Gemahsis' devastated mother Tamar Srondy has told how her young boy was diagnosed with a disease called dyskeratosis congenita
- rare and progressive bone marrow failure syndrome.
or Zinsser-Cole-Engman syn-dromeis is a rare inherited bone marrow failure syndrome (IBMFS) characterized by diagnostic triad of reticulated skin hyperpigmentation, nail dystrophy, and oromucosal leukoplakia (1).
An extensive variety of cutaneous conditions bearing a resemblance to CARP were considered in the differential diagnosis, including acanthosis nigricans (AN), tinea versicolor, Darier disease, terra firma-forme dermatosis, prurigo pigmentosa, flagellate dermatosis, and dyskeratosis congenita
Oral squamous cell carcinoma in a case of dyskeratosis congenita
The differential diagnoses of generalized RPD are dyschromatosis universalis hereditaria (DUH), dermatopathia pigmentosa reticularis (DPR), Naegeli- Franceschetti-Jadassohn syndrome and dyskeratosis congenita
Telomere dysfunction is the hallmark of the telomere syndromes, conditions that are clinically characterized by premature aging and are exemplified by dyskeratosis congenita
These nonsignificant results are in agreement with the previously-reported relationships in a panel of more than 20 different human cancer cell lines [sup] and in unaffected dyskeratosis congenita
Cian, four, suffers from Dyskeratosis Congenita
which affects one in a million.
Oral and dental phenotype of dyskeratosis congenita
(DC) is a rare congenital disease involving integumentary system.
Collins achieved fame by showing that defects in telomerase (the enzyme that lengthens telomeres) are linked with a genetic disease called dyskeratosis congenita
, which is associated with bone marrow failure.
Die facility's goal is to develop and maintain standardized iPSCs lines specific to a variety of rare inherited diseases--not only DBA and JMML, but also dyskeratosis congenita
, congenital dyserythropoietic anemia, thrombocytopenia absent radii (TAR), Glanzmarm's thrombasthenia and Hermansky--Pudlak syndrome.