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Wrinkly skin syndrome (WSS) is a rare genetic condition characterized by sagging, wrinkled skin, low skin elasticity, and delayed fontanelle (soft spot) closure, along with a range of other symptoms. [1] The disorder exhibits an autosomal recessive inheritance pattern with mutations in the ATP6V0A2 gene, leading to abnormal glycosylation events ...
Dupuytren's contracture of the right little finger. Arrow marks the area of scarring. Typically, Dupuytren's contracture first presents as a thickening or nodule in the palm, which initially can be with or without pain. [11] Later in the disease process, which can be years later, [12] there is increasing loss of range of motion of the affected ...
In pathology, a contracture is a shortening of muscles, tendons, skin, and nearby soft tissues that causes the joints to shorten and become very stiff, preventing normal movement. [ 1 ] [ 2 ] A contracture is usually permanent, but less commonly can be temporary (such as in McArdle disease ), [ 3 ] or resolve over time but reoccur later in life ...
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]
Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. [2]
Rosacea. What it looks like: Rosacea causes redness and thick skin on the face, usually clustered in the center.Easy flushing, a stinging sensation, and small, pus-filled pimples are other common ...
Diabetic cheiroarthropathy, also known as diabetic stiff hand syndrome or limited joint mobility syndrome, is a cutaneous condition characterized by waxy, thickened skin and limited joint mobility of the hands and fingers, leading to flexion contractures, a condition associated with diabetes mellitus [1]: 681 and it is observed in roughly 30% of diabetic patients with longstanding disease.
The palate can have a high arch, causing dental crowding. Blood vessels can sometimes be easily seen through translucent skin, especially on the chest. The genetic connective tissue disorder Loeys–Dietz syndrome also has symptoms that overlap with EDS. [115] In the past, Menkes disease, a