Facomatosis tipo Cesioflammea: Reporte de caso de neonato con Manchas Mongólicas y Vino oporto. Una presentación simple de una condición dermatológica compleja.

La facomatosis pigmentovascular es un conjunto de signos y síntomas caracterizado por la coexistencia de malformaciones vasculares capilares con una lesión pigmentaria cutánea congénita (nevo epidérmico, nevo spilus o melanosis dérmica) asociada o no, a manifestaciones sistémicas. Existen varios grupos de facomatosis pigmentovasculares según el tipo de nevo asociado a la lesión capilar vascular. Puede existir solo la afectación cutánea o tener manifestaciones sistémicas, entre ellas, traumatológicas, neurológicas, oftalmológicas, inmunológicas, renales, vasculares, linfáticas, entre otras. Exponemos el caso de un neonato masculino, quien presenta manchas vino oporto facial bilateral, cuello y tórax anterior y posterior, junto a melanocitosis dérmicas en espalda y ambos miembros inferiores, asociado a glaucoma congénito del ojo derecho. Debido a las manifestaciones clínicas cutáneas y sistémicas, se diagnostica facomatosis pigmentovascular, realizándose evaluación multidisciplinaria por radiología, dermatología, oftalmología, genética y neurología, para descartar afectación extracutánea. Los estudios complementarios son de vital importancia para detectar alteraciones extracutáneas, como se presentaron en el paciente.

Phakomatosis pigmentovascularis is set of signs and symptoms characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis) associated or not to systemic malformations. There are different types of phakomatosis pigmentovascularis according to the pigmentary nevus associated with the vascular malformation. There may be only the cutaneous condition or have systemic manifestations such as, trauma, neurological, ophthalmological, inmunological, renal, vascular, lymphatic, among others disorders. We present the case of a male newborn who had a port wine stain located bilaterally on the face, anterior and posterior thorax and neck, together with dermal melanocitosis in the back and lower extremities, associated with congenital glaucoma of the right eye. Due the clinical manifestations, the diagnosis of phakomatosis pigmentovascularis was made and multidisciplinary evaluation is requested by radiology, dermatology, ophthalmology, genetics and neurology to rule out extracutaneous involvement. Complementary studies are essential to detect extracutaneous alterations as presented in the patient.

Facomatosis pigmentovascular tipo cesioflammea: a propósito de un caso / Phakomatosis pigmentovascularis cesioflammea: a case report

La facomatosis pigmentovascular es un síndrome caracterizado por la coexistencia de malformación vascular capilar con una lesión pigmentada cutánea congénita (nevo epidérmico, nevo spilus o melanocitosis dérmica). Existen diversos grupos de facomatosis pigmentovascular que dependen del tipo de nevo asociado a la lesión vascular. Los pacientes pueden presentar solo la afección cutánea o tener manifestaciones sistémicas, entre ellas, traumatológicas, neurológicas y oftalmológicas. Se expone el caso de una niña de un año de edad, con antecedentes de glaucoma congénito. Además, presentaba parálisis facial, melanosis ocular bilateral, malformación vascular capilar en la hemicara al igual que en el hemicuerpo izquierdo y mancha mongólica aberrante en la región dorsal superior, la zona lumbosacra y ambos glúteos. Debido a las manifestaciones clínicas cutáneas, se diagnosticó facomatosis pigmentovascular y se solicitó una evaluación neurológica y traumatológica, además de continuar con controles oftalmológicos. Los estudios complementarios son importantes para detectar alteraciones extracutáneas, como se presentaron en esta paciente.

