Albinism Flashcards
What is Oculocutaneous Albinism (OCA)?
Oculocutaneous Albinism is a group of genetic disorders characterized by a reduction or complete lack of melanin pigment in the skin, hair, and eyes due to mutations affecting melanin production.
What causes Oculocutaneous Albinism?
Oculocutaneous Albinism is caused by mutations in genes responsible for melanin production, such as TYR, OCA2, TYRP1, and SLC45A2. These mutations result in decreased or absent melanin synthesis.
What are the main types of Oculocutaneous Albinism?
The main types include OCA1 (caused by mutations in the TYR gene), OCA2 (OCA2 gene), OCA3 (TYRP1 gene), and OCA4 (SLC45A2 gene). Each type varies in severity and specific pigmentation.
What are the key symptoms of Oculocutaneous Albinism?
Symptoms include light skin that may burn easily, white or light-colored hair, light blue to brown eyes, vision problems such as nystagmus, photophobia, and reduced visual acuity.
What are the ocular complications associated with Oculocutaneous Albinism?
Complications include nystagmus (involuntary eye movements), strabismus (misalignment of the eyes), photophobia (sensitivity to light), and reduced visual acuity due to abnormal development of the retina and optic nerve pathways.
How is Oculocutaneous Albinism diagnosed?
Diagnosis is based on clinical examination, family history, and genetic testing to identify mutations in the relevant genes.
What is the management for Oculocutaneous Albinism?
Management includes regular skin examinations to monitor for skin cancer, using sun protection (sunscreen, clothing), visual aids, and low vision services to address ocular issues. Genetic counseling is also important for affected families.
What preventive measures are important for individuals with Oculocutaneous Albinism?
Preventive measures include rigorous sun protection, routine dermatologic checks, and wearing UV-protective eyewear to protect the eyes from damage.
What social support is necessary for individuals with Oculocutaneous Albinism?
Social support includes addressing potential stigmatization, providing educational support for visual impairments, and fostering awareness to reduce discrimination and ensure social integration.
What is Actinic Cheilitis?
ctinic Cheilitis is a precancerous condition characterized by chronic inflammation and damage to the lips, particularly the lower lip, due to prolonged exposure to ultraviolet (UV) radiation.
What are the common symptoms of Actinic Cheilitis?
ymptoms include persistent dryness, cracking, scaly patches, redness, loss of the distinct border between the lip and skin, and sometimes the development of ulcers or white plaques on the lip.
What are the treatment options for Actinic Cheilitis?
Treatment options include topical treatments (such as 5-fluorouracil or imiquimod), cryotherapy, laser therapy, or surgical excision of affected tissue. Lip protection and sun avoidance are also essential
What is Basal Cell Carcinoma?
Basal Cell Carcinoma is a type of skin cancer that arises from the basal cells in the epidermis. It is characterized by slow growth, rounded and translucent edges, and can become crusted and ulcerated.
What are the key features of Basal Cell Carcinoma?
Key features include slow growth, rounded edges, translucent borders, and the potential to become crusted and ulcerated.
What is Squamous Cell Carcinoma?
Squamous Cell Carcinoma is a type of skin cancer that originates from the prickle cell layers of the epidermis. It is typically fast-growing and can be life-threatening if it becomes advanced.
How does Squamous Cell Carcinoma develop?
Squamous Cell Carcinoma often develops from precancerous lesions known as Actinic Keratoses, which are caused by chronic sun exposure.
What are Actinic Keratoses?
Actinic Keratoses are rough, scaly patches on the skin caused by chronic exposure to ultraviolet (UV) light. They are considered precancerous and can develop into Squamous Cell Carcinoma.
What are Actinic (Solar) Keratoses?
Actinic (Solar) Keratoses are precancerous lesions that appear as erythematous, rough, hyperkeratotic, and often itchy patches, typically on UV-exposed areas of the skin. They are more easily felt than seen and can be grey, brown, or reddish.
Where do Actinic Keratoses typically occur?
Actinic Keratoses typically occur on UV-exposed areas of the skin, such as the face, ears, neck, scalp, and hands, due to chronic sun exposure.
Why are Actinic Keratoses considered precancerous?
Actinic Keratoses are considered precancerous because they result from the accumulation of genetic damage in keratinocytes, which can progress to Squamous Cell Carcinoma (SCC) if left untreated.
What is the significance of the cellular morphology in Actinic Keratoses?
The cellular morphology of Actinic Keratoses is microscopically identical to that of Squamous Cell Carcinoma (SCC) in situ, indicating the potential for these lesions to evolve into invasive cancer.
What is the risk of developing Squamous Cell Carcinoma (SCC) in patients with multiple Actinic Keratoses (AK)?
Patients with more than 8 Actinic Keratoses (AK) have a 10% chance of developing Squamous Cell Carcinoma (SCC) within 10 years. However, it is unpredictable which specific lesions will progress to SCC.
What is Imiquimod Cream and how does it work?
Imiquimod Cream is a Toll-like receptor 7 (TLR7) agonist that induces inflammation and apoptosis in abnormal cells. It is used to treat skin conditions like actinic keratoses and superficial basal cell carcinomas (BCCs).
What is the typical duration of treatment with Imiquimod Cream?
The typical duration of treatment with Imiquimod Cream is 4 to 10 weeks, depending on the condition being treated and the response to therapy
What are the common side effects of Imiquimod Cream?
Common side effects include inflammatory reactions, necrosis at the application site, and possible flu-like symptoms. The treatment area may become cosmetically impaired, and adherence to treatment is crucial.
What conditions is Imiquimod Cream commonly used to treat?
Imiquimod Cream is commonly used to treat widespread actinic keratoses and superficial basal cell carcinomas (BCCs).
Why is patient compliance important when using Imiquimod Cream?
Patient compliance is important because the treatment can cause significant inflammatory reactions and necrosis, which can be cosmetically impairing. Consistent use is necessary to ensure effectiveness.
How does healthy skin react to Imiquimod Cream?
Healthy skin typically does not react to Imiquimod Cream, as it is designed to target abnormal cells in conditions like actinic keratoses and superficial BCCs.
What are the primary surgical options for treating Non-Melanoma Skin Cancers (NMSC)?
The primary surgical options for treating NMSC include excisional surgery, Mohs micrographic surgery, curettage and electrodesiccation, and cryosurgery.
