Dyskeratosis congenita Q82.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 23.11.2022

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Atrophia cutis reticularis cum pigmentatione; Atrophia cutis reticularis cum pigmentatione dystrophia unguium et leukoplakia oris; Cole buzzkill-Toomey syndrome; Cole disease; Cole-Engmann Syndrome; congenital dyskeratosis; dyskeratosis congenital; Dystrophia unguium et leukoplakia oris; Interest Rate Cole-Engman Syndrome; Polydysplasia ectodermica type Cole buzzkill-Toomey

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Interest rates, 1910; Cole, 1930

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Rare, hereditary genodermatosis with premature aging, which is characterized by the triad of hypo- or hyperpigmentation, onychodystrophy (beginning before the age of 5 years) and leukoplakia in addition to severe systemic involvement (neurological, gastrointestinal, dental, ophthalmological, pulmonological and skeletal changes). The incidence of malignancies is increased in these patients.

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Autosomal-dominant, autosomal-recessive and X-linked recessive inheritance have been described.

  • Autosomal-dominant inheritance is caused by mutations of the human telomerase RNA gene (see TERT gene below).
  • Mutations of the dyskerin(DKC1) gene (gene locus Xq28) are inherited X-linked recessively (see also MAGE-A3).

The dysfunction of dyskerin , which determines the disease, can lead to a telomere maintenance defect and resulting proliferation arrest via an interaction with telomerase and the associated telomere shortening. This would explain the inhibition of the highly proliferative tissues skin and bone marrow.

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Occurs mainly between the ages of 5 and 10, almost exclusively in the male sex. Rare are late manifestations beyond the 30th LJ.

Clinical features
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As an early symptom, there may be lacrimation and conjunctivitis. Characteristic is the triad:

In addition, palmo-plantar hyperkeratosis and hyperhidrosis, obstruction of the lacrimal orifices, and frequent blistering of the mouth and skin may be observed.

Concomitant symptoms: Frequent diseases of the hematopoietic system, e.g. neutropenia. See also Fanconi-Zinsser syndrome. Development of poikiloderma, ectropion, lacrimation, conjunctivitis, perlèche, anal fissures, urethral fissures with partial closure of the orifice. Other malformations of the eyes, bones, joints, heart, vessels or intestines are possible.

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Often pancytopenia with leukopenia, anemia, thrombocytopenia. Possibly immature precursor cells in the differential blood count.

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In areas of hyperpigmentation melanophages, mild or absent epidermis atrophy and inflammatory infiltrate in the upper corium.

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Molecular genetic analysis, possibly prenatal diagnostics, clinic, bone marrow smear, differential blood count, radiological diagnostics in the area of growth disorders.

Differential diagnosis
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Symptomatic therapy of complications. Early diagnosis is important in order to detect and treat or monitor infections and carcinomas (especially in the mucous membrane area) at an early stage. Close monitoring! In the 50% of patients with bone marrow alterations, allogenic stem cell transplantation if necessary. Limited therapeutic success through experimental therapy approaches with human granulocyte-macrophage colony stimulating factor (e.g. Molgramostim).

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Awkward. Life expectancy is limited (average 24 years), the course is progressive. Frequently progressive bone marrow failure (about 60-70% of patients die of this) and carcinoma development in the area of the mucous membrane changes.

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  1. AlSabbagh MM. Dyskeratosis congenita: a literature review. J Dtsch Dermatol Ges 18:943-967.
  2. Arca E et al (2003) Dyskeratosis congenita with esophageal and anal stricture. Int J Dermatol 42: 555-557.
  3. Benoit S et al (2006) Dyskeratosis congenita in a 40-year-old patient. Dermatol 57: 313-316
  4. Burkhardt D et al (1994) Dyskeratosis congenita in monozygotic twins. Dermatologist 45: 249-255
  5. Cole HN, Rauschkolb JE, Toomey J (1930) Dyskeratosis congenita with pigmentation, dystrophia unguium and leukokeratosis oris. Arch Dermatol Syphilol (Berlin) 21: 71-95.
  6. Dokali (2001) Dyskeratosis congenita. A disease of premature aging. Lancet 358: S27
  7. Dror Y et al (2003) Low-intensity hematopoietic stem-cell transplantation across human leucocyte antigen barriers in dyskeratosis congenita. Bone Marrow Transplant 31: 847-850.
  8. Phillips RJ et al (1992) Dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation. Br J Dermatol 127: 278-280
  9. Russo Cl et al (1990) Treatment of neutropenia associated with dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor. Lancet I: 751-752
  10. Theimer CA et al (2003) Mutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA. Proc Natl Acad Sci USA 100: 449-454.
  11. Zinsser F (1910) Atrophia cutis reticularis cum pigmentatione, dystrophia unguium et leukoplakia oris. Iconogr Dermatol Fasc 5: 219-223


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Last updated on: 23.11.2022