1/59. 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 = 1keywords = seizure, focal (Clic here for more details about this article) |
2/59. Hypomelanosis of Ito.A two-year-old male child presented with bizarre hypopigmented skin lesions, severe mental retardation and generalized tonic-clonic seizures. Examination showed hypopigmented patterned whorls and irregular patches over the trunk and linear streaks over the flexor aspects of upper and lower limbs. He also had generalized hypertonia and brisk tendon reflexes. Other systems were normal.- - - - - - - - - - ranking = 0.92900311599401keywords = seizure (Clic here for more details about this article) |
3/59. Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations.Recurrent digital fibroma of infancy generally is considered a sporadic tumor of childhood. We describe the case of a mother with recurrent digital fibroma at a young age who gave birth to a daughter with focal dermal hypoplasia, coloboma of the iris and eyelids, anal atresia, and extensive limb malformations. When the infant was 3 months old, fibromas started to appear at the fingertips. The cases of three additional patients are described, with a similar combination of multiple digital fibromas, pigmented marks on the temporal region, and limb malformations. One of these patients has consanguineous parents. The clinical findings overlap partially with Gorlin-Goltz syndrome, which has been renamed by some authors "microphthalmia with linear skin defects" (MLS). Since the skin signs are clearly different, however-more like those of Setleis syndrome ("forceps mark" temporal dysplasia)-the patients described here seem to have a new combination of congenital malformations. Deletion of distal Xp, known to occur in some MLS patients, was not detected using cosmids in fluorescence in situ hybridization. This pattern of digital fibroma with congenital malformations seems to represent a new syndrome.- - - - - - - - - - ranking = 0.35498442002995keywords = focal (Clic here for more details about this article) |
4/59. Analphoid 3qter markers.Two cases of marker chromosomes derived from a non-centromeric location were studied to determine the characteristics of these markers with respect to the presence of functional centromeres and whether an associated phenotype could be described. The markers were characterized by fluorescence in situ hybridization and centromeric protein studies. Assessments were done to identify clinical features. Case 1 is a girl referred at age 1.5 years with swirly areas of hyperpigmentation, bilateral preauricular pits, hypotonia, developmental delay, and seizures. Case 2 is a male first evaluated as a newborn and then later during the first year of life. He had streaky hypopigmentation, right preauricular pit, accessory nipples, postaxial polydactyly, asymmetric cerebral ventricles, duplicated right kidney, a right pulmonary artery stenosis, and seizures. mosaicism for an extra marker from the 3qter region was present in both cases. Both markers had a constriction near one end and were C-band negative. Centromeric protein studies indicated absence of CENP-B, presence of CENP-C (data for case 1 only), and presence of CENP-E. Marker chromosomes were thus identified with a chromosomal origin far from their usual centromeric region and yet appeared to have functional centromeres. These two cases did not permit a specific clinical phenotype to be ascribed to the presence of tetrasomy for 3q26.2 approximately 3q27.2-->3qter.- - - - - - - - - - ranking = 1.858006231988keywords = seizure (Clic here for more details about this article) |
5/59. Sneddon's syndrome: a cause of cognitive decline in young adults.OBJECTIVE: To review the clinical, psychometric, laboratory, and radiologic findings of 6 patients with Sneddon's syndrome (SS) who presented with cognitive dysfunction rather than stroke. DESIGN AND methods: Case series. All patients fulfilled were diagnosed as SS based on the co-occurrence of livedo racemosa and neurologic disease. patients presenting with clinical stroke were excluded. RESULTS: patients presented with cognitive complaints at an early age and all noted skin lesions from 6 months to 10 years before onset of cognitive symptoms. Associated systemic disorders included hypertension and seizures. Laboratory evidence of a hypercoagulable condition was identified in 4 of 6 cases. brain MRI scans demonstrated atrophy, especially in parieto-occipital regions and cerebral blood flow on brain SPECT scan was reduced in a similar distribution. CONCLUSION: patients with SS can develop dementia without antecedent clinical stroke. While the specific pathogenic mechanism of dementia in SS remains speculative, the disease predominantly injures brain tissue in vascular "watershed" territories.- - - - - - - - - - ranking = 0.92900311599401keywords = seizure (Clic here for more details about this article) |
6/59. Acquired ciliary circumscribed grey hair (ACCG).Grey-haired areas usually occur due to aging or inheritance. A case is described of abrupt occurrence of a focal circumscribed grey-hair in the eyebrow region (a single hair) in a 27-year-old woman. The phenomenon was named acquired ciliary circumscribed grey-hair (ACCG). Qualitative and semiquantitative findings were obtained by microanalytical studies. In addition to morphological differences from control hair, the ACCG hair showed a high percentage of sulfur (99.8%) and absence of oligoelements.- - - - - - - - - - ranking = 0.070996884005991keywords = focal (Clic here for more details about this article) |
7/59. Congenital grouped pigmentation of the retina. Histopathologic description and report of a case.Gross examination of an eye removed at autopsy from a 4-year-old child with congenital heart disease revealed typical grouped pigmentation of the retina. Routine light microscopy and flat preparation of the retinal pigment epithelium demonstrated the lesions to consist of focal areas of increased concentration of pigment granules in otherwise normal retinal pigment epithelial cells. The pigment granules were large and football shaped. The overlying photoreceptors showed no abnormalities, possibly explaining the clinical features of normal visual acuity and visual fields in this patient. We believe that this is the first histologic description of congenital grouped pigmentation reported in the English literature. A differential diagnosis and brief review of the pertinent literature are also presented.- - - - - - - - - - ranking = 0.070996884005991keywords = focal (Clic here for more details about this article) |
8/59. Hereditary, focal, transgressive palmoplantar keratoderma with associated clinical findings: a new entity?We report on a 24-year-old male originating from yugoslavia with a focal, transgressive palmoplantar keratoderma presumably inherited as an autosomal recessive trait. Associated clinical findings were hyperkeratotic lichenoid papules on the knees and elbows, psoriasis-like lesions in the groins and on the scalp, a spotty or reticulate hyperpigmentation of the face, trunk and extremities and a partial alopecia of the left eyebrow and eyelashes. The patient's sister was affected by similar but less pronounced cutaneous changes. Although our case shares some similarities with other hereditary palmoplantar keratodermas there remain substantial differences. We therefore believe this case to represent a new entity.- - - - - - - - - - ranking = 0.35498442002995keywords = focal (Clic here for more details about this article) |
9/59. Linear and whorled naevoid hypermelanosis: a case with systemic involvement and trisomy 18 mosaicism.We describe a 20-year-old woman with trisomy 18 mosaicism, who presented with skeletal anomalies, epilepsy, mental retardation, and linear and whorled naevoid hypermelanosis.- - - - - - - - - - ranking = 2.739321544611keywords = epilepsy (Clic here for more details about this article) |
10/59. incontinentia pigmenti et achromians.A case is reported, apparently the first of its kind in the literature, of a female child in which there were not only pigmented lesions of incontinentia pigmenti but also hypopigmented lesions of incontinentia pigmenti achromians. The title incontinentia pigmenti et achromians is suggested for this combined disorder. The child also had associated lesions in the form of nail dystrophy, delayed dentition and epilepsy.- - - - - - - - - - ranking = 2.739321544611keywords = epilepsy (Clic here for more details about this article) |
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