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A female baby born in Nagpur, India, in June 2016 died after two days. She was the first case reported in India. [38] [39] [40] Hannah Betts: Born 1989 in Great Britain; died in 2022 at 32 years old. [41] Ng Poh Peng was born in 1991 in Singapore. Doctors had not expected her to live past her teenage years. As of 2024, she is 32 years old. [42]
Harlequin color change is a cutaneous condition seen in newborn babies characterized by momentary red color changes of half the child, sharply demarcated at the body's midline. This transient change occurs in approximately 10% of healthy newborns. [ 1] It is seen usually between two and five days of birth. The condition lasts from 30 seconds to ...
Schamberg's disease, or progressive pigmented purpuric dermatosis, is a chronic discoloration of the skin which usually affects the legs and often spreads slowly. This disease is more common in males and may occur at any age from childhood onward. This condition is observed worldwide and has nothing to do with race or ethnic background.
Caudal regression syndrome. Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum ), is a rare birth defect. It is a congenital disorder in which the fetal development of the lower spine —the caudal partition of the spine—is abnormal. [ 1] It occurs at a rate of approximately one per 60,000 live births.
Dr. Dana Price, pediatric neurologist and director of Angelman Clinic at NYU in New York City, described the disorder as a "spectrum." It can include "low muscle tone, developmental delay, poor ...
Presentation. Affected babies are born in a collodion membrane, a shiny, waxy-appearing outer layer to the skin. This is shed 10–14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis . With increasing age, the scaling tends to be concentrated around joints in areas such as the ...
Livedo reticularis is a common skin finding consisting of a mottled reticulated vascular pattern that appears as a lace-like purplish discoloration of the skin. [ 1] The discoloration is caused by reduction in blood flow through the arterioles that supply the cutaneous capillaries, resulting in deoxygenated blood showing as blue discoloration.
Mongolian spot is a congenital developmental condition—that is, one existing from birth—exclusively involving the skin. The blue colour is caused by melanocytes, melanin -containing cells, that are usually located in the surface of the skin (the epidermis ), but are in the deeper region (the dermis) in the location of the spot. [ 6]
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