Oculocutaneous albinism in Infant/Neonate
The worldwide prevalence is estimated at 1:17,000. All patients with albinism have an increased risk of contracting skin cancers.
Albinism is currently classified as OCA types 1-7, as well as ocular albinism (OA), Chediak-Higashi syndrome (associated with platelet dysfunction with easy bruising and bleeding, a T-cell dysfunction associated with bacterial infections, cancer risks, and neurodegenerative disorders), and Hermansky-Pudlak syndrome (rare except in Puerto Rico; associated with platelet abnormalities and ceroid storage disease that leads to granulomatous colitis, pulmonary fibrosis, and other organ failures). The genes associated with OCA1-7 are listed below.
- OCA1: TYR – tyrosinase
- OCA2: OCA2 – P gene
- OCA3: TYRP1 – tyrosinase-related protein 1
- OCA4: SLC45A2 – solute carrier family 45 member 2
- OCA5: mapped to chromosome 4q24
- OCA6: SLC24A5 – solute carrier family 24 member 5
- OCA7: LRMDA – leucine-rich melanocyte differentiation associated
Pigmentary dilution of skin and hair occurs in all patients, but the degree of hypopigmentation varies with each type of albinism.
Ocular changes of OCA and OA include nystagmus, reduced visual acuity, strabismus, iris translucency, absent or reduced pigment of the retinal pigment epithelium, misrouting of the optic nerves, foveal hypoplasia, and photophobia.
E70.30 – Albinism, unspecified
15890002 – Albinism
- Chediak-Higashi syndrome
- Hermansky-Pudlak syndrome
- Ocular albinism
- Menkes kinky-hair syndrome
- Griscelli syndrome
- Waardenburg syndrome type 2 (albinism-deafness syndrome)
- Vici syndrome
- Tietz albinism-deafness syndrome
- Elejalde syndrome
- Prader-Willi and Angelman syndrome