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3 rezultati
Griscelli syndrome type 2; a pediatric case with immunodeficiency.
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A 3.5 month-old girl was admitted with silvery gray hair, light colored skin, recurrent diarrhea, chest infections, hepatosplenomegaly, episodes of pancytopenia, and hemophagocytosis in the bone marrow. Light microscopy of hair showed characteristic large and irregular clumps of melanin in the
Duodenal pseudomelanosis (pseudomelanosis duodeni): a rare endoscopic finding.
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Duodenal pseudomelanosis (or pseudomelanosis duodeni) is a rare benign condition characterized by black-brown speckled pigmentation of the duodenal mucosa. Collections of pigment-laden macrophages are found in the tips of duodenal villi. The pigment is thought to be mostly composed of ferrous
Hereditary polypoid diseases of the gastrointestinal tract: a working classification.
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Almost all published cases of hereditary intestinal polypoid diseases can be meaningfully classified into a relatively few distinct syndromes including familial polyposis of the colon, Peutz-Jeghers syndrome, and juvenile polyposis. Familial polyposis is characterized by the development of numerous
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