Table 1. Reported autopsy cases of dyskeratosis congenita in the English literature.

Author (year)	Sex	Age	Autopsy findings
Bryan et al.22	M	31	EE: Moderately clubbed fingers and toes, with softening of the nailbeds. IE: Portal cirrhosis, esophageal and mediastinal varices, chronic pneumonitis, patent foramen ovale, mild hypoplasia of the aorta, and anomalous ostia of the left coronary artery.
Trowbridge et al.23	M	29	EE: “features consistent with dyskeratosis congenita”. IE: Markedly hypocellular bone marrow. Sections of mediastinal, periaortic, and mesenteric lymph nodes showed striking lymphoid depletion of cortical and pericortical areas. Primary follicles were almost totally absent from the cortex. Normal liver and spleen. Disseminated cytomegalovirus infection.
Mills et al.24	M	14	EE: Dystrophic and fragmented nails, patchy leukoplakia on the buccal mucosa, marked hyperkeratosis and hyperhidrosis of the palms and soles, atrophic skin of the hands and feet. IE: Acute cardiac failure and gastroenteritis. Extensive osteoporosis and marked erythroid hyperplasia. Enlarged parathyroid glands. Brain and cerebellar calcifications. Microscopic sections of brain showed laminated, amorphous, perivascular concretions that condensed to form large irregular masses.
Wiedemann et al.25	M	22	EE: Absent fingernails and toenails, fine reticular hyperpigmentation over the face and neck. IE: No thymic tissue identified. Histologically, the spleen and lymph nodes contained numerous plasma cells, but there was pericortical lymphoid depletion of pericortical areas. Massive disseminated candidiasis with involvement of kidney, liver, bone marrow, lung, trachea, heart, and skeletal muscle.
Kawaguchi et al.26	M	24	EE: Reticular hyperpigmentation of the skin studded with depigmented spots, dystrophy of the nails, atrophy of lingual papillae, and hypertrophic squamous epithelium with cellular atypia in the oral and anal mucosa. IE: Scirrhous poorly differentiated adenocarcinoma with irregular ulceration of the lower part of the rectum, involving its entire wall and the surrounding tissues, including the urinary bladder and the prostate. Fibrocongestive splenomegaly (450 gr.). Mild esophageal varices. Markedly atrophic testes. Normocellular bone marrow with erythroid hyperplasia. Extremely slender folia of the cerebellum. Atrophy of the frontal lobes of the brain. Marked lymphocyte depletion and atrophy of lymphoid parenchyma in systemic lymph nodes, tonsils, gastrointestinal tract, spleen, and thymus.
Verra et al.27	M	39	EE: Hyperpigmentation, forming a network pattern, over the neck, the chest and around the armpits. Strongly dystrophic fingernails and toenails, either destroyed or fused with keratotic skin. Tongue leukoplasia. IE: (autopsy restricted to the right lung): Lung nonspecific collagenous interstitial fibrosis with cuboidal metaplasia of alveolar epithelial cells in an area devoid of bronchiectasis.
Rocha et al.28	M	6	EE: Dystrophic nails, leucoplakia, skin pigmentation, epiphora. IE: Liver veno-occlusive disease. Lung concentric subintimal thickening and lumen narrowing by fibrosis of terminal lung venules. Kidneys thrombotic micro-angiopathic arterial syndrome.

EE: external examination; IE: internal examination.