Dyskeratosis Congenita: Two Examples of This Multisystem Disorder

Abstract

Two brothers with the X-linked disorder, dyskeratosis congenita, are described. They showed the dermatologic triad of reticular hyperpigmentation, dystrophic nails, and leukoplakia oris as well as the other major feature of this disorder, aplastic anemia. Less common features observed included prenatal and postnatal growth retardation, mental retardation, elevated immunoglobulin levels, and gastrointestinal hemorrhage from mucosal ulceration. Previously unreported findings were intracranial calcifications and nutmeg-like cirrhotic changes of the liver. These brothers demonstrated that skeletal changes and bony fragility may predate anemia or steroid therapy. Although a DNA repair defect is postulated as a possible primary defect, cytogenetic studies revealed no evidence of increased chromosomal breakage.

Bronchoalveolar disease in dyskeratosis congenita

“…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].…”

Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability

“…DC is the archetypal TBD. It was initially characterized by the so-called DC triad that consists of reticular skin pigmentation, nail dystrophy, and oral leukoplakia ( 115 ). Although, these features are not universal nor do they exist concomitantly in all patients with DC/TBD, but they are individually found in more than 80% of patients ( 116 ).…”

“…Although, these features are not universal nor do they exist concomitantly in all patients with DC/TBD, but they are individually found in more than 80% of patients ( 116 ). The presence of the three classic triad components has been reported in 46% of patients with DC/TBD ( 115 ). Other consistent but less frequent physical abnormalities are pulmonary and liver fibrosis ( 116 – 118 ).…”

“…One of the largest cohorts of patients with DC/TBD described hepatic manifestations in 40% of patients ( 196 ). The range of hepatic involvement includes mild findings, such as hepatomegaly, inflammation, hemosiderosis, and fibrosis, to more severe manifestations such as cirrhosis and portal hypertension ( 115 , 197 , 198 ). Imaging evaluation has showed an increase in hepatic echogenicity in 39%, hepatomegaly in 26%, and nodular contour suggestive of cirrhosis in 25% of patients ( 196 ).…”