The risk of glaucoma associated with phacomatosis cesioflammea and phacomatosis cesioflammeo-marmorata

Background: The ocular features of phacomatosis pigmentovascularis (PPV) have rarely been reported, and glaucoma is the leading cause of blindness in patients with this condition. To protect vision in these patients, it is important to identify glaucoma as early as possible. Objectives: To systematically report the systemic and ocular manifestations of phacomatosis cesioflammea and phacomatosis cesioflammeo-marmorata, and to investigate a glaucoma risk scoring system. Materials & Methods: In this prospective study, patients with PPV from 2014 to 2021 were included. Clinical information was collected, and associations with glaucoma were evaluated. The suitability of the scoring system was assessed. A systematic literature review and analysis of reported cases of PPV was performed. Results: A total of 28 participants with PPV were included. Their ocular findings were similar, ranging from episcleral hyperpigmentation (78.5%), glaucoma (75%), choroid haemangioma (38%), and retinal vascular abnormalities (48%), to hyperpigmentation of the cornea, iris, lens and fundus. Glaucoma was associated with multiple factors, especially a thick choroid (odds ratio: 2.61; p = 0.008) and a diffuse mass-type of episcleral hyperpigmentation (odds ratio: 41.3; p = 0.027). The risk scoring system was characterized by high sensitivity (84%) and specificity (80%; AUC = 0.91) in predicting glaucoma. Conclusion: In addition to involving the systemic system, phacomatosis cesioflammea and phacomatosis cesioflammeo-marmorata also represent a specific spectrum of ophthalmic vascular malformations and hyperpigmentation. Early and periodic detailed ocular examination are recommended. The novel scoring system will help to tailor follow-up for visual protection.

Raynaud's Phenomenon and Limb Hypertrophy Presenting Phacomatosis Pigmentovascularis: A Rare Association.

Phacomatosis pigmentovascularis is a rare dermal disorder attributed to the presence of various nevi. These lesions exist since birth, so the patient remains well aware of them. Various systemic involvements may be associated with the nevus, but the association of Raynaud's phenomenon is seldom reported. Our patient came with similar features and, on workup, no neurovascular compression was present, such as cervical rib or thoracic outlet syndrome. Therefore, he was managed conservatively and experienced improvement following the treatment. The objective of reporting this case is to highlight the association of Raynaud's phenomenon with such nervous lesions.

Outcomes of Management of Glaucoma in Phacomatosis Pigmentovascularis Over the Last Three Decades: A Single-Center Experience.

PURPOSE: To report the clinical outcomes of glaucoma management in patients with phacomatosis pigmentovascularis (PPV) treated over a period of 3 decades. DESIGN: Retrospective cohort study. PARTICIPANTS: Fifty-five eyes of 38 patients (21 unilateral and 17 bilateral) with glaucoma in PPV managed at one institution between January 1990 and December 2019 with a minimum follow-up of 1 year. METHODS: Medical records of children with glaucoma in PPV were reviewed, and demographic and clinical data were collected. Surgical interventions included primary combined trabeculotomy-trabeculectomy (CTT), trabeculectomy with mitomycin C (MMC), and transscleral cyclophotocoagulation (TSCPC). Complete success was defined as intraocular pressure (IOP) ≥ 6 and ≤ 16 mmHg without medications and qualified success as IOP ≤ 16 mmHg with the use of up to 2 medications. MAIN OUTCOME MEASURES: Intraocular pressure, best-corrected visual acuity (BCVA), corneal clarity, antiglaucoma medications at preoperative and postoperative visits (last visit), and complications. RESULTS: Median age was 4 months (range, 0.2-252 months) at the time of glaucoma surgery. Thirty-nine eyes (74%) had primary CTT, 10 eyes (19%) had trabeculectomy with MMC, and 4 eyes (7%) with advanced glaucoma had TSCPC. Two eyes (3.6%) received medical treatment. Preoperative IOP reduced from a mean of 25.7 ± 8.4 mmHg on 0.8 ± 0.6 medications to 14.6 ± 5.2 mmHg on 0.4 ± 0.5 medications (P < 0.0001) at last follow-up after surgery (77.7 ± 56.5 months). Thirty-seven eyes (67.3%) required medications preoperatively, and 22 eyes (40%) required medications at the last follow-up. Of 25 patients with available BCVA at last follow-up, 9 (36%) had ≥ 20/60; of these, 6 had > 20/40. Four of 10 eyes that underwent trabeculectomy with MMC developed retinal detachment and were managed surgically; however, all of these eyes had poor visual outcomes. There was no incidence of bleb leakage, bleb-related infection, or endophthalmitis. CONCLUSIONS: Combined trabeculotomy-trabeculectomy is safe and effective as a primary procedure for management of glaucoma in PPV. Trabeculectomy augmented with MMC as a second procedure was associated with a higher rate of complications.

