Trichofolliculoma

od strane | мар 31, 2023 | Bolesti

Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central...

Vasculitis

od strane | мар 31, 2023 | Bolesti

Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis; see these terms), medium-sized vessels...

Oligodontia

od strane | мар 31, 2023 | Bolesti

Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.

Takayasu arteritis

od strane | мар 31, 2023 | Bolesti

Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

Citrullinemia

od strane | мар 31, 2023 | Bolesti

Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations...

DPAGT1-CDG

od strane | мар 31, 2023 | Bolesti

DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency,...

Geroderma osteodysplastica

od strane | мар 31, 2023 | Bolesti

Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and...