1/9. Bilateral abortive cryptophthalmos associated with oculocutaneous albinism.PURPOSE: To document a case of bilateral abortive cryptophthalmos associated with oculocutaneous albinism. methods: We describe a 13-year-old female patient with blond skin and hair who had anomalous face and eyes first noted at birth. RESULTS: The patient had fair hair and complexion, bilateral anomalous wedge of scalp hair, upper eyebrow and eyelid deformities, cup-shaped ears, broad based nose with depressed bridge and midline groove, iris transillumination and diffuse hypopigmentation and foveal hypoplasia in fundus examination. CONCLUSION: Based on the clinical and laboratory findings, the reported case represents tyrosinase-positive oculocutaneous albinism together with bilateral abortive cryptophthalmos. The oculocutaneous albinism can either be an entirely new criterion to the whole syndrome of cryptophthalmos, or, more probably, the condition can be due to a double affliction which is primarily related with consanguinity of the parents. The importance of ante-natal diagnosis and genetic counseling are emphasized in such cases where the two recessive genes for two different conditions coexist.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
2/9. Localized vitiligo and frontoethmoidal meningoencephalocele.A child with frontoethmoidal meningoencephalocele in whom localized facial vitiligo developed after surgical correction of the encephalocele is presented. The potential role of the ocular disease accompanying the encephalocele in the development of the hypopigmentation is discussed.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
3/9. Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up.Galactosialidosis (GS) is an autosomal recessive condition caused by combined deficiency of the lysosomal enzymes beta-galactosidase and alpha-neuraminidase. The combined deficiency has been found to result from a defect in protective protein/cathepsin a (PPCA), an intralysosomal protein which protects these enzymes from premature proteolytic processing. The most severe form of GS, the early-infantile form, results in early onset of edema, ascites, visceromegaly, and skeletal dysplasia. We report a case of early-infantile GS in a male infant who presented with nonimmune fetal hydrops (NIH), "coarse" facial appearance, massive fluid-filled inguinal hernias, multiple telangiectasia, and diffuse hypopigmentation; he subsequently developed visceromegaly. The diagnosis of GS was confirmed biochemically and the defect in PPCA characterized at the protein level. Examination of fetal peripheral blood smears sampled at 30 weeks gestation demonstrated vacuolation of lymphocytes, suggesting blood film examination may be a useful screening tool for cases of NIH where a metabolic disorder is suspected. Skeletal radiography at birth demonstrated punctate epiphyses of the femora, calcanei, and sacrum. We present a discussion of and differential diagnosis for this radiographic finding. To the best of our knowledge, this is the first case of early-infantile GS presenting with stippled epiphyses.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
4/9. Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.BACKGROUND: Gillespie syndrome is a rare variant form of aniridia, characterized by mental retardation, nonprogressive cerebellar ataxia, and iris hypoplasia. Unlike the more common dominant and sporadic forms of aniridia, there have been no associated PAX6 mutations or Wilms' tumor reported in Gillespie syndrome patients. Ocular findings in 21 cases published since Gillespie's initial description in 1965 include iris and foveal hypoplasia, nystagmus, and small optic discs with pigmentary retinopathy. CASE REPORT: We herein report a case of atypical Gillespie syndrome associated with bilateral ptosis, exotropia, corectopia, iris hypoplasia, anterior capsular lens opacities, foveal hypoplasia, retinal vascular tortuosity, and retinal hypopigmentation. Neurologic evaluation revealed a mild hand tremor and learning disability, but no ataxia or cerebellar abnormalities on neuroimaging. Sequencing studies revealed a substitution in intron 2 of the PAX6 gene (IVS2 2T > A). To our knowledge, this is the first mutation of PAX6 gene reported in association with a Gillespie-like syndrome.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
5/9. The ocular changes of incontinentia pigmenti achromians (hypomelanosis of Ito).incontinentia pigmenti achromians is a multisystem hereditary disorder characterized specifically by a whorled or streaked cutaneous hypopigmentation and frequently characterized by numerous neurologic, musculoskeletal, and ocular abnormalities. We present a patient with incontinentia pigmenti achromians in whom the ocular abnormalities included the commonly reported exotropia, myopia, small optic nerve, and hypopigmentation of the fundus, as well as rarely reported corneal asymmetry, pannus, and atropic irides with irregular pupillary margins. The patient also had a cataract in the right eye and a retinal detachment in the left eye.- - - - - - - - - - ranking = 2keywords = hypopigmentation (Clic here for more details about this article) |
6/9. The oculocerebral syndrome in association with generalised hypopigmentation. A case report.A 14-year-old girl with generalised hypopigmentation, mental retardation, abnormal movements, and ocular anomalies is described. It is suggested that she represents a further case of oculocerebral albinism, a rare autosomal recessive condition. Reference is made to previous similar cases.- - - - - - - - - - ranking = 5keywords = hypopigmentation (Clic here for more details about this article) |
7/9. Congenital ocular defects associated with an abnormality of the human chromosome 1: trisomy 1q32-qter.This article describes the detailed ocular pathology found in a premature neonate, born at 34 weeks, with multiple congenital anomalies resulting from de novo trisomy 1q32-qter. The ocular defects include goniodysgenesis, persistent tunica vasculosa lentis and hyaloid vessels, hypopigmentation of the posterior iris epithelium, ectopia of the ciliary processes, and abnormal insertion of the ciliary muscle and cataract. This is the first report of the detailed ocular pathology in a case of trisomy 1q and is also unusual in that the chromosomal defect has apparently arisen de novo in the proband.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
8/9. Confirmation of the Yemenite (Warburg) deaf-blind hypopigmentation syndrome.The Yemenite deaf-blind hypopigmentation syndrome is a rare disorder characterized by severe early hearing loss, microcornea and colobomata, and cutaneous pigmentation abnormalities. A girl with similar skin symptoms and hearing loss, but no microcornea or colobomata is described and compared to other reported patients.- - - - - - - - - - ranking = 5keywords = hypopigmentation (Clic here for more details about this article) |
9/9. Hypomelanosis of Ito with unusual associations.Hypomelanosis of Ito (HOI) is a neurocutaneous disorder which clinically is a well-characterised disease, in which chromosomal instability may be a component. Various neurological and other non-cutaneous malformations have been reported in association with the characteristic swirling pattern of hypopigmentation. We report two cases of this rare condition, one with hitherto unreported associations.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |