Dyskeratosis congenita

Synonym(s)

Zinsser-Engman-Cole syndrome; Zinsser-Cole-Engman syndrome

Definition

Genodermatosis characterized by reticulated hyperpigmentation, nail dystrophy, premalignant leukoplakia of the oral mucosa, and progressive pancytopenia

Pathogenesis

Mutations in DKCi cause X-linked recessive form; involved in the regulation of the pro-liferative capacity of the cell; defect in maintenance of telomeres results in chromosomal instability, telomeric rearrangements, and cancer progression; etiology of autosomal dominant and autosomal recessive forms unknown

Clinical manifestation

Cutaneous manifestations developing between 5 and 15 years of age; tan-to-gray, hyperpigmented or hypopigmented macules and patches in a mottled, or reticulated pattern, sometimes with poikilo-derma; located on the upper trunk, neck, and face, often with involvement of sun-exposed areas; scalp alopecia; mucosal leu-koplakia on the buccal mucosa, tongue, oropharynx, esophagus, urethral meatus, glans penis, lacrimal duct, conjunctiva, vagina, anus; dental caries; progressive nail dystrophy; increased incidence of malignant neoplasms, particularly squamous cell carcinoma of the skin, mouth, nasopharynx, esophagus, rectum, vagina, and cer vix; late bone marrow failure; pulmonary complications

Differential diagnosis

Graft versus host disease; Fanconi syndrome; Rothmund-Thompson syndrome; ataxia telangiectasia

Therapy

No therapy for skin disease; bone marrow transplantation

References

Dokal I (2000) Dyskeratosis congenita in all its forms. British Journal of Haematology iio(4):768-779

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