21/54. The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome.We have seen a Yemenite sister and brother with cutaneous hypomelanotic and pigmented spots and patches, microcornea, coloboma, severe hearing loss and normal karyotypes. Histopathological examinations of the skin showed absent melanocytes in the depigmented areas; in the normal and hyperpigmented skin there was abundant melanotic pigment. Similar patients have not been described previously, but there are corresponding mutations in mice and rats.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
22/54. genetic heterogeneity in tuberous sclerosis: phenotypic correlations.There is increasing evidence for genetic heterogeneity in tuberous sclerosis (TSC) on the basis of linkage analysis in affected kindreds. We have performed a detailed assessment of an affected South African family in which there is no evidence of linkage to chromosome 9 markers. The affected persons have atypical clinical features, namely prominent nuchal skin tags, a confetti pattern of hypopigmentation of the skin of the lower legs, and absence of ungual fibromata. Further investigation of these unusual phenotypic features is warranted in order to determine whether these lesions are consistently present in families in whom the gene for TSC is not on 9q34. We conclude that confetti depigmentation and nuchal skin tags may be clinical pointers to an alternative locus for TSC.- - - - - - - - - - ranking = 0.25keywords = hypopigmentation (Clic here for more details about this article) |
23/54. A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians).A case is described which, at birth, had a bizarre pattern of hypopigmentation (incontinentia pigmenti achromians), ectrodactyly involving all four extremities, and unilateral cleft lip and palate. This patient does not have the seizures or other neurological and developmental anomalies previously described as associated with hypopigmentation of Ito. This condition is also clearly different from the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC).- - - - - - - - - - ranking = 0.5keywords = hypopigmentation (Clic here for more details about this article) |
24/54. Perilesional linear atrophy and hypopigmentation after intralesional corticosteroid therapy. Report of two cases and review of the literature.We report on the cases of two patients in whom linear perilesional hypopigmentation and atrophy developed after intralesional injection of corticosteroids for treatment of keloids. Evaluation of our patients and the previously reported cases showed that perilesional linear atrophy or hypopigmentation (or both) is a distinct complication after intralesional or intraarticular administration of corticosteroids and is probably due to lymphogenous spread of the steroid suspension.- - - - - - - - - - ranking = 1.5keywords = hypopigmentation (Clic here for more details about this article) |
25/54. infant with abnormal pigmentation, malformations, and immune deficiency.An infant had swirling hyperpigmentation, streaks of hypopigmentation, abnormal T-cell function, cleft palate, patent ductus arteriosus, and arrhinencephaly. This pattern of abnormalities is distinct from other disorders with abnormal pigmentation and malformations; such as incontinentia pigmenti, incontinentia pigmenti achromians, and the epidermal nevus syndrome.- - - - - - - - - - ranking = 0.25keywords = hypopigmentation (Clic here for more details about this article) |
26/54. An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings.A 4 year old boy is reported with tyrosinase positive hypopigmentation, mental retardation, ataxia, and myopia. Radiological investigation showed occipital cerebral atrophy, coxa valga, and generalised osteoporosis. The skin histology and electron microscopy are reported and discussed. The clinical features are similar to those of the oculocerebral hypopigmentation syndrome described by Preus et al.- - - - - - - - - - ranking = 1.5keywords = hypopigmentation (Clic here for more details about this article) |
27/54. piebaldism-waardenburg syndrome: histopathologic evidence for a neural crest syndrome.piebaldism, an autosomal dominant trait, is characterized by patchy hypopigmentation of the face, anterior chest, abdomen, and limbs, heterochromia/bicolored irises, congenital megacolon, and deafness. A 4-month-old Inuit (Eskimo) boy with these manifestations also had left pulmonic artery stenosis, ocular ptosis, and unilateral duplication of the renal collecting system. Evidence is presented for both qualitative and quantitative derangement of neural crest derivatives in this syndrome. Histologically, hypoganglionosis, hyperganglionosis, and ectopic ganglia in lamina propria (neuronal colonic dysplasia [NCD]) were documented in the rectum. The appendix, proximal to the clinical transition zone, showed similar dysplasia. In the hypopigmented skin, multiple microscopic sections were devoid of melanocytes, with no melanin in adjacent basal cells. The hyperpigmented skin contained melanin throughout the basal layer, but the melanocytes were unevenly distributed. Most tissues affected in this boy are of neural crest origin; pathogenesis could be due to faulty migration along the established pathways involving either the borders (basal laminae) or the components of the extracellular matrix (fibronectin, cytotactin, laminin, glycosaminoglycans, and collagen). The similarities between piebaldism and the Waardenburg syndromes are discussed.- - - - - - - - - - ranking = 0.25keywords = hypopigmentation (Clic here for more details about this article) |
28/54. Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.We describe 2 brothers with a malformation syndrome consisting of agenesis of the corpus callosum, cutaneous hypopigmentation, bilateral cataract, cleft lip and palate, and combined immunodeficiency. The clinical history of both patients was characterized by severe psychomotor retardation, seizures, recurrent severe respiratory infections, and chronic mucocutaneous candidiasis. The children died of bronchopneumonia at age 2 and 3 years, respectively. Immunological investigations showed, in one sib studied, skin anergy to recall antigens, profound depletion of T4 lymphocytes, and serum IgG2 deficiency. Necropsy showed agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, and profound hypoplasia of the thymus and of the peripheral lymphoid tissue. The distinctive features of these sibs appear to define a previously undescribed hereditary MCA/MR syndrome. The clinical and pathological findings seem to indicate, as a pathogenetic mechanism, a defect involving the embryonic organization of the central nervous system and of the immune system.- - - - - - - - - - ranking = 1.25keywords = hypopigmentation (Clic here for more details about this article) |
29/54. Ocular involvement in histidinaemia.Two patients, a brother and sister, presenting with reduced visual acuity, nystagmus, hypopigmentation of the maculae, head nodding, dysarthria and other neuromuscular incoordinations are reported. They were found to be suffering from histidinaemia by aminoacid analysis of urine.- - - - - - - - - - ranking = 0.25keywords = hypopigmentation (Clic here for more details about this article) |
30/54. Hypomelanosis of Ito. wood's light and magnetic resonance imaging as diagnostic measures.Hypomelanosis of Ito is an uncommonly reported neurocutaneous syndrome with a peculiar pattern of swirling hypopigmentation. The skin markings in the lightly pigmented individual are not easily visualized in regular light but can be readily seen with the use of wood's light. We describe a 7-month-old female infant with this disorder who presented with intractable convulsions. Computed tomography showed enlargement of the left cerebral hemisphere but was otherwise not definitive. Abnormalities of neuronal migration were demonstrated with magnetic resonance imaging that could not be shown by computed tomography.- - - - - - - - - - ranking = 0.25keywords = hypopigmentation (Clic here for more details about this article) |
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