Dyskeratosis Congenita

Overview

A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Dyskeratosis Congenita

Topic type

Condition

Category

Dermatology

MeSH classification

C15.378.190.223.500.750|C16.131.831.150|C16.320.322.108|C16.320.850.235|C17.800.804.150|C17.800.827.235

Preparing for an appointment about Dyskeratosis Congenita

If you are speaking with a healthcare professional about Dyskeratosis Congenita, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

Finding care related to Dyskeratosis Congenita

EuroCareFinder helps patients explore clinics and healthcare providers across Europe. Some topics link directly to services offered by clinics, while others may be connected through related specialties, treatments or procedures.

Related topics

Explore healthcare providers

Use EuroCareFinder to browse clinics by country, specialty and available services.