Results 31 to 40 of about 7,886 (197)

Amelanotic melanoma in a patient with oculocutaneous albinism [PDF]

, 2020
Oculocutaneous albinism is a genetically heterogeneous, autosomal recessive group of disorders characterized by a generalized decreased or absence of melanin pigment in the eyes, hair, and skin.
Aguado Garcia, A, Valtueña, J, Ruiz-Sanchez, D, Garabito Solovera, EL, Martinez Garcia, G, Garayar Cantero, M, Manchado Lopez, P, G Martinez Garcia, J Valtueña, A Aguado Garcia, EL Garabito Solovera, D Ruiz-Sanchez, Ruiz-Sanchez, D ; Garabito Solovera, EL ; Valtueña, J ; Aguado Garcia, A ; Garayar Cantero, M ; Martinez Garcia, G ; Manchado Lopez, P, P Manchado Lopez, M Garayar Cantero   +14 more
core   +1 more source

Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives [PDF]

, 2022
Albinism describes a heterogeneous group of genetically determined disorders characterized by disrupted synthesis of melanin and a range of developmental ocular abnormalities.
Padhi, Tapas Ranjan, Ramamurthy, Srishti, Padhy, Srikanta Kumar, CP, Deepika, Padhy, SK, Neveu, MM, Padhi, TR, Ramamurthy, S, Takkar, B, Jalali, S, Deepika, CP, Robson, Anthony G, Robson, AG, Neveu, Magella M, Takkar, Brijesh, Jalali, Subhadra, Subhadra Jalali, Anthony G Robson, Srikanta Kumar Padhy, Tapas Ranjan Padhi, Srishti Ramamurthy, Deepika CP, Brijesh Takkar, Magella M Neveu   +23 more
core   +2 more sources

Oculocutaneous Albinism

Journal of Bharatpur Hospital
Oculocutaneous albinism (OCA) is a group of inherited autosomal recessive disorders characterized by reduced or absent melanin production, affecting pigmentation in the skin, hair, and eyes. This leads to significant visual impairments, including foveal hypoplasia (underdevelopment of the central retina), nystagmus (involuntary eye movements), and ...
Shristi Phauja, Reeya Shah, Pragya Singh, Sarita Bhattarai, Anju Shrestha   +4 more
  +7 more sources

Oculocutaneous Albinism [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2017
Review on Oculocutaneous ...
Ray, Kunal, Sengupta, Mainak, Ganguly, Kausik   +2 more
openaire   +2 more sources

Eccrine porocarcinoma with squamous differentiation in a patient with oculocutaneous albinism

Indian Dermatology Online Journal, 2020
Eccrine porocarcinoma is a rare malignant skin appendage tumor of sweat gland origin. Eccrine porocarcinoma arising in a patient of oculocutaneous albinism is extremely rare and only two cases have been reported in English literature to the best of our ...
Biswajit Dey, Vandana Raphael, Caleb Harris   +2 more
doaj   +1 more source

Resistant schizophrenia in a patient with oculocutaneous albinism successfully treated with clozapine

European Psychiatry, 2022
Introduction Several studies have shown an association between oculocutaneous albinism and several neuropsychiatric entities, including schizophrenia.
A. Jelti, F. N’Sabi, F. Kennab, M. Barrimi   +3 more
doaj   +1 more source

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Orphanet Journal of Rare Diseases, 2019
Background Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with ...
Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico   +11 more
doaj   +1 more source

Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma. [PDF]

Pigment Cell Melanoma Res
Individuals with childhood and adolescent melanoma carry inherited mutations in shelterin complex genes, pigmentation genes and MBD4, but have fewer MC1R R‐alleles than adults with melanoma. Created with BioRender.com. ABSTRACT Cutaneous melanoma is a complex disease influenced by both environmental and genetic factors. Inherited susceptibility plays a
Johansson PA, Palmer JM, Bui-Raborn LT, Xu M, Jones KM, Higson H, Liu J, Brooks KM, Pritchard AL, Hayward NK, Brown KM.   +10 more
europepmc   +2 more sources

The Coexistence of Oculocutaneous Albinism with Schizophrenia [PDF]

Cureus, 2020
Oculocutaneous albinism (OCA) is an extremely rare skin disorder which occurs in 0.005% of the world population, whereas schizophrenia is a rare mental illness which affects 1% of the world population. Researchers have spent much time searching for the causes of schizophrenia, as they are still largely unknown.
Tsai, Alicia L, Agustines, Davin
openaire   +2 more sources

Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family [PDF]

Iranian Journal of Public Health, 2010
Background: Oculocutaneous albinism type1 (OCA1) is characterized by the absence of melanin pigmentation. The muta­tion on TYR gene makes OCA1 as an autosomal recessive genetic disorder.
H Pour-Jafari , A Zamanian , B Pour-Jafari   +2 more
doaj   +1 more source