What is oculocutaneous albinism?
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair.
Alternate Names : Oculocutaneous albinism, Ocular albinism, Hermansky-Pudlak syndrome
Definition
Albinism is a defect of melanin production that results in little or no color (pigment) in the skin, hair, and eyes.
Oculocutaneous albinism 1 is caused by a mutation in a gene on chromosome 11. Most people with this type of albinism have milky white skin, white hair and blue eyes at birth.
Oculocutaneous albinism
Two types of oculocutaneous albinism are known to be associated with increased risk of SCC of the skin.
Oculocutaneous albinism
Type 1-complete absence of pigment. Skin, hair, and eyes lack all pigment from birth. Freckles or moles will not appear at any time during their lifetimes.
Oculocutaneous albinism is a group of rare inherited disorders characterized by a reduced amount or complete lack of melanin pigment in the skin, hair, and eyes.
Oculocutaneous albinism results from an autosomal recessive trait; ocular albinism results from an X-linked recessive trait that causes hypopigmentation only in the iris and the ocular fundus.
Oculocutaneous albinism; Ocular albinism; Hermansky-Pudlak syndrome
Causes ...
Oculocutaneous albinism is inherited in an autosomal recessive pattern. Two mutations are required before the disease is expressed and these are contributed by the normally pigmented parents.
Oculocutaneous albinism
Disorders of Branched-Chain Amino Acid Metabolism
Maple syrup urine disease ...
In oculocutaneous albinism, not only the eyes but also the skin and hair are very light. Skin can appear white. Hair is blonde, or sometimes red. Vision conditions such as those associated with ocular albinism can be present.
A form of oculocutaneous albinism (autosomal recessive) with accumulation of ceroid in lysosomes with restrictive lung disease, granulomatous colitis, kidney failure, cardiomyopathy, and storage pool-deficient platelets.
Medical: Oculocutaneous Albinism
OCA1 gene associated with albinism ...
Oculocutaneous albinism
Oculoglandular syndrome
Oculomotor palsy
Ogilvie's syndrome
Ohio River Valley fever
Oligodendroglioma - adults
Oligodendroglioma - children
Olivopontocerebellar atrophy
Olivopontocerebellar degeneration
OME ...
The most common type of albinism is oculocutaneous albinism, which affects the eyes, hair, and skin. In its most severe form, hair and skin remain completely white throughout life.
If just one parent has the gene and the other parent has a normal pigment gene, their children won't have oculocutaneous albinism. But each child will have a one in two chance of being a "carrier" of an albinism gene.
oculocutaneous albinism type 1B
Oculocutaneous Albinism, Chediak-Higashi Type
Oculodentodigital Dysplasia
Oculomandibulodyscephaly with hypotrichosis
Oculomandibulofacial syndrome
oculomotor apraxia, Cogan type
Oculosympathetic Palsy ...
Albinism: Persons with classic oculocutaneous albinism lack melanin in their skin and eyes -- hence, the term "oculocutaneous" ("oculo" for eyes, and "cutaneous" for skin).
In the most severe form of albinism (called oculocutaneous albinism), those affected appear to have hair, skin, and iris color that are white or pink as well as vision defects. This is inherited via an autosomal recessive process.
Related Articles Ophthalmic features of minimal pigment oculocutaneous albinism.… more…
Minimal Pigment: A New Type of…
By King RA, Wirtschafter JD, Olds DP, Brumbaugh J ...
(Hypopigmentation; Oculocutaneous Albinism; Ocular Albinism)
by Rick Alan
Definition ...
Ubiquitin protein ligase E3A (UBE3A)
Chromosome 15
Oculocutaneous albinism II (OCA2)
Prader-Willi Syndrome
Methyl CpG binding protein 2 (MECP2) ...
Inbred Strain Rats, Infants, Low-Birth-Weight, Inhibitors, Carbonic Anhydrase, Injuries, Birth, Intestinal Heptacosapeptide, Porcine, Lactobacillaceae, Moods, Neural Leprosy, Neuropathy, A-alphalipoprotein, Nuclear Medicine, Oculocutaneous Albinism, ...
 See also: Albinism, Cancer, Symptom, Autosomal recessive, Skin Cancer
  
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