1/8. Cutaneous malignancy in albinism.albinism is a disorder of hypopigmentation affecting the skin, appendages, and eyes. Ultraviolet light-induced cutaneous tumors are common in patients with albinism due to reduced or absent protection from melanin. Squamous cell carcinoma (SCC) is the number one skin tumor seen in patients who are albinos. Although nonmelanomatous skin cancers are more common in patients with albinism, dysplastic nevus and melanoma present a greater diagnostic challenge in this group because of their hypopigmented appearance. We report 2 cases of cutaneous malignancies in patients who had oculocutaneous albinism (OCA). The first case involves a 45-year-old man with OCA type 2 (OCA2) who developed a large SCC of the neck. The second case involves a 24-year-old man with Hermansky-Pudiak syndrome (HPS) who developed amelanotic melanoma. In both cases, hypopigmentation of the lesions contributed to a delay in diagnosis. We review the clinical, diagnostic, and therapeutic concerns for patients with albinism who have cutaneous malignancies.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
2/8. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah-waardenburg syndrome, comprising sensorineural deafness; hypopigmentation of skin, hair, and irides; and HSCR. Therefore, we screened dna of the index patient of the ABCD syndrome family for mutations in the endothelin B receptor (EDNRB) gene, a gene known to be involved in Shah-waardenburg syndrome. A homozygous nonsense mutation in exon 3 (R201X) of the EDNRB gene was found. We therefore suggest that ABCD syndrome is not a separate entity, but an expression of Shah-waardenburg syndrome.- - - - - - - - - - ranking = 0.5keywords = hypopigmentation (Clic here for more details about this article) |
3/8. Oculocutaneous albinism: variable expressivity of nystagmus in a sibship.Traditionally, the diagnosis of ocular or oculocutaneous albinism (OCA) is based on a constellation of features including the presence of nystagmus associated with iris transillumination defects, hypopigmentation of the fundus, and hypoplasia of the fovea and optic nerve head. Nystagmus is the most frequent ocular sign for the ascertainment of albinism particularly in individuals who have lightly-pigmented parents. We report two siblings, a male and female, with minimal, if any, pigmentation of skin and hair, iris transillumination defects, blond fundi, and hypoplasia of the foveae and optic nerve heads who were discordant for nystagmus; the diagnosis of OCA was based on the clinical findings. These siblings presumably have the same genetic hypopigmentation defect and demonstrate that nystagmus is not a consistent finding in OCA and may not be an absolute criterion for diagnosis.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
4/8. Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.glycerol kinase deficiency (GKD) has been described in isolation and in complex phenotypes including either congenital adrenal hypoplasia, Duchenne muscular dystrophy, or both. Cytogenetic and molecular studies have localized these defects to a deletion involving the x chromosome at band Xp21, consistent with its X-linked recessive pattern of inheritance. Other clinical findings in the complex glycerol kinase deficiency (CGKD) patients are mental retardation, short stature, and hypogonadotropic hypogonadism. We report on a 6-year-old boy who, in addition to the CGKD phenotype described above, had ocular hypopigmentation consistent with Forsius-Eriksson ocular albinism, also known as type 2 ocular albinism or Aland Island eye disease. cytogenetic analysis shows an interstitial deletion in the short arm of the X-chromosome at Xp21.- - - - - - - - - - ranking = 0.5keywords = hypopigmentation (Clic here for more details about this article) |
5/8. 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 = 2.5keywords = hypopigmentation (Clic here for more details about this article) |
6/8. Oculocerebral hypopigmentation syndrome (Cross syndrome) in a Gipsy child.A boy aged 2 years, born prematurely to Gipsy parents, presented with hypopigmentation severe encephalopathy with athetoid movements, bilateral ocular anomalies including cloudy corneas, iris atrophy and cataracts, as well as dental defects. Ultrastructural examination of the skin disclosed scare melanosomes. Although the neurologic and ocular anomalies might have been accounted for by his extreme prematurity, their association with hypomelanogenesis and dental defects support, in this patient the diagnosis of the oculocerebral hypopigmentation syndrome (Cross syndrome).- - - - - - - - - - ranking = 3keywords = hypopigmentation (Clic here for more details about this article) |
7/8. Oculocerebral syndrome with hypopigmentation (Cross syndrome). Report of two siblings born to consanguineous parents.In this report we describe two siblings, a 17-year-old male and his deceased sister, born to consanguineous parents, and presenting an oculocerebral syndrome with hypopigmentation as first delineated by Cross in 1967. In addition to the cutaneous hypopigmentation, both presented deep mental retardation and spastic tetraplegia with athetoid movements. A remarkable finding in this family is that a third sibling, an otherwise normal 23-year-old male, presents the same hypopigmentation with white-grey hair colour as his two severely affected siblings.- - - - - - - - - - ranking = 3.5keywords = hypopigmentation (Clic here for more details about this article) |
8/8. Oculocutaneous albinism associated with Apert's syndrome.Five of nine patients with Apert's syndrome (acrocephalosyndactyly) showed an associated hypopigmentation of hair, skin, and eyes. The hair color of these five patients ranged from light brown to blond, the skin was pale, and the irides hazel or blue. iris transillumination and hypopigmentation of the fundus were present and associated with absent or diffuse foveal reflexes. Unlike most forms of classic oculocutaneous albinism, however, there was good visual acuity and no pendular nystagmus. The evidence indicated that the lack of pigmentation associated with the characteristic skeletal anomalies of Apert's syndrome resulted from a disturbance of independent, genetically related, processes occurring at a common point in gestation.- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |