Abstract
Dyskeratosiscongenita (DC) is a rare geneticdisordercharacterized by a distinctive clinicaltriadaffecting the skin, mucous membranes and bonemarrow. Although the condition has been described for over a century, itoftenremainsunrecognized and under-diagnosed due to its variable clinicalpresentation. Typicalclinical manifestations of DC includereticular skin pigmentation, naildystrophy and mucosallesionssuch as oral leukoplakia. However, the clinicalpresentation can beheterogeneous, sometimescomplicating the diagnosis. In addition to cutaneous and mucosalsymptoms, DC can also lead to serious complications such as bonemarrowfailure, increasing the risk of anemia, thrombocytopenia and neutropenia. In addition, patients with DC have an increasedrisk of neoplastic complications.Wepresent the case of a 7-year-old childfrom a first-degreeconsanguineousmarriage, whoconsulted for the first time with an anemic syndrome. Afterdetailedevaluation, the diagnosis of bonemarrowaplasia syndrome on a background of dyskeratosiscongenitawasestablished. This observation highlights the diagnostic challenges encountered in DC and underscores the importance of early recognition and appropriate management to improve patient prognosis.
Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
