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Dyskeratosis congenita - Nail and Distal Digit
See also in: Overview
Other Resources UpToDate PubMed

Dyskeratosis congenita - Nail and Distal Digit

See also in: Overview
Contributors: Shari Lipner MD, PhD, Susan Burgin MD, Bertrand Richert MD, Robert Baran MD
Other Resources UpToDate PubMed


Dyskeratosis congenita is a rare genetic multisystem disorder related to abnormalities with telomere shortening. It is characterized by reticulated hyperpigmentation of the neck, face, and trunk, palmar hyperkeratosis, premalignant leukoplakia, and nail abnormalities. The most common nail abnormalities are longitudinal ridges, pterygium, or atrophic / absent nails.

The condition also may cause lacrimal duct atresia with excessive tearing and bone marrow failure with consequent anemia, thrombocytopenia, or pancytopenia. Hyperhidrosis of palms and soles, blister formation, acrocyanosis, hair loss (scalp), and early tooth loss also occur.

Pneumonia and sinusitis, likely due to defective humoral immune system (dysgammaglobulinemias), are common. Suppression of cellular immunity is evidenced by opportunistic infections with Pneumocystis pneumonia and cytomegalovirus. Pancytopenia, Fanconi type, is a possible complication. Death by the third decade from bone marrow failure, infection, malignancy (squamous cell cancer, usually of mucous membranes, acute myelogenous leukemia, or Hodgkin disease), pulmonary fibrosis, or liver cirrhosis is a frequent occurrence.

Dyskeratosis congenita has an X-linked recessive inheritance, most frequently, or may be inherited in an autosomal recessive or dominant fashion.


Q82.8 – Other specified congenital malformations of skin

74911008 – Dyskeratosis congenita

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Rothmund-Thomson syndrome
  • Pachyonychia congenita
  • Chronic graft-versus-host disease
  • Lichen planus of the nails
  • AL amyloidosis with nail involvement
  • Hidrotic ectodermal dysplasia
  • Darier disease
  • McCune-Albright syndrome
  • Bloch-Sulzberger syndrome
  • Cronkhite-Canada syndrome
  • Xeroderma pigmentosum variant
  • Kindler syndrome
  • Dermatopathia pigmentosa reticularis
  • Naegeli syndrome
In considering the differential of aplastic anemia:
  • Fanconi anemia
  • Diamond-Blackfan anemia
  • Amegakaryocytic thrombocytopenia
  • Shwachman-Diamond syndrome
  • Thrombocytopenia with radial aplasia
  • Kostmann syndrome
  • Pearson syndrome

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Last Reviewed:04/20/2017
Last Updated:01/13/2022
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Dyskeratosis congenita - Nail and Distal Digit
See also in: Overview
A medical illustration showing key findings of Dyskeratosis congenita : Oral ulcers, Oral white plaque, Reticular configuration, Tongue, Short broken nails
Clinical image of Dyskeratosis congenita - imageId=1405839. Click to open in gallery.  caption: 'A thinned fingernail plate and pink plaques at the distal fingers.'
A thinned fingernail plate and pink plaques at the distal fingers.
Copyright © 2024 VisualDx®. All rights reserved.