Phacomatosis pigmentovascularis with sturge-weber syndrome and congenital glaucoma: A rare case report.

Phacomatosis pigmentovascularis (PPV) is a rare congenital disease characterized by the co-existence of cutaneous vascular malformation and pigmentary nevi with or without extracutaneous systemic involvement. Here, we present a 2-month old child diagnosed with phacomatosis cesioflammea type of PPV with Sturge-Weber syndrome and secondary congenital glaucoma of the left eye. She underwent combined trabeculotomy and trabeculectomy in the left eye for glaucoma and was started on anti-epileptics for seizure control following pediatric evaluation. Early screening and treatment initiation can prevent blindness and other systemic complications associated with PPV.

Facomatosis pigmentovascular cesioflammea asociada a epilepsia focal mioclónica: Primer caso reportado en el Perú / Phakomatosis pigmentovascularis cesioflammea associated with focal myoclonic seizures: First case report in Peru

Resumen La facomatosis pigmentovascular es un síndrome congénito muy poco frecuente, caracterizado por la presentación simultánea de una malformación vascular capilar y una lesión cutánea pigmentaria, con o sin compromiso extracutáneo. Se presenta el caso de una adolescente con epilepsia que cursa con crisis mioclónicas focales no controladas por un tratamiento farmacológico irregular, y que muestra además lesiones cutáneas compatibles con nevus flammeus y melanosis dérmica, ocular y palatina, presentes desde el nacimiento. Se trata del primer reporte en el país, de un síndrome neurocutáneo poco frecuente y de su asociación clínica con epilepsia, resaltándose además la importancia de una evaluación integral de esta entidad.

Summary Phacomatosis pigmentovascularis is a rare congenital syndrome, characterized by the simultaneous presentation of a capillary vascular malformation and a cutaneous pigmentary lesion, without or with extracutaneous involvement. The case of an adolescent with epilepsy characterized by focal myoclonic seizures uncontrolled by an irregular pharmacological treatment, with skin lesions compatible with nevus flammeus and dermal, ocular and palatal melanosis since birth, is presented. This is the first report in the country of an infrequent neurocutaneous syndrome and its clinical association with epilepsy, highlighting besides the importance of a comprehensive evaluation of this entity.

[Syndromes with vascular skin anomalies]. / Syndrome mit vaskulären Anomalien der Haut.

