Phakomatosis pigmentovascularis type 2a: a rare case report

Introduction

Phakomatosis pigmentovascularis (PPV) is a rare congenital cutaneous syndrome (1). It manifests through capillary malformation and extensive dermal melanosis, which are classified into five major types. Each type is further subdivided based on the presence (type a) or absence (type b) of associated extra-cutaneous signs (1). We describe a rare case of a 21-month-old Saudi girl who presented to our clinic with features of PPV type 2a. We present this article in accordance with the CARE reporting checklist (available at https://acr.amegroups.com/article/view/10.21037/acr-24-12/rc).

Case presentation

A 21-month-old female was brought to our clinic with erythematous to violaceous patches over her limbs and diffuse greyish patches over her back and buttocks present since birth. On examination, she was found to have extensive port-wine stains over all four limbs, which appeared mildly reticulated (Figure 1A,1B). In addition, the patient had extensive Mongolian spots covering a large portion of her back, buttocks, upper thighs, and abdomen (Figure 1C,1D). A milium over the right nipple was also apparent (Figure 1E). Based on these clinical findings, a diagnosis of PPV was made.

Figure 1 Phakomatosis pigmentovascularis. (A) Port-wine stain over all four limbs. (B) Port-wine stain of the hands appearing as mildly reticulated. (C) Mongolian spot over the buttocks and lower back. (D) Mongolian spots over the upper thighs and lower abdomen. (E) Right nipple milium.

Neuropsychomotor development was normal, and there were no signs of soft tissue atrophy. However, there was a slight length discrepancy between the patient’s lower limbs, with the left leg measuring longer than the right leg, which manifested by an abnormal gait. The mother also reported a single febrile seizure episode previously. The patient underwent an ophthalmological examination where the overall impression was unremarkable except for a mild refractive error. Anterior segment and fundi assessment was within normal limits with no vascular abnormalities. She was referred to the Pediatric Neurology department and scheduled for a brain magnetic resonance imaging (MRI) for further investigation. A skin biopsy was offered for genetic testing but was refused by the family.

All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s legal guardian for the publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Discussion

PPV is characterized by the simultaneous presence of vascular and melanocytic components (1). Over time, the classification of PPV has evolved from its initial categorization into four major types by Hasegawa and Yasuhara to include a fifth type, primarily featuring cutis marmorata telangiectatica congenita, together with dermal melanocytosis (2,3). In 2005, Happle introduced a simplified classification comprising three principal groups: phakomatosis cesioflammea, marked by the presence of both Mongolian spots and a port-wine stain; phakomatosis spilorosea, defined by nevus spilus, together with a salmon patch or port-wine stain; and phakomatosis cesiomarmorata, characterized by the presence of Mongolian spots and congenital telangiectatic marble cutis (4) (Table 1). Cases that do not align with these classifications are considered unclassifiable PPV (4).

Numerous systemic manifestations have been documented in PPV, encompassing ocular, neurological, vascular, musculoskeletal, and renal involvement (6). Among the associated systemic conditions, Klippel-Trenaunay syndrome is a common complication of PPV in patients with systemic involvement. Klippel-Trenaunay syndrome is characterized by the presence of capillary malformations (often unilateral), varicose veins, and soft tissue and/or bony hypertrophy (6). The pathogenesis of PPV is not fully understood. However, it has been linked to an abnormality in the development and migration of vasomotor neural cells and melanocytic nevus cells derived from the neural crest (5). Abnormalities in the migration of melanocytes derived from the neural crest are thought to result in Mongolian spots, nevus of ota, or nevus spilus, whereas abnormalities in the neural regulation of blood vessels are thought to be the cause of vascular manifestations of PPV (7).

According to the classification criteria for PPV, our case presented with manifestations consistent with PPV type 2a, which is characterized by the presence of a port-wine stain and extensive Mongolian spots. All patients with PPV are recommended to undergo investigations for systemic complications, taking into consideration the sites involved (1). It is estimated that 50% of patients with PPV present with extra-cutaneous involvement (8). The most common systemic complications associated with PPV include central nervous system, ophthalmologic, and skeletal abnormalities (1). Neurological abnormalities are reported to be present in the first few months of life and include seizures, psychomotor retardation, and cerebral atrophy (1). The most common ophthalmologic anomalies include ocular melanosis, conjunctival melanocytosis, episcleral vascular malformation, and glaucoma (1,8). Patients with PPV with systemic involvement require frequent follow-ups and multidisciplinary team management, including neurology, ophthalmology, and vascular surgery (1).

PPV without systemic involvement usually has a benign course and requires no specific treatment (1). However, the vascular and pigmentary lesions can cause emotional distress to patients and affect their self-esteem. In such cases, laser therapy can be offered to improve the appearance of the lesions cosmetically, which, in turn, can improve the quality of patients’ lives. Pigmentary nevus can be treated with Q-switched lasers, and port-wine stains can be treated with pulsed dye lasers (9). To improve patient outcomes and quality of life and increase cost effectiveness, combined laser treatments are undertaken in young patients with pigmentary nevus, preferably before school age (10).

Conclusions

PPV presents as a rare congenital cutaneous syndrome marked by vascular and melanocytic components. The evolving classification systems reflect the diagnostic challenges inherent in understanding this complex condition. Vigilance for potential systemic complications, including neurological, ocular, and renal involvement, necessitates a multidisciplinary approach for comprehensive patient care. Tailored interventions, such as laser therapy, prove valuable in addressing cosmetic concerns and improving the quality of life for affected individuals. Moreover, the patient’s mother had expressed her desire for an increased awareness surrounding PPV which may have led to an earlier diagnosis of her child’s condition and improved patient outcomes.

Acknowledgments

Funding: None.

Footnote

Reporting Checklist: The authors have completed the CARE reporting checklist. Available at https://acr.amegroups.com/article/view/10.21037/acr-24-12/rc

Peer Review File: Available at https://acr.amegroups.com/article/view/10.21037/acr-24-12/prf

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://acr.amegroups.com/article/view/10.21037/acr-24-12/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient’s legal guardian for the publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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