Actinic lichen planus

od strane | мар 31, 2023 | Bolesti

Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus (see this term) characterized by the development of photo-distributed lichenoid lesions.

ALG11-CDG

od strane | мар 31, 2023 | Bolesti

ALG11-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting...

ALG6-CDG

od strane | мар 31, 2023 | Bolesti

ALG6-CDG is a form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions...

Mal de Meleda

od strane | мар 31, 2023 | Bolesti

Mal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be...

Babesiosis

od strane | мар 31, 2023 | Bolesti

Babesiosis is an infectious disease caused by protozoa of the genus Babesia and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death.

DK1-CDG

od strane | мар 31, 2023 | Bolesti

DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in...

Oculotrichodysplasia

od strane | мар 31, 2023 | Bolesti

Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.