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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]
Death usually occurs during early adulthood. Frequency. around 1 in 500,000 [ 5] Epidermolysis bullosa ( EB) is a group of rare medical conditions that result in easy blistering of the skin and mucous membranes. Blisters occur with minor trauma or friction and are painful. Its severity can range from mild to fatal. [ 7]
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 ...
Incontinentia pigmenti. This condition is inherited in an X-linked dominant manner. Incontinentia pigmenti ( IP) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system. It is named from its appearance under a microscope. [ 1]
Cat-eye syndrome (CES) or Schmid–Fraccaro syndrome is a rare condition caused by an abnormal extra chromosome, i.e. a small supernumerary marker chromosome. [ 2] This chromosome consists of the entire short arm and a small section of the long arm of chromosome 22. In consequence, individuals with the cat-eye syndrome have three ( trisomic) or ...
Darier's disease (DD) is a rare, genetic skin disorder. It is an autosomal dominant disorder, that is, if one parent has DD, there is a 50% chance than a child will inherit DD. It was first reported by French dermatologist Ferdinand-Jean Darier in 1889. Mild forms of the disease are the most common, consisting of skin rashes that flare up under ...
Specialty. Neonatology, Immunology. Neonatal lupus erythematosus is an autoimmune disease in an infant born to a mother with anti-Ro/SSA and with or without anti-La/SSB antibodies. [ 1][ 2] The disease most commonly presents with a rash resembling subacute cutaneous lupus erythematosus and can have systemic abnormalities such as complete heart ...
Uncommon [ 2] Blueberry muffin baby, also known as extramedullary hematopoiesis, describes a newborn baby with multiple purpura, associated with several non-cancerous and cancerous conditions in which extra blood is produced in the skin. [ 1] The bumps range from one to seven mm, do not blanch and have a tendency to occur on the head, neck and ...