BACKGROUND: In many complex genetic syndromes, various distinct capillary nevi may serve as diagnostic clues. OBJECTIVE: To render dermatologists in practice capable of recognizing and classifying such cutaneous markers. MATERIAL AND METHODS: On the basis of the literature and own observations, this review describes 14 different syndromes associated with capillary nevi that can be recognized by dermatologists as a diagnostic indication. RESULTS: The following capillary nevi can be distinguished for syndrome recognition: nevus flammeus of the Sturge-Weber syndrome (GNAQ), port-wine nevus of the Proteus type (AKT1), port-wine nevus of the PIK3CA-related overgrowth spectrum (PROS) type, midfacial port-wine patch of the PROS type, reticulate capillary nevus heralding megalencephaly-capillary nevus syndrome that is likewise part of PROS, cutis marmorata telangiectatica congenita (van Lohuizen syndrome), nevus roseus, nevus vascularis mixtus, rhodoid nevus (RASA1), nevus anemicus as a diagnostic indication of neurofibromatosis 1 and Carter-Mirzaa macules (STAMBP). CONCLUSION: A diagnostic difficulty lies in the fact that not all syndromes associated with capillary nevi have been elucidated at the molecular level. For this reason, the preliminary dimension of the present review should be borne in mind. On the other hand, dermatologists in practice now have the fascinating chance to stimulate further advances in this particular field of knowledge by asking experts in dermatology, pediatrics or medical genetics how to solve the problem of molecular syndrome recognition in a puzzling case.

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.

Phacomatosis pigmentovascularis (PPV) comprises a family of rare conditions that feature vascular abnormalities and melanocytic lesions that can be solely cutaneous or multisystem in nature. Recently published work has demonstrated that both vascular and melanocytic abnormalities in PPV of the cesioflammea and cesiomarmorata subtypes can result from identical somatic mosaic activating mutations in the genes GNAQ and GNA11. Here, we present three new cases of PPV with features of the cesioflammea and/or cesiomarmorata subtypes and mosaic mutations in GNAQ or GNA11. To better understand the risk of potentially occult complications faced by such patients we additionally reviewed 176 cases published in the literature. We report the frequency of clinical findings, their patterns of co-occurrence as well as published recommendations for surveillance after diagnosis. Features assessed include: capillary malformation; dermal and ocular melanocytosis; glaucoma; limb asymmetry; venous malformations; and central nervous system (CNS) anomalies, such as ventriculomegaly and calcifications. We found that ocular findings are common in patients with phacomatosis cesioflammea and cesiomarmorata. Facial vascular involvement correlates with a higher risk of seizures (p = .0066). Our genetic results confirm the role of mosaic somatic mutations in GNAQ and GNA11 in phacomatosis cesioflammea and cesiomarmorata. Their clinical and molecular findings place these conditions on a clinical spectrum encompassing other GNAQ and GNA11 related disorders and inform recommendations for their management.

Phacomatosis pigmentovascularis type 2b (phacomatosis cesioflammea) with double superior vena cava, abdominal varicosities, and natal tooth: Novel associations.

Phacomatosis pigmentovascularis is characterized by coexistent extensive cutaneous vascular (capillary) and pigmentary anomalies. We describe a 2-month-old infant presenting with classic features of phacomatosis pigmentovascularis 2b (phacomatosis cesioflammea). He was also found to have hitherto unreported associations in the form of extensive venous anomalies presenting as striking abdominal wall varicosities and persistent left superior vena cava and natal tooth.

Phacomatosis Pigmentovascularis Type II: Case Report

Phacomatosis pigmentovascularis is a rare syndrome first described by Ota et al, in 1947. It ischaracterized by a combination of capillary malformation and other pigmented naevi. It had originallybeen classified into four major types. A fifth type, in which the vascular lesion is cutis marmoratatelangiectatica congenita (CMTC), was subsequently added. Each type was further categorizedaccording to the absence or presence of associated extra-cutaneous signs as types (a) and (b),respectively. We reported this case due to its rare clinical presentation, with probable overlap Klippel-Trenaunay syndrome.

Sturge-Weber Syndrome Associated with Monolateral Ocular Melanocytosis, Iris Mammillations, and Diffuse Choroidal Haemangioma.

