1/18. Phakomatosis pigmentovascularis: A new case with renal angiomas and some considerations about the classification.We report phakomatosis pigmentovascularis detected in a Caucasian child characterized by the presence of a nevus flammeus and nevus anemicus on the face, a telangiectatic linear nevus of the right leg, and a very extensive blue spot covering 60% of the body surface, with ocular melanosis. Multiple angiomatous lesions of the kidney are associated without alterations of the central nervous system (CNS). This association has not been reported before; it could be a further expression of the complex of developmental defects. Our case corresponds exactly to type IIb in the classification of phakomatosis pigmentovascularis proposed by Hasegawa. As this classification seems very extensive, the higher incidence of cases corresponding to the second subtype suggests that we should identify it by the term phakomatosis pigmentovascularis, while the others could be considered as only very uncommon variants.- - - - - - - - - - ranking = 1keywords = phakomatosis (Clic here for more details about this article) |
2/18. Phakomatosis pigmentovascularis type IIIb associated with moyamoya disease.We diagnosed phakomatosis pigmentovascularis type IIIb in an 11-month-old baby who had a giant nevus spilus, a nevus flammeus, and moyamoya disease. Development of the patient was normal until 6 months of age when he developed a sudden onset of focal seizures and left hemiparesis. This patient represents the sixth case of phakomatosis pigmentovascularis type IIIb, including three cases in the Japanese literature, reported thus far. However, to our knowledge, this is the first case with an association to moyamoya disease.- - - - - - - - - - ranking = 0.66666666666667keywords = phakomatosis (Clic here for more details about this article) |
3/18. Leptomeningeal melanoma in childhood.BACKGROUND: Malignant melanoma (MM) is one of the least common types of childhood cancer, accounting for less than 1% of all pediatric malignancies. Neurocutaneous melanosis (NCM) is a rare phakomatosis consisting of congenital abnormal pigmentation of the skin and meninges. The meningeal lesions are particularly prone to malignant change. methods: The authors describe 5 patients with NCM and 1 with primary leptomeningeal melanoma (LMM) seen at 2 treatment centers in the north of england over a 13-year period (1984-1997). RESULTS: The clinical features, progress, radiological findings, and treatment of these patients are discussed. All six died within eight months of their diagnosis, illustrating the difficulties faced in treating patients with these conditions. The authors reviewed the published literature on NCM, concentrating on the various therapeutic strategies that have been tried. Very little consistency in approach was found. Malignant skin lesions in NCM may be less responsive than primary malignant melanoma, but the small number of patients with primary LMM or brain metastases of MM make comparisons with NCM difficult. The authors' own series illustrates well the piecemeal nature of therapy for patients with these rare conditions. CONCLUSIONS: The rate of incidence of MM melanoma in the U.K. is increasing, and it will represent an increasing proportion of the pediatric oncologist's workload. A consistent approach to the therapy of patients with metastatic MM and NCM is needed if we are to have any hope of offering more than palliative therapy to these children in the future.- - - - - - - - - - ranking = 0.33333333333333keywords = phakomatosis (Clic here for more details about this article) |
4/18. Port-wine-stain (nevus flammeus), congenital Becker's nevus, cafe-au-lait-macule and lentigines: phakomatosis pigmentovascularis type Ia--a new combination.A 16-year-old male had brown macules in a geographic pattern with increased terminal hair on the back and dusky red partially blanchable non progressing macules on his left thigh since birth. Clinical diagnoses of Becker's nevus and port-wine-stain were made and confirmed histopathologically. In addition, he had multiple lentigines on the face and trunk and a single cafe-au-lait-macule on his chest.- - - - - - - - - - ranking = 1.3333333333333keywords = phakomatosis (Clic here for more details about this article) |
5/18. Phakomatosis pigmentovascularis and Lisch nodules. Relationship between Von Recklinghausen and phakomatosis pigmentovascularis?In 1947, Ota described a malformative syndrome associating a vascular component (nevus flammeus) with melanocytic or epidermic nevi, which he named phakomatosis pigmentovascularis (PPV). We will discuss the case of a 10-year-old boy presenting giant nevus flammeus, nevus spillus, asymmetry in the development of both lower limbs, characteristic of PPV, together with interventricular communication and Lisch nodules, representative of Von Recklinghausen's disease. We believe that this case can be classified as PPV type IIb, associated with Lisch nodules and rarely described in Caucasian individuals.- - - - - - - - - - ranking = 1.6666666666667keywords = phakomatosis (Clic here for more details about this article) |
