dyskeratosis congenita - traduzione in arabo
RARE PROGRESSIVE CONGENITAL DISORDER WITH A HIGHLY VARIABLE PHENOTYPE
Zinsser–Cole–Engman syndrome; Dyskeratosis congenita (Zinsser-Cole-Engman syndrome); Zinsser-Engman-Cole syndrome; Zinsser-Cole-Engman syndrome; XL-dyskeratosis congenita
dyskeratosis congenita
خَلَلُ التَّقَرُّنِ الخِلْقِيّ
Jadassohn-Lewandowsky syndrome
RARE GROUP OF AUTOSOMAL DOMINANT SKIN DISORDERS THAT ARE CAUSED BY A MUTATION IN ONE OF FIVE DIFFERENT KERATIN GENES
Pachyonychia; Pachyonychia congenita type I; Pachyonychia congenital type I; Jadassohn-Lewandown-Sky syndrome; Pachyonychia congenita type II; Jackson-Lawler pachyonychia congenita; Jackson-Sertoli syndrome; Jackson-Lawler type pachyonychia congenita; Jadassohn–Lewandowsky syndrome; Jackson–Lawler pachyonychia congenita; Jackson–Sertoli syndrome; Jadassohn-Lewandowsky syndrome; Pachyonychia congenita type III; Schafer-Brunauer syndrome; Jackson-Lawler syndrome; Jadasssohn-Lewandowsky syndrome; Jadassohn Lewandowsky syndrome; Pachyonychia congenita Jackson Lawler type; Pachyonychia congenita Jackson–Lawler type; Pachyonychia congenita Jackson-Lawler type; Pachyonychia congenita type 1; Pachyonychia congenita type 2
مُتَلاَزِمَةُ ياداسون-ليفاندفسكي (1- تثخن الأظافر الخلفي 2- تقران راحي أخمصي)
Jadassohn Lewandowsky syndrome
RARE GROUP OF AUTOSOMAL DOMINANT SKIN DISORDERS THAT ARE CAUSED BY A MUTATION IN ONE OF FIVE DIFFERENT KERATIN GENES
Pachyonychia; Pachyonychia congenita type I; Pachyonychia congenital type I; Jadassohn-Lewandown-Sky syndrome; Pachyonychia congenita type II; Jackson-Lawler pachyonychia congenita; Jackson-Sertoli syndrome; Jackson-Lawler type pachyonychia congenita; Jadassohn–Lewandowsky syndrome; Jackson–Lawler pachyonychia congenita; Jackson–Sertoli syndrome; Jadassohn-Lewandowsky syndrome; Pachyonychia congenita type III; Schafer-Brunauer syndrome; Jackson-Lawler syndrome; Jadasssohn-Lewandowsky syndrome; Jadassohn Lewandowsky syndrome; Pachyonychia congenita Jackson Lawler type; Pachyonychia congenita Jackson–Lawler type; Pachyonychia congenita Jackson-Lawler type; Pachyonychia congenita type 1; Pachyonychia congenita type 2
مُتَلاَزِمَةُ ياداسون-ليفاندفسكي:1- تثخن الأظافر الخلفي 2- تقران راحي أخمصي
Wikipedia
Dyskeratosis congenita
Dyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, is a rare progressive congenital disorder with a highly variable phenotype. The entity was classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, and MDS/AML, but these components do not always occur. DKC is characterized by short telomeres. Some of the manifestations resemble premature ageing (similar to progeria) and cognitive impairment can be a feature. The disease initially mainly affects the skin, but a major consequence is progressive bone marrow failure which occurs in over 80%, causing early mortality.
