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Which are the symptoms of Acrogeria - Gottron Syndrome?

See the worst symptoms of affected by Acrogeria - Gottron Syndrome here

Acrogeria - Gottron Syndrome symptoms

Acrogeria - Gottron Syndrome is a rare genetic disorder that primarily affects the skin, blood vessels, and bones. It is characterized by a premature aging appearance, specifically in the hands and feet. The syndrome was first described by Gottron and Acrogeria in the 1970s.



Symptoms:



1. Skin Changes: One of the prominent features of Acrogeria - Gottron Syndrome is the thinning and tightening of the skin. The affected individuals may develop a parchment-like appearance, with visible veins and loss of elasticity. The skin may become fragile and prone to bruising or tearing even with minimal trauma.



2. Wrinkling: Wrinkling of the skin is a common symptom, particularly on the hands and feet. The wrinkles may be deep and exaggerated, resembling those seen in elderly individuals.



3. Joint Contractures: Joint contractures, or the inability to fully extend or flex certain joints, are frequently observed in Acrogeria - Gottron Syndrome. This can lead to limited mobility and difficulties in performing daily activities.



4. Osteoporosis: Individuals with this syndrome often experience bone loss, resulting in decreased bone density and increased risk of fractures. Osteoporosis may contribute to the characteristic skeletal abnormalities seen in Acrogeria - Gottron Syndrome.



5. Vascular Abnormalities: Some individuals may exhibit vascular abnormalities, such as dilated blood vessels or telangiectasias, which are small, widened blood vessels near the surface of the skin. These vascular changes can contribute to the fragile and thin appearance of the skin.



6. Nail Changes: Nail abnormalities are common in Acrogeria - Gottron Syndrome. These may include brittle nails, ridges, or a spoon-shaped appearance (koilonychia).



7. Hair Changes: Hair thinning or loss (alopecia) may occur in some individuals with this syndrome.



8. Facial Features: While not as pronounced as in other premature aging syndromes, individuals with Acrogeria - Gottron Syndrome may exhibit subtle facial changes, such as thinning lips or a small chin.



9. Growth Retardation: In some cases, affected individuals may experience growth retardation, resulting in shorter stature compared to their peers.



10. Other Symptoms: Additional symptoms that may be present include thinning of the subcutaneous fat layer, muscle wasting, and delayed wound healing.



It is important to note that the severity and combination of symptoms can vary among individuals with Acrogeria - Gottron Syndrome. Some individuals may experience a milder form of the syndrome, while others may have more pronounced features.



Diagnosis of Acrogeria - Gottron Syndrome is typically based on clinical evaluation, medical history, and genetic testing. As it is a rare disorder, management primarily focuses on symptomatic treatment and supportive care to address specific symptoms and improve quality of life.


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