ABSTRACT
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.
ABSTRACT
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.
Subject(s)
Humans , Female , Infant , Neurocutaneous Syndromes/diagnosis , PhenotypeABSTRACT
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.
Subject(s)
Adolescent , Humans , Klippel-Trenaunay-Weber Syndrome/complications , Klippel-Trenaunay-Weber Syndrome/epidemiology , Male , Phenotype , Pigmentation Disorders/complications , Port-Wine Stain/complications , Sturge-Weber Syndrome/epidemiology , Sturge-Weber Syndrome/etiologyABSTRACT
A neurofibromatose tipo 1 (NF1) é a forma mais comum das facomatoses autossômicas dominantes, com uma incidência de 1 em 2.500 a 1 em 3.000 ao nascimento. Clinicamente, a NF1 é caracterizada por manchas café com leite, efélides, neurofibroma da pele, neurofibroma plexiforme, defeitos ósseos, nódulos de Lisch e tumores do sistema nervoso central. O neurofibroma plexiforme, um raro tumor exclusivo de pacientes com NF1, é um tumor benigno da bainha dos nervos periféricos que se espalha sob a pele ou profundamente no corpo. O diagnóstico diferencial da NF1 inclui outras formas de neurofibromatose, afecções com manchas café com leite ou com alterações pigmentares confundidas com manchas café com leite. Uma mulher de 28 anos foi admitida no Hospital Universitário de Santa Maria, apresentando uma massa com grande aumento em seu braço direito com 24 anos de evolução. O aumento se desenvolveu em uma mancha café com leite que estava presente desde o nascimento. Não havia história familiar de neurofibromatose. Foi realizado diagnóstico clínico de NF1 com neurofibroma plexiforme do braço direito
Neurofibromatosis type 1 (NF1) is the most common form of autosomal dominant phakomatoses with an incidence of 1 in 2,500 to 1 in 3,000 at birth. Clinically, NF1 is characterized by café au lait spots, ephelides, skin neurofibroma, plexiform neurofibroma, bone defects, Lisch nodules, and tumors of the central nervous system. Plexiform neurofibroma, a rare tumor unique to patients with NF1, is a benign tumor of peripheral nerve sheath that spreads under the skin or deep in the body. The differential diagnosis of NF1 includes other forms of neurofibromatosis, conditions with café au lait spots or pigment changes confused with café au lait spots. A 28-year-old woman was admitted to the University Hospital of Santa Maria with a largely increased mass in her right arm with 24 years of evolution. The increase developed from a cafe au lait spot that was present since birth. There was no family history of neurofibromatosis. Clinical diagnosis of NF1 with plexiform neurofibroma of the right arm was made
Subject(s)
Humans , Female , Adult , Neurofibroma, Plexiform/diagnosis , Neurofibroma, Plexiform/pathologyABSTRACT
Las neurofibromatosis, son trastornos de origen genético del sistema nervioso, que afectan al desarrollo y crecimiento de los tejidos de las células neurales; estos trastornos ocasionan tumores que crecen en los nervios y producen otras anormalidades tales como cambios en la piel y deformidades en los huesos, entre otros. Esta patología ocurre en ambos sexos, en todas las razas y grupos étnicos; se las ha clasificado en tipo I y II, aunque existen otros tipos o variantes, pero no están claramente definidas. Presentamos el caso de un paciente sexo masculino, 44 años, que acude para un examen médico preocupacional, y presenta tumoraciones diseminadas, de aspecto nodular, además de manchas color marrón claro igualmente diseminadas y deformidad en la columna vertebral; luego del examen físico y placas de rayos X de región dorso-lumbo-sacra, con más de dos criterios a favor, se diagnostica clínicamente Neurofibromatosis tipo 1.
Neurofibromatosis is genetic disorders of the nervous system affecting the development and growth of the neural cells tissues. These disorders produce tumors growing in the nerves and other abnormalities such as changes in the skin and deformities in the bones among others. This pathology, happens in both sexes, in all races and ethnic groups; it has been classified in types I and II, though there are other types and variants, but they are not clearly defined. We present the case of a male patient, 44 years old that comes for a medical exam before being admitted in a new job. He presented disseminated tumors with nodular appearance and light brown spots also disseminated and backbone deformity. After physical examination and X-ray of dorsal, lumbar and sacral regions of the spine, with more than two criteria met we make the clinical diagnosis: Nuerofibromatosis Type I.
Subject(s)
Male , Adult , Congenital Abnormalities , Neurofibromatosis 1 , Cochlear Nerve , Genes, Neurofibromatosis 1 , Neurilemmoma , NeurofibromaABSTRACT
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.
Subject(s)
Humans , Infant , Male , Klippel-Trenaunay-Weber Syndrome/complications , Neurocutaneous Syndromes/complications , Sturge-Weber Syndrome/complicationsABSTRACT
Lhermitte-Duclos disease, or dysplastic gangliocytoma of the cerebellum, is a peculiar hamartoma arising from the cerebellar cortex. Cowden disease, which is also termed as a multiple hamartoma-neoplasia syndrome, is an unusual autosomal dominant disorder characterized by mucocutaneous lesions, including facial papules, gingival papillomas, and acral keratoses. Other systemic hamartomas are frequently present, and there are high incidence of breast, thyroid, and genitourinary malignancies. Recently, it is accepted that Lhermitte-Duclos disease is a part of Cowden disease, a new phakomatosis. Recognition of this association has clinical significance, because diligent long-term follow-up monitoring of individuals with Lhermitte-Duclos disease and Cowden disease may lead to the early detection of malignancy.
