"Phakomatosis"

Clinical Insights into a Large Cohort of Phakomatosis Pigmentovascularis. 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 anaemia, 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 multi-centric study involving 4 tertiary network institutes in India. The diagnosis of PPV was established based on the concurrent presence of pigmentary nevi and capillary

Outcomes of Microcatheter-assisted Trabeculotomy for Glaucoma Associated with Sturge-Weber Syndrome and Phakomatosis Pigmentovascularis. To evaluate mid-term efficacy and safety of ab externo microcatheter-assisted trabeculotomy (MAT) for early-onset glaucoma associated with Sturge-Weber syndrome (SWS) and phakomatosis pigmentovascularis (PPV). Retrospective, non-comparative, interventional case

Ocular Manifestations of Facial Port-wine Stain, Nevus of Ota and Phakomatosis Pigmentovascularis in Asians. Heightened intraocular pressure resulting in glaucoma and impaired vision is treatable if detected early. It is therefore necessary to identify populations at risk for glaucoma for regular screening visits. To investigate the prevalence of glaucoma in patients with facial port-wine stains (PWSs), nevus of Ota, and phakomatosis pigmentovascularis (PPV) and to establish the association between facial vascular birthmarks and ocular complications. This study is a retrospective chart review of 166 patients with facial PWS, PPV, and nevus of Ota over a 10-year period. Of the 166 cases, 76 patients were diagnosed with PWS, 83 with nevus of Ota, and 7 with PPV. The mean age of patients

CHOROIDAL MELANOMA IN PHAKOMATOSIS PIGMENTOVASCULARIS WITH KLIPPEL-TRENAUNAY SYNDROME. To describe the relationship of choroidal melanoma with phakomatosis pigmentovascularis in patients with Klippel-Trenaunay syndrome. Retrospective review of 5 patients. In all 5 cases, the patient was white and the cutaneous port-wine stain was congenital. The port-wine stain involved the chin (n = 1), jawline mm (median 6.1, range 2-9), revealing intrinsic tumor pigment and subretinal fluid in all cases. Melanoma management included plaque radiotherapy (n = 3), thermotherapy (n = 1), or enucleation (n = 1). At mean follow-up of 4 years, one patient demonstrated melanoma-related metastasis with death. Phakomatosis pigmentovascularis represents coexistence of Klippel-Trenaunay syndrome (or Sturge-Weber

Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis. Evaluation for intracranial lesions in a patient with retinal cavernous hemangiomas is vital for early recognition of this heritable and potentially life-threatening disease. We report a case of a highly penetrant but variably expressed form of cerebral cavernous malformation syndrome with cerebral, cutaneous

Mosaic activating mutations in GNA11 and GNAQ are associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and associated with extracutaneous abnormalities. Co -occurrence with vascular birthmarks defines a subtype of phakomatosis pigmentovascularis, a group of syndromes associated with neurovascular, ophthalmological, overgrowth, and malignant complications. Here, we discover that extensive dermal melanocytosis and phakomatosis pigmentovascularis are associated with activating mutations in GNA11 and GNAQ, genes that encode Gα subunits of heterotrimeric G proteins

Bilateral Sturge-Weber and Phakomatosis Pigmentovascularis with Glaucoma, an Overlap Syndrome Aim. To report a case of bilateral Sturge-Weber and Phakomatosis pigmentovascularis with secondary glaucoma in a child. Method. Results. A 4-year-old male child was referred to us for control of intraocular pressure (IOP). Sleeping IOP was 36 mm Hg in right eye and 28 mm Hg in the left eye. The sclera

Phakomatosis Pigmentovascularis Associated With Sturge-Weber Syndrome, Ota Nevus, and Congenital Glaucoma. Phakomatosis pigmentovascularis (PPV) is a rare congenital malformation syndrome that is characterized by a combination of capillary abnormalities and dermal melanocytosis.We describe 3 cases of PPV combined with bilateral Sturge-Weber syndrome (SWS), Ota nevus, and congenital glaucoma.Case

GNAQ/GNA11 mosaicism is associated with abnormal serum calcium indices and microvascular neurocalcification. Mosaic mutations in genes GNAQ or GNA11 lead to a spectrum of diseases including Sturge-Weber syndrome (SWS) and phakomatosis pigmentovascularis with dermal melanocytosis (PPV-DM). The pathognomonic finding of localised "tramlining" on plain skull radiography, representing medium-sized

mosaicism in human disease; however, the study of mosaic disorders has recently revealed unexpected and novel pathways for disease pathogenesis. In this paper, we will review the techniques for discovery of disease-causing alleles using Proteus syndrome; phakomatosis pigmentokeratotica; linear porokeratosis; and vacuoles, E1 enzyme, X-linked, autoinflammatory somatic syndrome as models. These tools

