidermal nevi PHACOMATOSIS CESIOMARMORATA nor Becker nevus originate from pigmentary cells, the name phacomatosis pigmentovascularis is unsuitable. In This type of PPV is characterized by a coexistence of ne- other words, type I does not exist. vus caesius (blue spot, aberrant Mongolian spot) and cu- Type IV was defined as an admixture of types II and tis marmorata telangiectatica congenita (Figure 3). The III.1 Apparently, such overlapping phenotypes are ex- name phacomatosis cesiomarmorata contains a brief de- tremely rare. It seems unnecessary to create a particular scription of the 2 skin disorders. Enjolras and Mulliken4 term for such cases that show a protean variability. For described a 3-month-old boy with this new “type V” PPV. practical purposes it is preferable to categorize them within Torrelo and colleagues5 observed 2 additional cases, one a group of unclassifiable PPV and to describe the par- of which was associated with blue sclerae and slightly di- ticular association of anomalies as observed in a given minished corneae. The other case involved hyperplasia case (Table). of a leg, and a computed tomographic scan showed asym- metry of hemispheres and ventricles. Hence, phacoma- WHY NO DISTINCTION tosis cesiomarmorata may likewise be associated with ex- BETWEEN SUBTYPES “a” AND “b”? tracutaneous defects. A categorical separation between cases showing exclu- WHY ONLY 3 WELL-DEFINED TYPES? sively cutaneous changes and those characterized by ad- ditional extracutaneous anomalies1 seems inappropri- The traditional type I has not emerged in practice, and ate. First, in other genetic disorders such as incontinentia the conventional type IV also seems virtually absent. The pigmenti, cutis marmorata telangiectatica congenita or historic type I was defined as concomitant nevus flam- neurofibromatosis 1, we do not make this distinction meus and nevus pigmentosus et verrucosus,1 a term that either. Second, we can never be sure that a supposed type means a linear
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