Dental Problems

Dyskeratosis Congenita

TeethacheDyskeratosis congenital is also known as Zinssner-Engman-Cole syndrome. It is a well recognized but a rare genokeratosis, which is probably inherited as a recessive characteristic. Disease manifested has 3 typical signs: Oral leukoplakia, dystrophy of nails and pigmentation of skin. In this article, there is a brief discussion on the dyskeratosis congenital. Read on to know more.

Dyskeratosis congenita

Clinical features:

  • Sex:

    It is almost exclusively seen in men.

  • Nail changes:

    These are the first manifestation, becoming dystrophic and shedding some time after 5 years of age.

  • Pigmentation:

    Grayish brown color pigmentations appear in some time which is usually seen on thigh, neck and trunk.

  • Skin:

    The skin might become telangiectatic, atrophic and the face appears red.

  • Other features:

    Some of the other minor manifestations are frail skeleton, small sella turcica, mental retardation, dysphagia, deafness, transparent tympanic membrane, epiphora, deafness, eyelid infection, small testes, urethral anomalies and hyperhydrosis of the soles and palms.

Oral manifestations:

  • Age:

    Between the age group of 5 -14 years, the oral lesions have onset.

  • Sites:

    Buccal mucosa and tongue are the most common sites.

  • Appearance:

    This condition appears as diffusely distributed ulcerations and vesicles, followed by the accumulation white patches of superimposed monolial infection (sometimes) and necrotic epithelium.

  • After some time,there are repeated recurrent ulceration and the development of red mucosal lesion or erythroplasia in the age group of14 -20 years.
  • Finally between 20 -30 years of age, there is a development of carcinoma and erosive leukoplakia.

Radiographic feature:

There might be severe periodontal bone loss.

Histopathological features:

  • Skin lesion shows an increase in the number of melanin containing chromatophores and an increased vascularity.
  • Depending on the disease stage, epithelium might show dysplasia.

Laboratory findings:

There is leukoplakia, anemia, thrombocytopenia and pancytopenia.

Management:

No specific treatment and no periodic check up is needed.

The above article discusses briefly about

dyskeratosis congenital.

 

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