Albinism

François, J.

doi:10.1159/000308802

Cited by 8 publications

(3 citation statements)

References 17 publications

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“…Oculocutaneous albinism is a group of autosomal recessive disorders characterized by significant genetic heterogeneity (15,26,37,54). It accounts for approximately 4% of all visually handicapped children.…”

Section: Discussionmentioning

confidence: 99%

Hermansky-Pudlak syndrome: albinism with lipofuscin storage

1981

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The Hermansky-Pudlak Syndrome, a "tyrosinase positive' form of oculocutaneous albinism, is a triad comprising albinism, a hemorrhagic diathesis and ceroid-lipofuscin storage. A pedigree is presented showing consanguinity with a pattern of pseudodominance. Electroretinography in two isolated Hermansky-Pudlak subjects was distinctly abnormal, showing decreased rod and cone responses (as well as abnormal flicker fusion responses) in one patient, and reduced photopic and scotopic responses in another. The decreased ERG responses are discussed with reference to the known retinal abnormalities in both generalized oculocutaneous albinism and Batten's disease, another ceroid-lipofuscin storage disorder.

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Section: Discussionmentioning

confidence: 99%

Hermansky-Pudlak syndrome: albinism with lipofuscin storage

1981

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“…Nigerian writers [2] reported 3.4% incidence of skin carcinoma among albinos in their series. The present brief review has shown an incidence of 1.4% among US blacks.…”

Section: Discussionmentioning

confidence: 97%

“…Yes! The reprint [2] that I received on albinism itself defined it as "the clinical manifestation of heritable metabolic defect in the melanocytes (pigment cells) of the eyes, hair and skin." It delineated three groups including cutaneous albinism.…”

Section: Introductionmentioning

confidence: 99%

Albinism Cancer Requires Worldwide Epidemiological Research

Ib¹

2015

Pigmentary Disorders

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Cancer of the skin, in general, is believed to be rather uncommon in black persons. Collected reports from the US showed that, out of 357 skin cancer cases, 5 (1.4%) were expressly stated to be albinos. A Nigerian comparable series of 435 patients manifested 15 (3.4%) albinos. Therefore, it is hypothesized that albinism is a good model for studies on skin adaptation as it concerns albinos in USA and in an indigenous people of Nigeria and elsewhere.

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Klinik der Innenohrschwerhörigkeiten

Lehnhardt

1984

Verhandlungsbericht 1984 Der Deutschen Gesellschaft Für Hals- Nasen- Ohren-Heilkunde, Kopf- Und Hals-Chirurgie

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Albinism

Cited by 8 publications

References 17 publications

Hermansky-Pudlak syndrome: albinism with lipofuscin storage

Hermansky-Pudlak syndrome: albinism with lipofuscin storage

Albinism Cancer Requires Worldwide Epidemiological Research

Klinik der Innenohrschwerhörigkeiten

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