Subject(s)
Breast , Cerebellar Cortex , Follow-Up Studies , Hamartoma , Hamartoma Syndrome, Multiple , Incidence , Keratosis , Neurocutaneous Syndromes , Papilloma , Thyroid GlandABSTRACT
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.
Subject(s)
Adult , Female , Humans , Pregnancy , Granuloma, Pyogenic , Neurocutaneous Syndromes , Nevus , Port-Wine StainABSTRACT
We report a case of dysplastic gangliocytoma of the cerebellum(Lhermitte-Duclos disease) that can cause progressive mass effect in the posterior fossa. Cowden disease is a rare autosomal dominant disorder characterized by mucocutaneous hamartoma and high incidences of systemic malignancies. The patient had no mucocutaneous lesions indicating Cowden disease. With recent advances in molecular genetics, the association between Lhermitte-Duclos disease and Cowden disease has been recognized, it is considered that Cowden disease is a new phakomatosis. Recognition of this association has direct clinical relevance and long term follow up may lead to the early detection of malignancy.
Subject(s)
Humans , Ganglioneuroma , Hamartoma , Hamartoma Syndrome, Multiple , Incidence , Molecular Biology , Neurocutaneous SyndromesABSTRACT
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.
Subject(s)
Humans , Male , Young Adult , Diagnosis , Granuloma, Pyogenic , Klippel-Trenaunay-Weber Syndrome , Lower Extremity , Neurocutaneous Syndromes , Nevus of Ota , Parturition , Physical Examination , Pigmentation , Port-Wine Stain , Sturge-Weber Syndrome , ThoraxABSTRACT
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.
Subject(s)
Humans , Infant, Newborn , Asian People , Glaucoma , Mongolian Spot , Neural Crest , Neurocutaneous Syndromes , Port-Wine StainABSTRACT
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.
Subject(s)
Adolescent , Female , Humans , Hemangioma , Lipomatosis , Mongolian Spot , Neurocutaneous Syndromes , Nevus , Nevus of Ota , Nevus, Pigmented , Port-Wine Stain , Sturge-Weber SyndromeABSTRACT
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.
Subject(s)
Female , Humans , Infant , Follow-Up Studies , Glaucoma , Hemangioma , Intraocular Pressure , Melanosis , Neurocutaneous Syndromes , Nevus , TrabeculectomyABSTRACT
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,
Subject(s)
Humans , Bites, Human , Blood Transfusion , Eating , Fomites , Hand , Laboratory Personnel , Nails , Prevalence , Sexual Behavior , Sexually Transmitted Diseases , Skin , Spirochaetales , Syphilis , Treponema pallidumABSTRACT
We present a case of systemic lupus erythematosus(SLE) asseci ted with vitiligo in a 57 year-old male patient. Physical examination revealed two distinct skin lesions those of itiligo showed as centrally located depigmented patches surrounded by erythernatous patch on the right cheek, scalp and left dorsurn of hand and those of SLE showed as erythematous papules and patchs with partial adherent scales on the face, scalp, neck, both extensor surface of arm, and left dorsun of hand. Their coexistence lends credence to the contention that altered autoimrnunity may play a role in the pathogenesis of each of these diseases. In Western countries and Japen, patients with lupus erythema osis have been observed to develop vitiligo or depigmented spots on the skin, while in Korea, its has not been previously observed.
Subject(s)
Humans , Male , Middle Aged , Arm , Cheek , Erythema , Hand , Korea , Lupus Erythematosus, Systemic , Neck , Physical Examination , Scalp , Skin , Vitiligo , Weights and MeasuresABSTRACT
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,
Subject(s)
Child , Female , Humans , Hemangioma , Leg , Neurocutaneous Syndromes , Nevus , Nevus of Ota , Parturition , Port-Wine StainABSTRACT
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.
Subject(s)
Child , Humans , Male , Hemangioma , Neurocutaneous Syndromes , Nevus , Parturition , Port-Wine StainABSTRACT
Phakomatosis pigmentovascularis is characterized by the coexistence of pigmentary and vascular nevi, which are occasionally associated with systemic organ involvement. We report a 12-year-old male, who showed bilateral nevus of Ota on the forehead, periorbital area, sclera and soft palate, nevus of Ito on the scapular area, mongolian spot on the sacral area and widespread nevus flammeus. He was also associated with congenital temporal alopecia on the lower portion of left temporal region since birth.
Subject(s)
Child , Humans , Male , Alopecia , Forehead , Mongolian Spot , Neurocutaneous Syndromes , Nevus , Nevus of Ota , Palate, Soft , Parturition , Port-Wine Stain , ScleraABSTRACT
Phakomatosis pigmentova.scularis is a disease complex with dermal melanocyto sis such as nevus of Ota, nevus of Ito, or Mongolian spots and extensive hemangiomatous change such as nevus flammeus, which are associated with systemic organ involvement. We report a 23-year-old female, who showed bilateral nevus of Ota and nevus of Ito with widespread nevus flammeus and Mongolian spots since birth. She was also associated with megalocornea due to congenitol glaucoma and cataract.
Subject(s)
Female , Humans , Young Adult , Cataract , Glaucoma , Mongolian Spot , Neurocutaneous Syndromes , Nevus , Nevus of Ota , Parturition , Port-Wine StainABSTRACT
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.