1/44. 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 = focal (Clic here for more details about this article) |
2/44. 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 = 28274.082657123keywords = dermal hypoplasia, focal dermal hypoplasia, hypoplasia, focal (Clic here for more details about this article) |
3/44. Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.We describe a new syndrome of distal limb anomalies and pigmentary skin defects in 10 females of a large, four-generation pedigree. The family was ascertained through a 4-month-old infant girl with multiple anomalies, including hypertelorism, iris colobomas, low-set ears, midface hypoplasia, punched-out pigmentary abnormalities over the face and scalp, generalized brachydactyly, and digital fibromatosis. No affected males were identified in this pedigree. Affected females had a lower than normal male-to-female ratio of liveborn offspring, and some of them also had a history of several miscarriages. These findings, together with a significant variability in the phenotype of the affected females, suggest that this condition is inherited in an X-linked dominant fashion, with prenatal male lethality, and that X-inactivation plays an important role in the phenotypic expression of the disease. The syndrome has been described twice in the literature, but only in sporadic cases; it was therefore not recognized as a mendelian entity. Because the most consistent findings are anomalies of the distal skeleton of the limbs and localized pigmentary abnormalities of the skin, we named the syndrome "terminal osseous dysplasia with pigmentary defects." This condition, though rare, can be added to the small group of male lethal X-linked dominant disorders in humans.- - - - - - - - - - ranking = 27.686141343123keywords = hypoplasia (Clic here for more details about this article) |
4/44. septo-optic dysplasia in combination with a pigmented skin lesion: a case report with nosological discussion.In this case report a patient with bilateral optic nerve hypoplasia, schizencephaly and a pigmented skin lesion is described. The diagnosis of de Morsier syndrome or septo-optic dysplasia is put forward on the basis of the diagnosis of optic nerve hypoplasia. The differential diagnosis with Jadassohn's naevus phakomatosis is discussed. The importance of direct ophthalmoscopy of optic nerve abnormalities is stressed, as well as of magnetic resonance imaging, which has become a guideline in the classification of this syndrome.- - - - - - - - - - ranking = 55.372282686247keywords = hypoplasia (Clic here for more details about this article) |
5/44. 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 = 1keywords = focal (Clic here for more details about this article) |
6/44. 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 = 1keywords = focal (Clic here for more details about this article) |
7/44. 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 = 5keywords = focal (Clic here for more details about this article) |
8/44. Bilateral nephroblastoma in familial Hay-Wells syndrome associated with familial reticulate pigmentation of the skin.We report on a girl with maxillary hypoplasia, prominent ears, dry sparse hair, palmar and plantar keratoderma, dystrophic nails, patchy pigmented skin lesions in hands and feet and bilateral wilms tumor. She was born with bilateral ankyloblepharon. The mother and maternal grandmother presented similar ectodermal defects. Skin biopsies of the patient and her mother proved to contain cells overexpressing p63 by immunohistochemistry. Karyotypes of the patient and her mother, and FISH studies on lymphocytes and tumor cells of the girl demonstrated a mosaic 11p15.5 deletion. These findings suggest a relationship between familial ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome (Hay-Wells syndrome) and familial reticulate pigmentation of the skin. In addition the development of wilms tumor and 11p15.5 region involvement expand the genetic relationship between these conditions and the enlarging group of genetic entities related to nephroblastoma.- - - - - - - - - - ranking = 27.686141343123keywords = hypoplasia (Clic here for more details about this article) |
9/44. dyskeratosis congenita associated with three malignancies.dyskeratosis congenita is a rare inheritable disorder characterized by abnormalities of the skin, nails and oral mucosa. Aplastic anaemia resulting from bone marrow hypoplasia is a frequent cause of death. Squamous cell carcinoma developing from leukoplakia and visceral malignancies are other complications of the disease. We report here a case of dyskeratosis congenita in a man who developed three neoplasias of different systems over a period of many years. Squamous cell carcinoma and gastric adenocarcinoma manifested 17 years after the man was diagnosed with Hodgkin's disease.- - - - - - - - - - ranking = 27.686141343123keywords = hypoplasia (Clic here for more details about this article) |
10/44. Delineation of a newly recognized neurocutaneous malformation syndrome with "cutis tricolor".The term "cutis tricolor" describes the combination of congenital hyper- and hypo-pigmented lesions, in close proximity to each other with a background of normal skin. Cutis tricolor represents twin spotting and has been reported as an isolated skin disorder or as part of a neurocutaneous malformation syndrome. We report on an 11-year-old girl with diffuse pigmentary changes of the cutis tricolor type, facial anomalies, mental retardation, epileptic seizures, EEG anomalies, small skull, progressive double-curved thoracolumbar/lumbar scoliosis with vertebral scalloping and dysplastic vertebral pedicles and ribs, and tibial bowing. These abnormalities are similar to those observed in cases reported by Happle et al. [1997: J Med Genet 34:676-678] and Ruggieri [2000: Eur J Pediatr 159:745-749]. Additionally, our patient had altered behavior and hypoplasia of the corpus callosum. This constellation of abnormalities represents a newly recognized neurocutaneous malformation syndrome. The phenotype could be explained by somatic mutation. loss of heterozygosity at an early developmental stage would give rise to one single mosaic skin disorder (e.g., generalized skin manifestations of the cutis tricolor type in association to extracutaneous anomalies). Postzygotic recombination occurring later during embryogenesis would give rise to solitary lesions confined to the skin.- - - - - - - - - - ranking = 27.686141343123keywords = hypoplasia (Clic here for more details about this article) |
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