Dyskeratosis congenita (DC) is a genetic syndrome with progressive multisystem involvement classically characterized by the clinical triad of oral leukoplakia, nail dystrophy, and reticular hyperpigmentation. Frequent complications are bone marrow failure, increased rate of malignancy, lung and liver diseases. DC results from an anomalous progressive shortening of telomeres resulting in DNA replication problems inducing replicative senescence. We report a death due to DC in a 16-year-old male with bone marrow failure and multiple organ dysfunction. At autopsy, nail dystrophy and skin hypopigmentation were observed. Gross and microscopic examinations of the internal organs showed cardiac hypertrophy, multiple lung consolidations and prominent interstitial fibrosis, liver cirrhosis, and fibrosis. Multiple foci of extramedullary hematopoiesis were identified, including on the epidural surface of the dura, that is an infrequent location, mimicking a focal area of epidural hemorrhage. Only a few autopsy studies about DC are reported in the literature. Further research should be done to understand the pathophysiology of the disease and its complications.
AraiY, Martin-RuizCM, TakayamaM, et al. Inflammation, but not telomere length, predicts successful ageing at extreme old age: a longitudinal study of semi-supercentenarians. EBioMedicine. 2015;2(10):1549-58. [https://doi.org/10.1016/j.ebiom.2015.07.029]. [PMID:26629551]
SavageSA, GiriN, BaerlocherGM, OrrN, LansdorpPM, AlterBP. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet. 2008;82(2):501-9. [https://doi.org/10.1016/j.ajhg.2007.10.004]. [PMID:18252230]
YangD, HeQ, KimH, MaW, SongyangZ. TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase. J Biol Chem. 2011;286(26):23022-30. [https://doi.org/10.1074/jbc.M111.225870]. [PMID:21536674]
WardSC, SavageSA, GiriN, AlterBP, CowenEW. Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure. J Am Acad Dermatol. 2017;77(6):1194-8. [https://doi.org/10.1016/j.jaad.2017.07.018]. [PMID:29033247]
IrajiF, JamshidiK, PouraziziM, Abtahi-NaeiniB. Dyskeratosis congenita without oral involvement: a rare hereditary disease. Oman Med J. 2015;30(3):212-5. [https://doi.org/10.5001/omj.2015.44]. [PMID:26171129]
HoffmanTW, van der VisJJ, van OosterhoutMF, et al. TINF2 Gene Mutation in a Patient with Pulmonary Fibrosis. Case Rep Pulmonol. 2016;2016:1310862. [https://doi.org/10.1155/2016/1310862]. [PMID:27088026]
MahansariaSS, KumarS, BharathyKG, KumarS, PamechaV. Liver transplantation after bone marrow transplantation for end stage liver disease with severe hepatopulmonary syndrome in Dyskeratosis Congenita: a literature first. J Clin Exp Hepatol. 2015;5(4):344-7. [https://doi.org/10.1016/j.jceh.2015.10.003]. [PMID:26900277]
SinghA, PandeyVK, TandonM, PandeyCK. Dyskeratosis congenita induced cirrhosis for liver transplantation-perioperative management. Indian J Anaesth. 2015;59(5):312-4. [https://doi.org/10.4103/0019-5049.156888]. [PMID:26019357]
TrowbridgeAA, SirinavinC, LinmanJW. Dyskeratosis congenita: hematologic evaluation of a sibship and review of the literature. Am J Hematogy. 1977;l3:143-152.
WiedemannHP, McGuireJ, DwyerJM, et al. Progressive immune failure in dyskeratosis congenita; report of an adult in whom Pneumocystitis carinii and fatal disseminated candidiasis developed. Arch Intern Med. 1984;144(2):397-39. [https://doi.org/10.1001/archinte.1984.00350140227031]. [PMID:6607716]
KawaguchiK, SakamakiH, OnozawaY, KoikeM. Dyskeratosis congenita (Zinsser-Cole-Engman syndrome). An autopsy case presenting with rectal carcinoma, non-cirrhotic portal hypertension, and Pneumocystis carinii pneumonia. Virchows Arch A Pathol Anat Histopathol. 1990;417(3):247-53. [https://doi.org/10.1007/BF01600141]. [PMID:2166977]
VerraF, KouzanS, SaiagP, BignonJ, de CremouxH. Bronchoalveolar disease in dyskeratosis congenita. Eur Respir J. 1992;5(4):497-9. [PMID:1563509]
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