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Hereditary disease causing pigmented flat/non-circumscribed lesion

User Tbolender
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Hereditary diseases like albinism and xeroderma pigmentosum affect skin pigmentation by disrupting melanin production or DNA repair, resulting in depigmented skin or pigmented lesions. Pseudoxanthoma elasticum and alkaptonuria also cause pigmentation changes and additional systemic symptoms.

Step-by-step explanation:

Hereditary Diseases and Skin Pigmentation

Hereditary diseases affecting skin pigmentation often involve genetic mutations that disrupt the normal production of melanin, the pigment responsible for skin, eye, and hair color. Conditions like albinism are characterized by a deficiency or absence of the enzyme tyrosinase, leading to little or no melanin production. Individuals with albinism have depigmented skin, which is susceptible to sunburn, and may have white or very light hair and a bluish or pinkish iris. Other conditions, such as xeroderma pigmentosum, involve a failure to repair DNA damage caused by UV light, leading to pigmented skin lesions and a high risk of skin cancer.

Pseudoxanthoma elasticum is another hereditary condition causing pigmented lesions. It results from calcification and fragmentation of elastic fibers, affecting not only the skin but also the eyes and cardiovascular system. Alkaptonuria is characterized by a failure to metabolize the amino acids phenylalanine and tyrosine, leading to darkened skin and other complications such as joint damage.

User Eliah
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