Telangiectasia hemorrágica hereditaria: Aspectos otorrinolaringologías

Thrombocytopenia in dyschromatosis universalis hereditaria.

A 14-year old boy presented to causality medical ward with history of left side chest pain and asymptomatic progressive mottled pigmentation over the trunk and limbs, which had been noted since birth and had become more noticeable with age. There was no history of photophobia or photosensitivity. They were born to healthy, non consanguineous parents, following an uneventful pregnancy. His mothe...

Dyschromatosis Symmetrica Hereditaria of Late Onset?

Dyschromatosis symmetrica hereditaria (DSH), also known as reticulated acropigmentation of Dohi, is an autosomal dominant disease with high penetrance, characterized by hypo- and hyperpigmented macules of varying sizes on the dorsal of the extremities with reticulated pattern. This paper presents a female patient with typical dermatological lesions, but only diagnosed in adulthood. It is necess...

Dyschromatosis symmetrica hereditaria: a pedigree study

Dyschromatosis symmetrica hereditaria (DSH), also known as reticulate acropigmentation of Dohi, is an autosomal dominant disease with high penetrance, characterized by hypoand hyper-pigmented macules in varying sizes on the dorsal extremities with reticulated pattern. This paper presents an unmarried Chinese male patient with typical dermatological lesions. Four generations of the family with 2...

Aspectos de aleatoriedad

Dyschromatosis Symmetrica Hereditaria and RNA Editing Enzyme

Dyschromatosis symmetrica hereditaria (DSH) is a highly penetrant autosomal-dominant skin disease. It is characterized by a mixture of hyperand hypo-pigmented macules on the dorsal aspects of the hands and feet (Figure 1). The disorder typically has its onset during infancy or early childhood, stops spreading before adolescence and lasts for life. It was clarified in 2003 that a heterozygous mu...