Phakomatosis pigmentovascularis (PPV) is a syndrome characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis). There are different types of PPV according to the pigmentary nevus associated with the vascular malformation. Patients may present only the cutaneous condition or have systemic manifestations, among them, trauma, neurological and ophthalmological disorders. We report the case of a 1-year-old girl who had congenital glaucoma. On examination, we identified facial paralysis, bilateral ocular melanosis, segmental capillary vascular malformation on the face as on left trunk and extremities, and aberrant Mongolian spots on the upper back, lumbosacral area and buttocks. Due to clinical manifestation, the diagnosis of PPV was made. The patient was evaluated by Neurology, Traumatology and keeps on with ophthalmological controls. Complementary studies are important, to rule out extracutaneous manifestations in PPV.

Sturge-Weber syndrome in association with Klippel-Trenaunay syndrome and phakomatosis pigmentovascularis type IIb.

Phakomatosis pigmentovascularis (PPV) is a rare combination of pigmentary and vascular components with or without systemic involvement. We report here a rare association of Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and PPV type IIb in a 15-year-old boy who had right upper limb monoparesis along with a history of recurrent convulsions.

An Infantile Case of Sturge-Weber Syndrome in Association with Klippel-Trenaunay-Weber Syndrome and Phakomatosis Pigmentovascularis

Sturge-Weber syndrome can be associated with facial port-wine stains and intracranial calcification, and concurrent Klippel-Trenaunay-Weber syndrome has been reported. Klippel-Trenaunay-Weber syndrome is a rare congenital mesodermal phakomatosis characterized by cutaneous hemangiomas, venous varicosities and soft tissue or bone hypertrophy of the affected extremities. This report is presented a rare case of the Sturge-Weber syndrome in combination with the Klippel-Trennaunay syndrome and phakomatosis pigmentovascularis in a 4-month-old infant. He showed nevus flameus on the right leg and both part of the face and back, leptomeningeal angiomatosis on right hemisphere, hypertrophy of the right leg, hemiconvulsion on the left and also evidences of congenital glaucoma and nevus of Ota. Very rare case combined with these three kinds of phakomatosis has been reported.

A Case of Phakomatosis Pigmentovascularis Type I a With Multiple Pyogenic Granulomas Developed in Pregnancy / 대한피부과학회지

Phakomatosis pigmentovascularis(PPV) was first described in 1947 as a distinctive association of vascular and pigmentary nevi by Ota et al. Hasegawa et al subclassified the disorder into eight types and type I a is characterized by the coexistence of nevus flammeus and nevus pigmentosus et verrucous, which is not associated with systemic organ involvement. PPV type I a is relatively rare and a case with multiple pyogenic granulomas developed in pregnancy, is not reported yet. We present a case of PPV type I a with multiple pyogenic granulomas developed in pregnancy within nevus flammeus in a 29-year-old female.

Phakomatosis Pigmentovascularis Associated with Pyogenic Granuloma as well as Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome

A 21-year-old Korean male was referred to our department in June, 1999 for the evaluation of extensive reddish patches and gray-bluish pigmentation since birth. Physical examination revealed two kinds of patches over the various parts of the body. Reddish patches suggesting nevus flammeus were located on the left side of face, chest, and both upper and lower extremities. Gray-bluish pigmented patches suggesting nevus of Ota were found on both the periorbital areas. A 0.5×0.6 cm erythematous papule was found on the right anterior chest. The results of its histopathologic examination were compatible with pyogenic granuloma. We made the diagnosis of phakomatosis pigmentovascularis associated with pyogenic granuloma as well as Sturge-Weber syndrome and Klippel-Trenanunay syndrome.

A Case of Phakomatosis Pigmentovascularis Associated with Congenital Glaucoma / 대한피부과학회지

Phakomatosis pigmentovascularis is a neural crest disorder that is found almost exclusively in Asians. Type II is a syndrome in which extensive nevus flammeus is associated with persistent aberrant mongolian spots. We report a case of phakomatosis pigmentovascularis associated with congenital glaucoma in neonate.

