Hypopigmentation
Mostrando 13-24 de 33 artigos, teses e dissertações.
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13. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)
Griscelli syndrome (GS) is a rare autosomal recessive disorder that associates hypopigmentation, characterized by a silver-gray sheen of the hair and the presence of large clusters of pigment in the hair shaft, and the occurrence of either a primary neurological impairment or a severe immune disorder. Two different genetic forms, GS1 and GS2, respectively, a
American Society for Clinical Investigation.
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14. Vitiligo and disorders of the retinal pigment epithelium.
The association of vitiligo with inflammation of the uveal tract is well established. The relationship between vitiligo and hypopigmentation and/or degeneration of the retinal pigment epithelium (RPE) not secondary to ocular inflammation has not been adequately investigated. Sixty (27%) of 223 consecutive patients with vitiligo were found to have some eviden
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15. Waardenburg-like features with cataracts, small head size, joint abnormalities, hypogonadism, and osteosarcoma.
A 32-year-old black man was observed with osteosarcoma and multiple anomalies including deafness, hypopigmentation, cataracts, small head size, hypogonadism, and restricted joint mobility. The birth defects may comprise a new syndrome or combination of syndromes, of which the malignancy may be a part.
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16. Familial spinocerebellar ataxia with skin hyperpigmentation.
Previous reports have shown the association between familial spastic paraplegia and hypopigmentation of the skin. A family is reported in which three siblings presented with progressive spastic paraparesis and cerebellar ataxia. All the siblings had large hyperpigmented naevi of the lower extremities while none of the unaffected members had a skin lesion. A
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17. "Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting?
An uncommon coexistence of circumscribed hyperpigmentation and hypopigmentation, in close proximity to each other, is described in a 17 years old patient with various other cogenital defects, such as dysmorphic facial appearance, severe kyphoscoliosis, delayed motor development, epileptic seizures, and mental retardation. We suggest the combination of hyper-
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18. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.
Type I oculocutaneous albinism (OCA) is an autosomal recessive disorder in which deficient synthesis of melanin pigment results from abnormal activity of melanocyte tyrosinase. A novel type I OCA phenotype in which hypopigmentation is related to local body temperature is associated with a missense substitution in tyrosinase, codon 422 CGG (Arg)----CAG (Gln).
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19. 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 sk
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20. Calcium binding in pigmented and albino eyes.
The localization of calcium binding sites in eyes was determined autoradiographically after extracting endogenous Ca from tissue sections and replacing it with 45Ca. The strongest labeling was associated with pigmented tissues due to the high concentration of melanin, which was shown to bind Ca effectively and in a pH-dependent fashion. The second strongest
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21. Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe.
The term oculocutaneous albinism (OCA) covers a range of autosomal recessive genetic conditions involving hypopigmentation of the skin, hair, and eyes. In southern African black ethnic groups the tyrosinase positive form, OCA2, is predominant, with few cases of tyrosinase negative OCA1. The prevalence of OCA2 in schoolchildren in Harare, the capital city of
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22. The metallochaperone Atox1 plays a critical role in perinatal copper homeostasis
Copper plays a fundamental role in the biochemistry of all aerobic organisms. The delivery of this metal to specific intracellular targets is mediated by metallochaperones. To elucidate the role of the metallochaperone Atox1, we analyzed mice with a disruption of the Atox1 locus. Atox1−/− mice failed to thrive immediately after birth, with 45% of pu
The National Academy of Sciences.
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23. Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.
The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse phenotypes such as short stature (SS), chondrodysplasia punctata (CDPX), mental retardation (MRX), ichthyosis (XLI), and Kallmann syndrome (KAL). We describe the clinical symptoms of a patient with a comple
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24. The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes.
Ocular albinism type 1 (OA1) is an inherited disorder characterized by severe reduction of visual acuity, photophobia, and retinal hypopigmentation. Ultrastructural examination of skin melanocytes and of the retinal pigment epithelium reveals the presence of macromelanosomes, suggesting a defect in melanosome biogenesis. The gene responsible for OA1 is exclu