ABSTRACT
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.
ABSTRACT
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.
ABSTRACT
Phacomatosis pigmentovascularis is a rare group of syndromes characterized by the co-existence of a vascular nevus and a pigmentary nevus with or without extracutaneous systemic involvement. The existing classifi cations of phacomatosis pigmentovascularis are based on phenotypic characteristics. We report four new cases of phacomatosis pigmentovascularis, three with phacomatosis cesiofl ammea demonstrating phenotypic variability, and one with phacomatosis cesiomarmorata. Extracutaneous manifestations were observed in three patients (75%) that included central nervous system involvement in three, bilateral congenital glaucoma in two, and cardiovascular system involvement in one. The molecular basis of phacomatosis pigmentovascularis is yet to be elucidated. Whether the various subtypes of phacomatosis pigmentovascularis are separate molecular entities or phenotypic variants of the same disease needs to be settled.
ABSTRACT
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.
Subject(s)
Humans , Arteries , Constriction, Pathologic , Hypertension , Hypertension, Renovascular , Intermittent Claudication , Intracranial Aneurysm , Neurocutaneous Syndromes , Nevus , Port-Wine Stain , Rhabdomyolysis , Sturge-Weber Syndrome , Vascular DiseasesABSTRACT
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.
Subject(s)
Humans , Arteries , Constriction, Pathologic , Hypertension , Hypertension, Renovascular , Intermittent Claudication , Intracranial Aneurysm , Neurocutaneous Syndromes , Nevus , Port-Wine Stain , Rhabdomyolysis , Sturge-Weber Syndrome , Vascular DiseasesABSTRACT
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.
Subject(s)
Humans , Klippel-Trenaunay-Weber Syndrome , Neurocutaneous Syndromes , Vascular MalformationsABSTRACT
Phacomatosis cesioflammea is a rare condition defined by the simultaneous presence of both vascular and pigmentary nevus in the same patient. We report a case of a 4-year-old Indian female child who presented with diffuse dermal melanosis on the upper shoulders, upper anterior chest and lower back and extending to involve both sides of the arms and forearms, generalized port-wine stain on the back, shoulders and both upper limbs with sparing of the right palm. At places, the two types of lesions were superimposed on each other and were also present discretely on the back, but in close proximity to each other. There was the presence of melanosis bulbi on the right side of the eye. She was otherwise normal. She was clinically diagnosed as a case of phacomatosis pigmentovascularis cesioflammea. The nonallelic twin spotting phenomenon has been proposed in the pathogenesis of this disorder.
ABSTRACT
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.