Incontinentia pigmenti and the eye. Incontinentia pigmenti (IP) is a rare X-linked dominant phakomatosis that predominately presents with dermatologic manifestations but can also cause central nervous system and ocular abnormalities. Awareness of the ocular complications of IP is crucial to identify ocular abnormalities early and prevent permanent vision loss. There have been significant recent

PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma. Phakomatosis pigmentovascularis is a diagnosis that denotes the coexistence of pigmentary and vascular birthmarks of specific types, accompanied by variable multisystem involvement, including CNS disease, asymmetrical growth, and a predisposition to malignancy. Using a tight phenotypic group and high-depth next-generation sequencing of affected tissues, we discover here clonal mosaic variants in gene PTPN11 encoding SHP2 phosphatase as a cause of phakomatosis pigmentovascularis type III or spilorosea. Within an individual, the same variant is found in distinct pigmentary and vascular birthmarks and is undetectable in blood. We go on to show that the same variants can cause

vascularized glial tumor of the retina. There is no known association of these two entities, more so in siblings. A pair of siblings diagnosed as LCA who presented with RAH with no extraocular symptoms or signs of phakomatosis were imaged. Multimodal imaging was performed and are elaborately described in this article. LCA in siblings with multiple RAHs is an extremely rare association. Recent advances

malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes

Sonographic and magnetic resonance imaging findings of neurocutaneous melanosis Neurocutaneous melanosis is a rare nonfamilial phakomatosis characterized by large or multiple congenital melanocytic nevi plus the presence of central nervous system melanosis or melanoma. We report a case of a male infant with a giant posteroaxial nevus and evidence of intracranial melanosis on ultrasound

or develop later in life. The exact etiology of this condition remains unknown. Rarely, it may be associated with other disorders such as Down's syndrome and phakomatosis pigmentovascularis. The diagnosis is based on its distinct clinical appearance. Histologically, hair follicles are miniaturized and replaced by sparse vellus hair follicles. Tricoscopy using a polarized light handheld dermatoscope can

English Phacomatosis, Phakomatosis, Phakomatoses, Phakomatosis, unspecified, NEUROCUTANEOUS DIS, neurocutaneous disorders (diagnosis), neurocutaneous disorders, Neurocutaneous Disorder, Neurocutaneous Disorders, Neuroectodermal Dysplasia Syndrome, Neuroectodermal Dysplasia Syndromes, Syndrome, Neuroectodermal Dysplasia, Syndromes, Neuroectodermal Dysplasia, Neurocutaneous Syndromes, Syndrome , Neurocutaneous, Syndromes, Neurocutaneous, Phacomatoses, Neurocutaneous Syndrome, Neurocutaneous Syndromes [Disease/Finding], neurocutaneous syndromes, phacomatosis, phacomatoses, phakomatoses, neurocutaneous syndrome, anomalies of skin phakomatoses, Phakomatoses (diagnosis), Neurocutaneous disorders, Neurocutaneous syndrome, Neuroectodermal dysplasia, Neurocutaneous syndrome (disorder), phakomatosis

Syndrome, Sturge-Weber sequence, Sturge-Weber syndrome (disorder), Sturge-Weber syndrome, Sturge-Weber sequence (disorder), Sturge Disease, Encephalofacial Hemangiomatosis Syndrome, Hemangiomatosis Syndrome, Encephalofacial, Syndrome, Encephalofacial Hemangiomatosis, Sturge Weber Krabbe Syndrome, Sturge-Weber-Krabbe Syndrome, Syndrome, Sturge-Weber-Krabbe, Phakomatosis, Sturge Weber, Phakomatosis, Sturge -Weber, Sturge-Weber Phakomatosis, SWS, Sturge-Weber(-Dimitri) syndrome, Sturge-Weber Syndrome [Disease/Finding], parkes weber syndrome, sturge weber disease, sturge syndrome weber, neurocutaneous syndrome, sturge weber syndrome, sturge-weber syndrome, sturges weber syndrome, sturges syndrome weber, syndrome webers, webers syndrome, sturge-weber disease, weber syndrome, Parkes Weber Syndrome, Syndrome

patients with primary congenital glaucoma, 5 eyes of 3 patients with glaucoma associated with congenital cataract surgery, 4 eyes of 2 patients with glaucoma associated with a systemic condition, and 1 eye of 1 patient with phakomatosis pigmentovascularis Type II. RetCam fundus photography images and digital fluorescein angiography were performed under general anesthesia. The most common finding observed

Pleomorphic xanthoastrocytoma in a case of tuberous sclerosis Tuberous sclerosis is a known phakomatosis and the associated finding of a subependymal giant cell astrocytoma is common with this disorder. A case of tuberous sclerosis with a finding not previously reported, i.e. that of a pleomorphic xanthoastrocytoma, is presented here.