We present the case of a 12-year-old boy with Sturge-Weber syndrome and ocular melanocytosis who presented with bilateral naevus flammeus of the face and hyperpigmentation of the right iris associated with ipsilateral iris mammillations. The patient had glaucoma and a diffuse choroidal haemangioma of the right eye. Optical coherence tomography of the anterior segment confirmed iris hyper-pigmentation and did not show abnormalities of the chamber angle structures. B-scan ultrasonography and enhanced depth imaging optical coherence tomography were performed and showed a marked difference in thickness and reflectance between the right and left choroid. Visual field examinations with perimetry showed early defects in the right eye. Peripapillary optical coherence imaging showed borderline values of retinal nerve fibre layer thickness reduction in the right eye. Sturge-Weber syndrome associated with ocular melanocytosis and iris mammillations is an extremely rare condition. This paper highlights the role of multi-imaging methods in the enhanced evaluation of rare diseases towards choosing the most appropriate management strategies and improving the follow-up of patients over time.

Phacomatosis Cesioflammea with Cutis Marmorata-like Lesions and Unusual Extracutaneous Abnormalities: Is It a Distinct disorder?

A 2-month-old boy was presented with widespread lateralized blue macules (nevus cesius), an extensive nevus flammeus, and large patches of cutis marmorata telangiectatica congenita. Moreover, he had macrocephaly, a coarse facial appearance with depressed nasal bridge, retinal abnormalities, septal defects of the heart, and obliteration of the left brachiocephalic vein and major veins of the left arm with pronounced collateralization. The multisystem disorder of this boy cannot be categorized within the present classification of distinct types of phacomatosis pigmentovascularis. Although some similar complex cases have previously been reported, it seems too early to give them a specific name. Rather, the present case should be included, so far, into the group of unclassifiable types of phacomatosis pigmentovascularis.

Severe Rhabdomyolysis in Phacomatosis Pigmentovascularis Type IIb associated with Sturge-Weber Syndrome / 대한중환자의학회지

Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by concurrent nevus flammeus (capillary malformation) and pigmentary nevus. According to current research, the major pathophysiologic mechanism in PPV is venous dysplasia with resultant compensatory collateral channels and venous hypertension. Arterial involvement is rare. We herein report our experience on renovascular hypertension, intermittent claudication, and severe rhabdomyolysis due to diffuse stenosis of multiple arteries in a patient with PPV type IIb associated with SWS.

Severe Rhabdomyolysis in Phacomatosis Pigmentovascularis Type IIb associated with Sturge-Weber Syndrome / 대한구급학회지

Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by concurrent nevus flammeus (capillary malformation) and pigmentary nevus. According to current research, the major pathophysiologic mechanism in PPV is venous dysplasia with resultant compensatory collateral channels and venous hypertension. Arterial involvement is rare. We herein report our experience on renovascular hypertension, intermittent claudication, and severe rhabdomyolysis due to diffuse stenosis of multiple arteries in a patient with PPV type IIb associated with SWS.

Phacomatosis cesioflammea with Klippel Trenaunay syndrome: A rare association.

A 30-year-old Indian male presented with bilateral Nevus of Ota, extensive nevus flammeus over the trunk and left lower limb with soft tissue hypertrophy and varicosities affecting the left lower limb. He was otherwise in good general health. A diagnosis of Phacomatosis cesioflammea or Phacomatosis pigmentovasularis Type II with Klippel Trenaunay syndrome was made. The case is being reported on account of its rarity.

Facomatosis pigmentovascularisasociada a síndrome de Klippel-Trenaunay y a alopecia triangular: reporte de caso / Pigmentovascularis phacomatosis associated to Klippel-Trenaunay syndrome and triangular alopecia: a case report

