History
The characteristic hypopigmentation of albinism is apparent at birth. An increase in the pigmentation of the skin and/or the hair may occur with age, especially in individuals who are mildly affected specifically with the non–oculocutaneous albinism type 1 subtypes.
In Chediak-Higashi syndrome, respiratory infections can occur within a few days of birth. Recurrent infections and bleeding diathesis increase with the age of the patient with Chediak-Higashi syndrome. The accelerated phase of Chediak-Higashi syndrome generally manifests by the first decade of life. [18, 19]
In Hermansky-Pudlak syndrome, the bleeding diathesis can occur within a few days of birth generally during circumcision. Throughout life, patients with Hermansky-Pudlak syndrome experience mild-to-moderate bleeding events, including bruising, epistaxis, gingival bleeding, prolonged bleeding during menstruation or after tooth extraction, postpartum hemorrhage, and bleeding colitis. The respiratory system is the primary organ system affected. Restrictive lung disease usually progresses slowly for the first few decades of life and then advances rapidly. The occurrence and the extent of other organ system dysfunctions are variable.
In Griscelli syndrome, the immunodeficiency or neurological defects can occur shortly after birth.
Physical Examination
Oculocutaneous albinism type 1 primarily manifests with complete absence of pigment in the skin, the hair, and the eyes, and this category is termed oculocutaneous albinism type 1A. [20] However, some patients can present with moderate pigmentation in these tissues (termed oculocutaneous albinism type 1B) or pigment in hair follicles of the cooler areas of the body, such as the arms and the legs (termed oculocutaneous albinism type 1TS, ie, temperature sensitive). All forms of oculocutaneous albinism type 1 also present with photophobia, moderate-to-severe reduced visual acuity, and nystagmus. The latter two ocular dysfunctions result from a misrouting of the optic fibers from the retina to the visual cortex of the brain.
Oculocutaneous albinism type 2 does not present with complete absence of pigment but rather manifests with a minimal-to-moderate amount of pigment remaining in the skin, the hair, and the eyes. Many patients with oculocutaneous albinism type 2 can develop pigmented freckles, lentigines, and/or nevi with age. The ocular presentations are similar to those in oculocutaneous albinism type 1.
Oculocutaneous albinism type 3 manifests with minimal pigment reduction in the skin, the hair, and the eyes. This form of albinism was previously referred to as Rufous albinism and possibly Brown albinism. Hair coloration of individuals with oculocutaneous albinism type 3 generally has a yellow or reddish hue. The reduction of cutaneous and ocular pigmentation may only be apparent in comparison with the complexion coloration of family members. The ocular presentations are similar to those in oculocutaneous albinism type 1, but they are not as severe.
Oculocutaneous albinism types 4, 5, 6, and 7 manifest with a phenotype resembling oculocutaneous albinism type 2. [21, 13]
Ocular albinism manifests with ocular depigmentation and iris translucency. In addition, patients with ocular albinism present with congenital motor nystagmus that may be accompanied by reduced visual acuity, refractive errors, fundus hypopigmentation, lack of foveal reflex, and strabismus. Cutaneous depigmentation is not apparent.
Chediak-Higashi syndrome manifests with moderate-to-complete absence of pigment in the skin, the hair, and the eyes. The hypopigmentation of the hair in Chediak-Higashi syndrome generally has a distinct silvery, metallic sheen. Respiratory tract infections frequently occur shortly after birth.
Hermansky-Pudlak syndrome manifests with a variable amount of depigmentation in the skin, the hair, and the eyes. Ophthalmic findings vary.
Griscelli syndrome manifests with a mild form of albinism (ie, pale skin). Distinctive in Griscelli syndrome is the presentation of silvery gray hair at birth.
Complications
Complications of oculocutaneous albinism type 1 include photophobia, severe-to-moderate reduced visual acuity, and nystagmus. The ocular complications in oculocutaneous albinism type 2, oculocutaneous albinism type 3, and oculocutaneous albinism type 4 are similar to those in oculocutaneous albinism type 1, but, in oculocutaneous albinism type 3, they are not as severe.
Complications of Chediak-Higashi syndrome include easy bruising, mucosal bleeding, epistaxis and petechiae, recurrent infections primarily involving the respiratory system, and neutropenia. In the accelerated phase, fever; anemia; neutropenia; and, occasionally, thrombocytopenia, hepatosplenomegaly, lymphadenopathy, and jaundice may occur. Neurologic problems in Chediak-Higashi syndrome may include a peripheral and cranial neuropathy, autonomic dysfunction, weakness and sensory deficits, loss of deep tendon reflexes, clumsiness with a wide-based gait, seizures, and decreased motor nerve conduction velocities.
Long-term complications of Hermansky-Pudlak syndrome include pulmonary fibrosis, granulomatous colitis, gingivitis, and kidney failure.
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Infant with oculocutaneous albinism type 1 presenting with hypomelanotic skin, white hair, and pink irides and pupils resulting from the dysfunction of tyrosinase in the melanocytes of these tissues and the subsequent lack of melanin synthesis. From Carden et al, Br J Ophthal, 1998, 82:189-195, with permission from BMJ Publishing Group.
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Neonate with oculocutaneous albinism type 3 presenting with minimally pigmented skin and light hair coloration resulting from the dysfunction of tyrosinase-related protein-1 in the melanocytes of these tissues and the subsequent reduction in melanin synthesis. The infant's parents are African American. From Carden et al, Br J Ophthal, 1998, 82:189-195, with permission from BMJ Publishing Group.
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Infant with Chediak-Higashi syndrome presenting with hypomelanotic skin and white hair with a metallic sheen. From Carden et al, Br J Ophthal, 1998, 82:189-195, with permission from BMJ Publishing Group.
