An otherwise healthy, 4-week-old newborn girl delivered vaginally at 38 weeks presents with a birthmark. Physical examination demonstrates near confluent blue/gray patches across the buttocks, left leg, and chest. The face and genitalia are spared. Several vascular patches are noted across the patient’s back and right thigh. The infant has no significant family history of skin disease and the patient is in the 50th percentile in length and head circumference. She has no known allergies. The patient is alert and cooperative on physical examination without neurologic deficits. The infant has coexisting cutaneous vascular malformations and dermal melanocytosis (Figure).


The patient is diagnosed with phakomatosis pigmentovascularis (PPV), which is a rare congenital disease that is characterized by coexisting cutaneous vascular malformations and dermal melanocytosis. The condition is primarily diagnosed clinically based upon physical examination findings with classification ranging from types I to types V.1

Types I through IV present with extensive nevus flammeus and vary based upon the associated pigmented lesion.1 Examples of defining pigmentary nevi include ectopic dermal melanocytosis, nevus of Ota, epidermal nevus, nevus spilus, and cafe au lait spots.2 Type V is unique in that the cutaneous vascular malformation is defined as cutis marmorata telangiectatica congenita with the pigmented dermal melanocytosis.

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Classification is further divided into whether the condition is isolated to cutaneous defects or whether there are associated extracutaneous impairments such as seizures, glaucoma, soft tissue overgrowth, and mental retardation.2 The most commonly reported type to date is IIb nevus flammeus and dermal melanocytosis with systemic involvement especially in sporadic cases from Japan, Mexico, and Argentina.3 In 2005, Happle proposed a simpler classification that excluded the numbering and lettering and rather grouped PPV into phacomatosis cesioflammea (dermal melanocytosis and nevus flammeus), phacomatosis spilorosea (nevus spilus with a pale-pink telagiectatic nevus), and phacomatosis cesiomarmorata (dermal melanocytosis and cutis marmorata telangiectatica congenita), and a group of unclassifiable forms.1 This classification removed the delineation between cutaneous and extracutaneous defects as 50% of cases present with systemic involvement.3

Differential Diagnosis of Phakomatosis Pigmentovascularis

The differential diagnosis of PPV should include other congenital syndromes that present with vascular malformations and other systemic involvement such as Sturge-Weber syndrome, Parkes-Weber syndrome, and Klippel-Trenaunay syndrome.1 These syndromes may often coexist in the diagnosis of PPV and must be ruled out before moving forward with management.

Sturge-Weber syndrome is characterized by a recognizable port-wine stain in the ophthalmic or maxillary segment distribution of the trigeminal nerve along with a diagnosis of seizures and ocular involvement.4 Parkes-Weber syndrome is a rare congenital cause of capillary vascular malformations and associated with high-flow arteriovenous fistulas that may lead to high-output heart failure in the neonate.5 Klippel-Trenaunay syndrome is recognized with extensive soft-tissue growth, often manifested as one limb longer than another, and vascular malformations.6 All of these congenital syndromes are characterized specifically by vascular malformations along with other systemic involvement, but not by coexisting melanocytic nevi as seen in PPV.3

The etiology of PPV is unclear but may be related to postzygotic mutation in the GNA11 or GNAQ gene.7

Treatment of Phakomatosis Pigmentovascularis

PPV without systemic involvement is benign and requires no treatment. Shin et al demonstrated efficacy with Q-switched lasers for treatment of pigmented nevi and pulsed dye laser for treatment of capillary malformations.2

The clinician’s ability in recognizing PPV is significant in that associated neurologic anomalies may develop in the first months of life and can significantly affect the patient’s quality of life. Regularly scheduled pediatric examinations and an initial ophthalmology referral are recommended to monitor for any neurologic sequelae that may present during the first year. Intensive examinations and tests to exclude choroidal angioma, choroidal melanoma, and leptomeningeal angiomas are necessary in ophthalmic clinics to develop ocular treatments plans and potential therapy.8

A multimodal approach to diagnosis and treatment and a high level of clinical suspicion based on physical examination and presentation are vital in diagnosing this rare congenital disease.

Shira Lanyi, BS, is a medical student at Virginia Commonwealth University in Richmond, Virginia, class of 2022; Kimberly Salkey, MD, is associate professor and residency program director in the Department of Dermatology at Virginia Commonwealth University.


1. Dutta A, Ghosh SK, Bandyopadhyay D, Bhanja DB, Biswas SK. Phakomatosis pigmentovascularis: a clinical profile of 11 Indian patients. Indian J Dermatol. 2019;64(3):217-223. doi:10.4103/ijd.IJD_385_18

2. Shin H, Kim YG, Kim YE, Park H. Clinical characteristics and treatment of 52 cases of phakomatosis pigmentovascularis. J Dermatol. 2019;46(10):843-848. doi:10.1111/1346-8138.15035

3. Fernández-Guarino M, Boixeda P, de Las Heras E, Aboin S, García-Millán C, Olasolo PJ. Phakomatosis pigmentovascularis: clinical findings in 15 patients and review of the literature. J Am Acad Dermatol. 2008;58(1):88-93. doi:10.1016/j.jaad.2007.08.012

4. Singh AK, Keenaghan M. Sturge-Weber Syndrome. In: StatPearls. StatPearls Publishing; 2021 Jan. Updated May 7, 2021. Accessed September 23, 2021.

5. Stefanov-Kiuri S, Fernandez-Heredero A. Images in clinical medicine. Parkes Weber syndrome. N Engl J Med. 2014;371(22):2114. doi:10.1056/NEJMicm1312948

6. Naganathan S, Tadi P. Klippel Trenaunay Weber Syndrome. In: StatPearls. StatPearls Publishing; 2021 Jan. Updated July 26, 2021. Accessed September 23, 2021.

7. Thomas AC, Zeng Z, Rivière JB, et al. Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis. J Invest Dermatol. 2016;136(4):770-778. doi:10.1016/j.jid.2015.11.027

8. Yang Y, Guo X, Xu J, Ye Y, Liu X, Yu M. Phakomatosis pigmentovascularis associated with Sturge-Weber syndrome, ota nevus, and congenital glaucoma. Medicine (Baltimore). 2015;94(26):e1025. doi:10.1097/MD.0000000000001025