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Oculocutaneous Albinism

OCA


Presentation

  • The case is presented for its rarity, as an isolated orbital plexiform neurofibroma without the systemic features of neurofibromatosis is rare and its coincidental presentation with oculocutaneous albinism is yet rare and has not been reported so far.[ncbi.nlm.nih.gov]
  • Pigmentation present in the skin, hair and eyes can range from little or none to normal levels and findings of nystagmus, photophobia and reduced visual acuity can be present or absent.[orpha.net]
Chills
  • He denied associated chest pain, hemoptysis, fever, chills, or night sweats. He denied any new exposures or sick contacts in the recent past. A review of systems was significant for a history of epistaxis and frequent bruising.[ncbi.nlm.nih.gov]
Fever
  • He denied associated chest pain, hemoptysis, fever, chills, or night sweats. He denied any new exposures or sick contacts in the recent past. A review of systems was significant for a history of epistaxis and frequent bruising.[ncbi.nlm.nih.gov]
Prolonged Bleeding
  • A prolonged bleeding time, facioscapulohumeral muscular dystrophy, and Gilbert syndrome were also present. Superficial spreading melanoma with evidence of spontaneous regression on his right forearm was suspected as a possible primary site.[ncbi.nlm.nih.gov]
  • The Chediak-Higashi syndrome is a rare condition that includes an increased susceptibility to bacterial infections, hypopigmentation, prolonged bleeding time, easy bruisability, and peripheral neuropathy.[doi.org]
Pneumonia
  • Clinically this defect was associated with recurrent and severe respirator-dependent pneumonia of viral and bacterial origin.[ncbi.nlm.nih.gov]
Cough
  • Additionally, he had developed a nonproductive cough, exacerbated by cold weather. He denied associated chest pain, hemoptysis, fever, chills, or night sweats. He denied any new exposures or sick contacts in the recent past.[ncbi.nlm.nih.gov]
Dyspnea
  • A 29-year-old man with a history of oculocutaneous albinism presented to the ED complaining of progressive dyspnea on exertion.[ncbi.nlm.nih.gov]
Chest Pain
  • He denied associated chest pain, hemoptysis, fever, chills, or night sweats. He denied any new exposures or sick contacts in the recent past. A review of systems was significant for a history of epistaxis and frequent bruising.[ncbi.nlm.nih.gov]
Cutaneous Manifestation
  • In regions of the planet where solar exposure is extensive and sunscreen difficult to obtain, the malignant cutaneous manifestations of oculocutaneous albinism are life-shortening.[ncbi.nlm.nih.gov]
Night Sweats
  • He denied associated chest pain, hemoptysis, fever, chills, or night sweats. He denied any new exposures or sick contacts in the recent past. A review of systems was significant for a history of epistaxis and frequent bruising.[ncbi.nlm.nih.gov]
Cup-Shaped Ears
  • The patient had fair hair and complexion, bilateral anomalous wedge of scalp hair, upper eyebrow and eyelid deformities, cup-shaped ears, broad based nose with depressed bridge and midline groove, iris transillumination and diffuse hypopigmentation and[ncbi.nlm.nih.gov]
Brachydactyly
  • We describe the case of a 7-year-old girl with an apparently new genetic disorder characterized by oculocutaneous albinism, microcephaly, low-set helices, a prominent nose with a broad bridge, a long philtrum, a thin upper lip, a short neck, brachydactyly[ncbi.nlm.nih.gov]
Psychomotor Retardation
  • We present a case of oculocutaneous albinism in a child associating multiple malformations (preaxial polydactyly, small penis, cardiac malformation) and psychomotor retardation. To our knowledge, this association has not been previously described.[ncbi.nlm.nih.gov]
Short Neck
  • We describe the case of a 7-year-old girl with an apparently new genetic disorder characterized by oculocutaneous albinism, microcephaly, low-set helices, a prominent nose with a broad bridge, a long philtrum, a thin upper lip, a short neck, brachydactyly[ncbi.nlm.nih.gov]

Workup

  • Metastasis workup was negative. Complete surgical excision, strict photoprotection and regular follow-up were advised. A timely recognition of this potentially aggressive neoplasm is the key to curative treatment.[e-ijd.org]

Treatment

  • Current treatment options for individuals with OCA are limited to attempts to correct visual problems and counseling to promote use of sun protective measures.[ncbi.nlm.nih.gov]

Prognosis

  • Prognosis The disease is not life threatening and stabilizes after childhood. However, the medical and social consequences can have an impact on patient's daily life.[orpha.net]
  • […] tyrosine Genetics inheritance pattern autosomal recessive mutations type 1 chromosome 11 gene encoding tyrosinase type 2 chromosome 15 OCA2 gene encodes small molecule transporters involved in transport of tyrosinase Associated conditions skin cancer Prognosis[medbullets.com]
  • Prognosis Visual prognosis in patients with albinism is quite variable. Usually, no improvement in visual acuity occurs in patients with type I oculocutaneous albinism.[emedicine.com]
  • (Please describe) A specific molecular diagnosis can be helpful for prognosis, that is, as to degree of hypopigmentation and risk of visual impairment.[nature.com]

Etiology

  • We discuss the possible molecular etiology of albinism in regard to the mode of inheritance.[ncbi.nlm.nih.gov]
  • Etiology OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes.[orpha.net]
  • The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosine. Pigment Cell Res. 2002;15:217. Oetting WS, Gardner JM, Fryer JP, et al.[rarediseases.org]

Epidemiology

  • Summary Epidemiology OCA has an estimated prevalence of 1/17,000 worldwide. Clinical description The manifestations of OCA are highly variable depending on the specific subtype.[orpha.net]
  • OBJECTIVE: Based on our previous molecular epidemiological studies, we have implemented an optimized strategy for the genetic testing of Chinese OCA patients.[ncbi.nlm.nih.gov]
  • J Genet Disor Genet Rep 3:2. doi: 10.4172/2327-5790.1000117 Abstract Molecular Genetic Testing for Carrier- Prenatal Diagnosis and Computational Analysis of Oculocutaneous Albinism Type 1 In India epidemiological-communicable diseases are on the decline[scitechnol.com]
  • Epidemiology Frequency United States The frequency of type I (tyrosinase negative) oculocutaneous albinism is approximately 1 in 17,000 to 1 in 20,000. The frequency of type IB albinism appears to be higher among Amish people.[emedicine.com]
Sex distribution
Age distribution

Pathophysiology

  • “The pigmentary system: physiology and pathophysiology”. 2006. pp. 599-613.[clinicaladvisor.com]
  • In The Pigmentary System: Physiology and Pathophysiology, 2nd ed. Nordlund JJ, Boissy RE, Hearing VJ, King RA, Oetting WS, Ortonne J-P, eds. New York, NY: Oxford University Press; 2006:599-613. King RA Hearing VJ, Creel DJ, et al. Albinism.[rarediseases.org]
  • The pathophysiology of oculocutaneous albinism involves a reduction in the amount of melanin present in each of the melanosomes.[emedicine.com]

Prevention

  • Most TYR mutations eliminate the activity of tyrosinase, preventing melanocytes from producing any melanin throughout life. People with this form of albinism have white hair, light-coloured eyes and very pale skin.[ncbi.nlm.nih.gov]
  • Dark glasses are important to protect the eyes and prevent photophobia One concern that should not be overlooked is the risk of isolation in people with albinism.[pcds.org.uk]

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