Vascular malformations caused by GNAQ/GNA11 somatic mutations are related to capillary malformations (CM), which include port-wine stains (PWS), and also include capillary malformation-related syndromes, such as Sturge-Weber syndrome (SWS), capillary malformation with overgrowth (CMO), diffuse capillary malformation with overgrowth (DCMO), and phakomatosis pigmentovascularis (PPV). These disorders are known as the GNA-Related Capillary malformation spectrum (GNARCMs). This spectrum presents a therapeutic challenge. This study aimed to evaluate the efficacy and safety of photodynamic therapy (PDT) for treating the GNARCMs of pediatric patients. The clinical manifestations of the pediatric GNARCMs patients were retrospectively analyzed, and the treatment data were assessed after undergoing PDT mediated with a combination of Hemoporfin and 532-nm light. For evaluation of improvement, photographs taken before and after photodynamic therapy were evaluated by three independent assessors blindly. Patient satisfaction was also used as a factor in the efficacy evaluation. Adverse events were recorded after treatment. We identified 25 pediatric patients in the study, including 11 patients of SWS, 8 patients of PPV, 5 patients of CMO, and 1 patient of DCMO. After an average of 1.64 sessions of PDT, based on the overall visual assessment, 72% of patients responded to treatment (with >25% color blanching), 48% of patients showed excellent or good levels of improvement (with >50% color blanching). Most adverse events were transient and self-limiting, except one patient of SWS, on the third day after PDT, the visual acuity of the eye on the non-treated side suddenly decreased, and the patient was diagnosed with retinal detachment, which was considered to be related to primary glaucoma rather than PDT. Focusing on the various clinical manifestations of the GNARCMs, after except contraindications, PDT can be selected for treatment of pediatric patients, and its effectiveness and safety are worthy of affirmation.

This report highlights the value of multidisciplinary collaboration, personalized care, dynamic monitoring of seizure activity, and innovative skin management in a 2-month-old with Phakomatosis Pigmentovascularis. In parallel, the nursing team implemented a multidimensional "medical-social-psychological" support model, providing psychological guidance and economic assistance to the family to help the infant achieve a favorable outcome.

A woman in her late 40s presented to the emergency department with a sudden onset of left hemiparesis and left hemihypesthesia. Neurological examination revealed decreased muscle strength and decreased pinprick sensation over her left-sided body. CT and MRI of the brain demonstrated evidence of acute infarction involving the right centrum semiovale and the superior part of the right corona radiata. CT angiography of the brain and neck revealed no atherosclerotic changes or significant stenosis in the large intracranial and extracranial arteries. The National Institutes of Health Stroke Scale was 3. She was diagnosed with acute ischaemic stroke and admitted to the stroke unit. Dual antiplatelets were initially prescribed according to the CHANCE study. Concurrently, she exhibited characteristic cutaneous manifestations of dermal melanosis over both cheeks and forehead with port-wine stain over her face and upper trunk, prompting suspicion of phakomatosis pigmentovascularis type IIb. After the completion of standard ischaemic stroke treatment, she has recovered and is currently under the outpatient follow-up.

Phakomatosis pigmentovascularis, a multisystem disorder, exhibited male predominance, with Phakomatosis cesioflammea as the most prevalent type. Glaucoma affected 88% of eyes, with three-quarters requiring surgery. Systemic issues, notably epilepsy and anemia, were prevalent in over half of all subjects. To report the clinical profile and demographic characteristics of a large cohort with Phakomatosis pigmentovascularis (PPV). Included 119 eyes of 60 patients with PPV between January 1996 and January 2023 (27 y). This is a retrospective multicentric study involving 4 tertiary network institutes in India. The diagnosis of PPV was established based on the concurrent presence of pigmentary nevi and capillary malformation, with classification conducted according to the Happle classification system. Demographic information, clinical features at the time of diagnosis (both ocular and systemic), the prevalence of glaucoma, details of management strategies used, and the subsequent outcomes were meticulously documented. Key outcome measures included the prevalence of glaucoma among patients, the frequency of systemic abnormalities noted, and the various surgical interventions performed along with their respective success rates. The cohort had male preponderance (male: female ratio of 67%:33%), with median age of presentation at 0.48 (range=0.12, 7.77) years. Glaucoma was observed in 105 eyes (88.2%), with bilateral involvement present in 75% of cases. The most prevalent phenotype observed within the cohort was Phakomatosis cesioflammea (Type iib), affecting 65% of patients. Systemic abnormalities were noted in 51.6% of cases, with epilepsy (45%) and anemia (36%) being the most frequently documented conditions. Surgical intervention was required for 64.7% of eyes for intraocular pressure control, with combined trabeculotomy and trabeculectomy being the predominant procedure used. Surgical success was noted in 87% of eyes, and 19.4% eyes had complications. Phakomatosis cesioflammea (Type iib) was the most common subgroup noted. The majority of patients had glaucoma, often bilateral, with two-thirds requiring surgical intervention for IOP control. Systemic abnormalities were common, emphasizing the need for comprehensive multisystem evaluation in these patients.

Phakomatosis pigmentovascularis (PPV) is a rare congenital cutaneous syndrome characterized by capillary malformation and extensive dermal melanosis. The complexity of PPV is reflected in its evolving classification systems. Systemic manifestations encompass ocular, neurological, vascular, musculoskeletal, and renal involvement. The pathogenesis, linked to abnormalities in neural cell development and migration, contributes to the varied clinical features of PPV. We describe a rare case of a 21-month-old Saudi girl who presented to our clinic with features of PPV type 2a. A 21-month-old Saudi girl presented to the clinic with erythematous to violaceous patches and diffuse greyish patches over her back and buttocks since birth. Examination revealed port-wine stains, extensive Mongolian spots, and a slight lower limb length discrepancy. The mother reported a single febrile seizure episode previously. The patient underwent an ophthalmological examination where the overall impression was unremarkable. She was referred to Pediatric Neurology for further investigation. PPV manifests through the simultaneous presence of vascular and melanocytic components. The classification of PPV has evolved over time, incorporating additional types and simplified groupings. Our case aligns with PPV type 2a and underscores the necessity for investigations considering potential systemic complications. Despite the generally benign course of PPV, tailored interventions, such as laser therapy, prove valuable for cosmetic improvement. The importance of regular follow-ups and collaboration among medical specialties, especially in Neurology, Ophthalmology, and Vascular surgery, is necessary for comprehensive care of individuals with PPV.