La facomatosis pigmentovascularis se caracteriza por la coexistencia de malformaciones vasculares cutáneas con nevus melanocíticos y hasta en un 50 % de los casos puede tener compromiso sistémico. El sistema de clasificación tradicional identificaba cinco categorías, numeradas del I al V de acuerdo a la presencia de cierto tipo de nevus, subdivididos en tipo a y b dependiendo de si existe o no compromiso sistémico. Más recientemente, Happle propone una nueva categorización basada en los hallazgos clínicos así: cesioflammea (mancha mongólica y nevus flammeus), spilorosea (nevus de Spilus y nevus telangiectásico) y cesiomarmorata (mancha mongólica y cutis marmorata telangiectásico congénita), siendo la primera la más común. Se presenta el caso de un paciente masculino de tres años de edad, quien desde el nacimiento presentaba una malformación vascular capilar tipo nevus flammeus extenso, mancha mongólica, melanosis escleral e iris mamilado, una malformación venosa congénita localizada en la región suprapúbica, además de alopecia triangular, a quien se le hizo el diagnóstico inicial de facomatosis pigmentovascularis tipo cesioflammea y posteriormente se asoció a síndrome de Klippel Trenaunay.

Phacomatosis pigmentovascularis is a disorder characterized by cutaneous vascular malformations associated with melanocytic nevi: up to 50 % of patients have systemic involvement. The traditional classification system identifies 5 categories numbered from I to V according to the presence of certain types of nevi, and it subdivides the categories into type a and b, depending on whether or not systemic involvement is present. More recently, Happle proposed a new classification based on clinical findings as follows: cesioflammea (Mongolian spot and nevus flammeus), spilorosea (telangiectatic nevus and nevus Spilus) and cesiomarmorata (Mongolian spot and congenital telangiectatic cutis marmorata), the first one being the most common one. We present a case of a 3 year old male patient who presented at birth with a capillary vascular malformation, an extensive nevus flammeus, a Mongolian spot, scleral melanosis and mammilated iris, a suprapubic congenital venous malformation and triangular alopecia; he was diagnosed with cesioflammea phacomatosis pigmentovascularis that was later associated with Klippel Trenaunay Syndrome.

Facomatosis pigmentovascularis: revisión y nueva clasificación / Phacomatosis pigmentovascularis: review and new classification

La facomatosis pigmentovascularis es un síndrome infrecuente caracterizado por la asociación de un nevus vascular con un nevus pigmentario. Su etiología es desconocida. Se ha propuesto un modelo genético de didimosis o manchas gemelas. La clasificación previa establece cinco categorías, que a su vez se subdividen en a) cuando existe compromiso cutáneo y b) cuando existe compromiso cutáneo y sistémico. Se ha propuesto una nueva clasificación, más simple, que resume las 10 categorías previas en tres tipos definidos: facomatosis cesioflammea, facomatosis spilorosea y facomatosis cesiomarmorata. Además, agrega un cuarto tipo de FPV no clasificables. Se han descrito asociaciones con otras alteraciones de la piel, oculares, vasculares, neurológicas, inmunológicas y malformaciones, por lo cual es recomendable realizar un examen físico extenso y derivación a especialidades para descartar patologías asociadas. Presentamos el caso de una mujer de 27 años que presenta lesiones correspondientes a una facomatosis cesioflammea en la nueva clasificación.

Phacomatosis pigmentovascularis is an uncommon syndrome characterized by the association of a widespread vascular nevus with a pigmentary nevus. Its etiology is unknown. A twin spotting or didymosis genetic model has been proposed. The previous classification established five categories, further subdivided into a) when cutaneous involvement was present or b) when cutaneous and systemic involvement was present. A new, more straightforward classification has been proposed, which summarizes the ten previous categories into three distinct types: phacomatosis cesioflammea, phacomatosis spilorosea and phacomatosis cesiomarmorata. Furthermore, a fourth category of unclassifiable phacomatosis pigmentovascularis was added. Diverse associations of phacomatosis pigmentovascularis with other skin lesions, malformations, and ocular, vascular, neurological and immunological abnormalities have been described, hence the importance of an extensive physical examination and consultations to discard associated pathologies. We present the case of a 27 year old woman, diagnosed with phacomatosis cesioflammea, based on the new classification.