Dyskeratosis congenita Zinsser-Cole-Engmann Form with Abnormal Karyotype

Abstract

A typical case of dyskeratosis congenita (DC) is presented with its classic triad of poikiloderma, ungual dystrophy, and leukoplakial changes of the mucosal surfaces. The extensive involvement of the mucous membranes of the bronchial and gastrointestinal tracts is emphasized. For the first time, to our knowledge, chromosomal changes consisting of an increase in structural and numerical abnormalities are mentioned. Finally, some comments are made concerning the association of this disease with immunologic abnormalities, dysplasia of the reticulolymphoid and hematologic systems.

Bronchoalveolar disease in dyskeratosis congenita

“…There was scarce pathological evidence of alveolar involvement with descriptions such as fibrocystic dysplasia [10], segmental fibrosis with leucocyte infiltration [11] and chronic pneumonitis [12]. Survival was poor, ranging between 12-40 months after the onset of dyspnoea [7,10,11,13,14]. Taken together with the present observations, these findings suggest that peculiar respiratory manifestations occur within the setting of DC, and consist of early sputum production, with subsequent bronchial and alveolar changes leading to rapidly progressive respiratory failure .…”

“…T-cell deficiencies are common in DC [1,14], including the present case. This immunodeficiency could partly explain the reported cases of fatal acute lung infections [1,13,15,16]. Pneumocystis carinii pneumonia and disseminated cytomegalovirus infection have occasionally been documented [1] , while in other cases recurrent bacterial lung infections have been reported [11,13,14].…”

“…This immunodeficiency could partly explain the reported cases of fatal acute lung infections [1,13,15,16]. Pneumocystis carinii pneumonia and disseminated cytomegalovirus infection have occasionally been documented [1] , while in other cases recurrent bacterial lung infections have been reported [11,13,14]. Repeated bouts of bronchoalveolar infections, leading to respiratory tract injury, with subsequent fibrotic repair, may therefore be involved in the pathogenesis of the bronchial and alveolar changes.…”

“…In all of these cases, sputum production occurred early in life. Diffuse radiological chest abnormalities were usual [10,11,13]. There was scarce pathological evidence of alveolar involvement with descriptions such as fibrocystic dysplasia [10], segmental fibrosis with leucocyte infiltration [11] and chronic pneumonitis [12].…”

Linking Gene Fusions to Bone Marrow Failure and Malignant Transformation in Dyskeratosis Congenita

“…2024, 25, 1606 2 of 19 that both structural and numerical chromosomal aberrations are common manifestations in DC, playing a critical role in its pathology and influencing disease progression. These aberrations are also suggested to promote genomic rearrangements [3][4][5][6].…”