Ehrlichiosis

od strane | мар 31, 2023 | Bolesti

Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations....

Saccharopinuria

od strane | мар 31, 2023 | Bolesti

Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.

COG5-CDG

od strane | мар 31, 2023 | Bolesti

COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.

Pili torti

od strane | мар 31, 2023 | Bolesti

Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes...

Anotia

od strane | мар 31, 2023 | Bolesti

Anotia is a congenital malformation of the external ear and the most extreme form of microtia (see this term) characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language...

Calciphylaxis cutis

od strane | мар 31, 2023 | Bolesti

Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal...

Toxocariasis

od strane | мар 31, 2023 | Bolesti

Toxocariasis is a cosmopolitan zoonotic disease caused in humans by the accidental ingestion of eggs or larvae of the ascarids Toxocara canis or Toxocara cati, the common round worm of dogs and cats respectively. The infestation can be asymptomatic or can present as...