Albinism

Classification of congenital diseases that result printrun hypopigmentation defect of melanin production by melanocytes dysfunction of the skin, eyes and / or ear consists of the following: oculocutanat albinism types 1, 2, 3, 4, ocular albinism, Chediak-Higashi syndrome, Hermansky-Pudlak syndrome Griscelli syndrome.
All races appear to be affected equally by these mutations. However, some types tend to be more frequent printer Africans. The incidence of albinism is equal for men and women. Hypopigmentation feature is evident at birth. With increasing age may develop a skin coloration, especially in people affected slightly. There is no treatment for the hypopigmentation of skin, hair and eyes. It is recommended to use sunscreen creams and clothing to prevent skin alterations induced by UV exposure.
Pathogenesis and causes
These conditions present a generalized or partial loss of skin and hair pigment. On this basis are mutations in genes that regulate the synthesis of melanin, the pigment distribution of melanosomes in melanocytes and Biogenesis.
Signs and symptoms
All these conditions are present from birth. Throughout life can improve skin pigmentation occurs. In Chediak-Higashi syndrome, respiratory infections can occur several days after birth. Recurrent respiratory infections and hemorrhagic diathesis worsens with age. Accelerated phase of disease manifests in the first decade of life. The Hermansky-Pudlak syndrome hemorrhagic diathesis may occur several days after birth. During the life of patients with this syndrome shows mild bleeding events, including bruising, epistaxis, gingival bleeding, prolonged bleeding at menstruation, after tooth extraction, postpartum and hemorrhagic colitis. The respiratory system is the first organ affected. Restrictive lung disease progresses slowly in some decades and then rapidly progresses. In Griscelli syndrome, immunodeficiency and neurological defects appear soon after birth.
Physical Exam
Oculocutanat albinism type 1 occurs with complete absence of pigment in skin, hair and eyes. However, some patients may experience moderate pigmentation, type 1B. all forms of the disease shows photophobia, reduced visual acuity and nystagmus. Oculocutanat albinism type 2 do not show complete absence of pigment occurs with a rest but moderate pigment in skin, hair and eyes. Many such patients can develop freckles, lentigo, nevi with age. Ocular manifestations are similar to type 1. Oculocutanat albinism type 3 occurs with a minimal reduction of the pigment in skin, hair and eyes. This form of albinism albinism was called Rufus or Brown. Ocular manifestations are similar to those of type 1, but not so severe. Oculocutanat albinism type 4 is manifested phenotypically similar to type 2. Ocular albinism are manifest and clear eye iris depigmentation. Patients have congenital motor nystagmus, reduced visual acuity, refractive errors, hypopigmentation tape, lack of foveal reflex and strabismus. Skin pigmentation is not evident. Hermansky-Pudlak syndrome is manifested by variable depigmentation of the skin, hair and eyes. Ophthalmic manifestations vary. Griscelli syndrome is manifest as a mild form of albinism-pale skin.
Complications albinism
Complications albinism oculocutanat combines visual alterations. Chediak syndrome involves bleeding complications, recurrent respiratory infections and neutropenia. In accelerated phase are fever, anemia, neutropenia, thrombocytopenia, hepatosplenomegaly, lymphadenopathy, and jaundice. Neurological problems include cranial and peripheral neuropathy, autonomic dysfunction, weakness and sensory deficits, loss of tendon reflexes, seizures. Long-term complications include pulmonary fibrosis syndrome Hermansky, granulomatous colitis, kidney insuficianta gingivitis.
Treatment
There is no treatment for the hypopigmentation of skin, hair and eyes. It is recommended to use a high SPF creams and protective clothing to prevent UV-induced skin disorders. Visual impairment can be alleviated by the use of contact lenses. Therapies are symptomatic. In cases of respiratory infections are given antibiotics. Bone marrow transplantation can correct the hematologic and immune defects. If bleeding is severe, blood transfusions are recommended administrearea. If granulomatous colitis or pulmonary fibrosis indicate extreme are corticosteroids. These patients should be screened for skin cancer.