Ulerythema ophryogenesis

od strane | мар 31, 2023 | Bolesti

Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild...

DPM1-CDG

od strane | мар 31, 2023 | Bolesti

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular...

Pyoderma gangrenosum

od strane | мар 31, 2023 | Bolesti

Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate.

Legionellosis

od strane | мар 31, 2023 | Bolesti

Legionellosis or Legionnaires’ disease (LD) is a bacterial lung infection characterized by a potentially fatal pneumonia.

PPoma

od strane | мар 31, 2023 | Bolesti

PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal...

Polyarteritis nodosa

od strane | мар 31, 2023 | Bolesti

Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the...

Dentinogenesis imperfecta

od strane | мар 31, 2023 | Bolesti

Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development.