A Case of Phakomatosis Pigmentovascularis Type IIb Associated with Perirenal Lipomatosis / 대한피부과학회지

Phakomatosis pigmentovascularis is a distinctive association of cutaneous hemangiomas and melanocytic nevi. The hemangiomas consist of extensive nevus flammeus, while the melanocytic lesions may be aberrant mongolian spots, nevus spilus, nevus of Ota, and nevus of Ito. Four types of the disorder have been recognized, each of which are subgrouped further by the abscence (type a) or presence(type b) of systemic organ involvement. We present a case of phakomatosis pigmentovascularis associated with Klippel-Trenaunay-(Parkes)-Weber sydrome, Sturge-Weber syndrome, nevi of Ota and Ito and perirenal lipomatosis in a 13-year-old girl. To the best of our knowledge, the coexistance of the perirenal lipomatosis in phakomatosis pigmentovascularis has not been reported.

A Case of Congenital Glaucoma Associated with Phakomatosis Pigmentovascularis

Phakomatosis pigmentovascularis is a developmental syndrome associated with cutaneous hemangioma with melanocytic or epidemal nevi. It was first reported in 1947 by Ota, and can be classified into localized and systemic forms. Melanosis oculi is a common finding in phakomatosis pigmentovascularis, and glaucoma has also been reported. The authors report a case of bilateral congenital glaucoma associated withphakomatosis pigmentovascularis type IIb in a 2-month-old girl who underwent trabeculotomy, followed by successful control of intraocular pressure for the period of 12 months follow-up.

A Case of Phakomatosis Pigmentovascularis Associated with Leg - Length Discrepancy / 대한피부과학회지

Phakomatosis pigmentovascularis was first reported in 1947 as adiease complex with a distinct association of pigmentary nevus such as nevus of Ota, nevus of Ito, bilon golian spots, nevus spilus and cutaneous hemangioma such as nevus flammeus, which wss assoeisted with systemic organ involvment, We report a case of phakomatosis pigmentovascularis in a 11-year-old girl who had nevus flammeus, nevus spilus, and n.evus of Ota over various parts of her bo by since birth. She was also associated with leg-length discrepancy, but other systemic involvement was absent,

Abnormal Imposition of hands as a Possible Cause of Syphilis / 대한피부과학회지

Syphilis is a communicahble disease caused by the motile microaerophilic spirochete Treponema pallidum, which is only a netural pathogen for human. Prevalence of syphilis and other sexually transmitted diseases has traditioially fluctuated with changes in sccia, conditions and sexual behavior. Although sexual contact is the main route of transmission, T. pallidum may also be infected through direct contact with syphilitic lesions, blood transfusion, ingestion of menstrual blood or vaginal secretions, or trsnsplacental transemission. Fomites as the means of transfer is only hypothetical and account for very few, if any, infection. Prosectors, blood handlers and laboratory technicians are at risk for accidental inoculation with infected materials. In extremely unusual circumstances, infection by means of contact with a skin lesion and human bite have been reported. We report two cases of eyphilis following the abnormal imposition of hands, which caused unnecessary erosive trauma with fingernails,

Phakomatosis Pigmentovascularis

Phakomatosis pigmentovascularis was first described in 1947 as a distinctive association of cutaneous hemangioma and pigmentary nevi by Ota et al. We describe a 7-year-old boy who, since birth, had three kinds of discolored patches over the various parts of the body: blue spots (dermal melanocytic nevi), reticulated reddish patches (nevus flammeus), and hypopigmented macules (nevus anemicus). No systemic disease was found.

Four Cases of Phakomatosis Pigmentovascularis / 대한피부과학회지

Dermal melanocytosis such as nevus of Ota and extensive Mongolian spots are sometimes associated with hemangiomatous changes. Ota gave the designation of phakorriatosis pigmentovascularis to a spectrum of these combinations. We oLserved four cases of phakomatosis pigmentovascularis. They showed extensive, various dermal melanocytosis and widespread nevus flammeus. They exhibited signs of involvement of the systemic organs such as abnormality of electroencephalograrn, soft tissue hypertrophy and convulsion.