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Parry–Romberg syndrome (PRS) is a rare disease presenting in early childhood [1] characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body. [2]
The skin weighs an average of four kilograms, covers an area of two square metres, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. [1] 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]
Trichoepithelioma-like CCS papules are composed of islands and cords of uniform basaloid cells (i.e. cuboid-shaped cells resembling skin germinative cells) in a fibrous stroma, epithelial structures resembling hair papillae or incompletely-formed hair follicles, small keratocysts (i.e. skin cysts) lined by stratified squamous epithelium, and ...
Scleroderma is also associated with an increased risk of cardiovascular disease. [46] According to a study of an Australian cohort, between 1985 and 2015, the average life expectancy of a person with scleroderma increased from 66 years to 74 years (the average Australian life expectancy increased from 76 to 82 years in the same period). [47]
Fissure is a lesion in the skin that is usually narrow but deep. [29] [33] Induration is dermal thickening causing the cutaneous surface to feel thicker and firmer. [29] Atrophy refers to a loss of skin, and can be epidermal, dermal, or subcutaneous. [30] With epidermal atrophy, the skin appears thin, translucent, and wrinkled. [29]
Bethlem myopathy is a slowly progressive muscle disease characterized predominantly by contractures, rigidity of the spine, skin abnormalities and proximal muscle weakness. [ 5 ] [ 11 ] Symptoms may present as early as infancy, with typical contractures and hyperlaxity of joints; however, in some patients, symptoms may go unnoticed until ...
Pseudoxanthoma elasticum (PXE) is a genetic disease that causes mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis. [2] [3] [4] PXE is caused by autosomal recessive mutations in the ABCC6 gene on the short arm of chromosome 16 ...
Hirayama disease, also known as monomelic amyotrophy (MMA), [1] [2] is a rare motor neuron disease first described in 1959 in Japan. Its symptoms usually appear about two years after adolescent growth spurt and is significantly more common in males, with an average age of onset between 15 and 25 years.