Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (21)

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

Synopsis

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.

Codes

ICD10CM:
Q82.8 – Other specified congenital malformations of skin

SNOMEDCT:
74911008 – Dyskeratosis congenita

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

To perform a comparison, select diagnoses from the classic differential

Subscription Required

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed:04/20/2017
Last Updated:01/13/2022
Copyright © 2024 VisualDx®. All rights reserved.
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.