6/18. Neurocutaneous melanosis.BACKGROUND: Neurocutaneous melanosis (NCM) is a rare phakomatosis characterized by a focal or diffuse proliferation of melanin-producing cells in both the skin and the leptomeninges. This syndrome is believed to result from an error in the morphogenesis of embryonal neuroectoderm. FEATURES: Two-thirds of patients with NCM have giant congenital melanocytic nevi, and the remaining third have numerous lesions but no giant lesions. Most patients present neurological manifestations early in life, which can be secondary to intracranial hemorrhages, to impairment of cerebrospinal fluid circulation, and to malignant transformation of the melanocytes. prognosis: The prognosis of patients with symptomatic neurocutaneous melanosis is extremely poor, even in the absence of malignancy. Chemotherapy has been ineffective in the few patients in whom it has been tried.- - - - - - - - - - ranking = 0.33333333333333keywords = phakomatosis (Clic here for more details about this article) |
7/18. Fundus features of a case of neurocutaneous melanosis.A 5-year-old girl with giant cutaneous congenital melanocytic nevi was examined because of right esotropia. She had multiple uveal coloboma-like lesions of various sizes and irregular areas of retinal pigment epithelial alterations in the right fundus. magnetic resonance imaging studies demonstrated right-sided ventriculomegaly, right intraventricular presumed dysplastic neuroectodermal tumor, and right-sided cortical migration anomaly. The clearly lateralized ocular, cutaneous, and central nervous system findings in this patient may point towards a probable common underlying pathogenetic mechanism involving the neural crest cells at the center stage. These findings also help to strengthen the view that neurocutaneous melanosis may represent a rare form of phakomatosis.- - - - - - - - - - ranking = 0.33333333333333keywords = phakomatosis (Clic here for more details about this article) |
8/18. Primary choroidal melanoma in phakomatosis pigmentovascularis IIa.PURPOSE: To describe a previously unreported association between phakomatosis pigmentovascularis (PPV) IIa and primary choroidal melanoma. DESIGN: Case series. PARTICIPANTS: Three patients with PPV type IIa and choroidal melanoma. RESULTS: nevus flammeus was present unilaterally in each patient, involving the hemiface, the hemithorax, or both. Ocular melanocytosis also was present unilaterally in all patients involving the sclera, the iris, the choroid, the distribution of the trigeminal nerve, or a combination thereof. Renal cysts were noted in patient 1, and a nevus anemicus of the neck was noted in patient 3. A unilateral choroidal melanoma was detected in each of these 3 patients, in each patient involving the same eye in which melanocytosis had been seen. No metastases were found in any patient. CONCLUSIONS: Clinicians should be aware of the possibility that PPV, and in particular that occurring in patients with ocular melanocytosis, can be associated with choroidal melanoma.- - - - - - - - - - ranking = 1.6666666666667keywords = phakomatosis (Clic here for more details about this article) |
9/18. Multiple granular cell tumors associated with giant speckled lentiginous nevus and nevus flammeus in a child.We describe an 11-year-old girl in whom multiple cutaneous granular cell tumors were associated with a giant speckled lentiginous nevus and an extensive nevus flammeus. An association between granular cell tumors and pigmented skin lesions has been reported twice previously and supports a neural origin for these tumors. An abnormality of neural crest development is proposed to explain the coexistence of three uncommon and unusually extensive cutaneous disorders in this patient. This case may represent a further variant of phakomatosis pigmentovascularis.- - - - - - - - - - ranking = 0.33333333333333keywords = phakomatosis (Clic here for more details about this article) |
10/18. optic nerve hypoplasia and the syndrome of nevus sebaceous of Jadassohn. A new association.The nevus sebaceous of Jadassohn (NSJ) syndrome is a not uncommon pediatric dermatosis, with malignant potential. It is the cutaneous manifestation of another phakomatosis, characterized by neurologic, ophthalmic, cardiovascular, skeletal, and urogenital involvement. The features of this syndrome overlap those of the oculo-auriculo-vertebral dysplasia of Goldenhar and tuberous sclerosis. The extent of system involvement suggests a developmental insult during the first few weeks of gestation. A clearly genetic basis has not been established. An infant with NSJ syndrome is described who had associated optic nerve hypoplasia. His clinical, pathologic, and radiologic findings, including computed tomography (CT) and magnetic resonance imaging, are presented.- - - - - - - - - - ranking = 0.33333333333333keywords = phakomatosis (Clic here for more details about this article) |
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