AI Summary & Key Takeaways
AI InsightIn this article, a 19-year-old white male who had reticulated hyperpigmented and atrophie skin lesions on the neck, shoulders, popliteal fossae and limbs, and leucokeratosis on the dorsum and sides of the tongue, and dystrophic nails, and who was diag-nosed as dyskeratosis congenita was reported.
📌 3 Key Takeaways
Abstract
Dyskeratosis congenita is a rare, X-linked recessive, severe multisystem disease characterized by atrophy and pigmentation of skin; nail dystrophy, leukoplakia of mucous membranes, bone-marrow failure and a predisposition to malignancy. The autozomal dominant and autozomal recessive forms of the disease are recognized. The pathogenesis of dyskeratosis congenita is still unclear, but DKC1 gene, mapped to Xq28 was seen responsible for X-linked dyskeratosis congenita, and a curative therapy is presently lacking. In this article, a 19-year-old white male who had reticulated hyperpigmented and atrophie skin lesions on the neck, shoulders, popliteal fossae and limbs, and leucokeratosis on the dorsum and sides of the tongue, and dystrophic nails, and who was diag-nosed as dyskeratosis congenita was reported.
Özet
Diskeratozis konjenita, deride atrofi ve pigmentasyon, tırnak distrofisi, müköz membranlarda lökoplaki, kemik iliği yetersizliği ve maligniteye yatkınlık ile karakterize nadir, çoğunlukla X'e bağlı resesif, ciddi, multisistemik bir hastalıktır. Ayrıca otozomal dominant ve otozomal resesif formları da bildirilmiştir. Hastalığın patogenezi hala bilinmemesine rağmen, Xq28'e lokalize DKC1 geni, X'e bağlı diskeratozis konjenitadan sorumlu görünmektedir. Günümüzde küratif bir tedavisi yoktur. Bu makalede, diskeratozis konjenita tanısı konan, boyun, omuzlar, popliteal fossa ve dudaklarda retiküler, hiperpigmente ve atrofik deri lezyonları olan, dilinde ve dudaklarında lökoplaki ve tırnak distrofisi bulunan 19 yaşında bir erkek olgu nadir görülmesi nedeniyle sunulmuştur.