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Usually, pseudoxanthoma elasticum affects the skin first, often in childhood or early adolescence. [7] Small, yellowish papular lesions form and cutaneous laxity mainly affect the neck, axillae (armpits), groin, and flexural creases (the inside parts of the elbows and knees). [3] [8] Skin may become lax and redundant.
The skin displays follicular dyskeratosis (degeneration of the skin in hair follicules), which reflects as hypovitaminosis A (systemic Vitamin A deficiency). [15] The skin reactions are caused by an abnormality in the desmosome-keratin filament complex leading to a breakdown in cell adhesion. [16] [5]
In the earlier stages of actinic elastosis, elastic fiber proliferation can be seen in the dermis. As the condition becomes more established, the collagen fibers of the papillary dermis and reticular dermis become increasingly replaced by thickened and curled fibers that form tangled masses and appear basophilic under routine haematoxylin and eosin staining.
Symptoms typically begin in the feet or hands but can start in other parts of the body. Some people initially experience a more generalized, whole-body pain. The pain is often described as stabbing or burning, or abnormal skin sensations such as tingling or itchiness. In some individuals, the pain is more severe during times of rest or at night.
Machado–Joseph disease (MJD), also known as Machado–Joseph Azorean disease, Machado's disease, Joseph's disease or spinocerebellar ataxia type 3 (SCA3), is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, [1] [2] which results in a lack of muscle control and coordination of the upper and lower extremities. [3]
The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin. [3] Within the latter type, the hairs occur in structures called pilosebaceous units , each with hair follicle , sebaceous gland , and associated arrector pili muscle. [ 4 ]
Wilson's disease (also called hepatolenticular degeneration) is a genetic disorder characterized by the excess build-up of copper in the body. Symptoms are typically related to the brain and liver. Liver-related symptoms include vomiting, weakness, fluid build-up in the abdomen, swelling of the legs, yellowish skin, and itchiness.
Cerebellar degeneration is a condition in which cerebellar cells, otherwise known as neurons, become damaged and progressively weaken in the cerebellum. [1] There are two types of cerebellar degeneration; paraneoplastic cerebellar degeneration , and alcoholic or nutritional cerebellar degeneration. [ 2 ]