Dyskeratosis congenita




Dyskeratosis congenita (DKC, Zinsser-Cole-Engman syndrome), is a rare progressive congenital disorder with a highly variable phenotype. The entity was classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, but these components do not always occur. DKC is characterized by short telomeres. Some of the manifestations resemble premature aging (similar to progeria). The disease initially mainly affects the skin, but a major consequence is progressive bone marrow failure which occurs in over 80%, causing early mortality.


The list of signs and symptoms mentioned in various sources for Dyskeratosis Congenita includes the 53 symptoms listed below: Hyperpitmentation, Hypopigmentation, Irregular brownish gray pigmented patches, Irregular brownish gray pigmented patches on neck, Irregular brownish gray pigmented patches on upper chest, Irregular brownish gray pigmented patches on upper arms, Atrophic skin patches, Hyperkeratosis of palms, Hyperkeratosis of soles, Bullae, Excessive sweating of palms, Excessive sweating of soles, Premalignant leukoplakia on mucous membranes, Premalignant leukoplakia on lips, Premalignant leukoplakia on mouth, Premalignant leukoplakia on anus, Premalignant leukoplakia on urethra, Premalignant leukoplakia on conjunctiva, Blepharitis, Conjunctivitis, Exctropion, Nasolacrimal obstruction, Excessive tears, Dystrophy, Absence of nail, Dental caries, Gum recession, Short-blunted tooth roots, Moveable teeth, Severe alveolar bone loss, Sparse hair, Fine hair, Premature graying, Pancytopenia, Osteoporosis, Fragile bones, Avascular necrosis, Testicular hypoplasia, Esophageal strictures,  Esophageal stenosis, Nasopharyngeal strictures, Nasopharyngeal stenosis, Urethral strictures, Urethral stenosis, Ureteral strictures, Ureteral stenosis, Vaginal strictures, Vaginal stenosis, Leukoplakia lesions, Alopecia, Middle ear abnormalities, Pigmented skin flecks, Pigmented skin spots.


  • Atrophic skin patches
  • Conjunctivitis
  • Dental caries
  • Fine hair
  • Fragile bones
  • Hypopigmentation
  • Osteoporosis
  • Premature graying
  • Sparse hair


In cases of diffuse thickening of the skin, a thyroid profile with T 3 , T 4 , and TSH should be done. This should also identify hypothyroidism. A positive ANA test with a speckled pattern will help identify scleroderma, but a skin biopsy should also be done. An antisclerodermal antibody titer is also useful if available. Esophageal motility studies will be helpful in early diagnosis. A skin biopsy will help identify many of the other conditions mentioned above. Urine for porphyrins will help identify porphyria.