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The cause of the disease is a haploinsufficiency of the enzyme ATP2C1; [7] the ATP2C1 gene is located on chromosome 3, which encodes the protein hSPCA1.A mutation on one copy of the gene causes only half of this necessary protein to be made and the cells of the skin do not adhere together properly due to malformation of intercellular desmosomes, causing acantholysis, blisters and rashes.
Benjamin Stacy, born in 1975, was the last known descendant of the Fugates to have been born exhibiting the characteristic blue color of the disorder, though he quickly lost his blue skin tone, exhibiting only blue tinges on his lips and fingertips when he became cold or agitated. [5]
Pica is the eating or craving of things that are not food. [2] It is classified as an eating disorder but can also be the result of an existing mental disorder. [3] The ingested or craved substance may be biological, natural or manmade.
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
Milroy's disease (MD) is a familial disease characterized by lymphedema, commonly in the legs, caused by congenital abnormalities in the lymphatic system. Disruption of the normal drainage of lymph leads to fluid accumulation and hypertrophy of soft tissues.
Menkes disease (MNK), also known as Menkes syndrome, [1] [2] is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, [3] leading to copper deficiency.
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 block or hepatosplenomegaly. [3]
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