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Autosomal dominant, autosomal recessive and X-linked recessive inheritance are described. Mutations of the human telomerase RNA(TERT) gene are inherited autosomal-dominantly. Mutations of the dyskerin (DKC1) gene, which are mapped on the gene locus Xq28 (see also MAGE-A3), are inherited X-linked. The dyskerin dysfunction that determines the disease can, through interaction with telomerase and the associated telomere shortening, lead to a telomere maintenance defect and resulting proliferation arrest. This would explain the inhibition of the highly proliferative tissues skin and bone marrow.
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- An early symptom may be tearing and conjunctivitis. Characteristic is the triad:
- Chronic paronychia with consecutive nail dystrophies up to the complete loss of the nails(anonychia).
- Whitish thickening ( leukokeratosis) of the oral mucosa, rarely also of the anal, vaginal and urethral mucosa.
- Extensive areas with reticular hyperpigmentation and redness, telangiectasia, diffuse atrophy of the skin, anetodermia-like foci similar to poikilodermia vascularis atrophicans.
- In addition, palmo-plantar hyperkeratosis and hyperhidrosis, obstruction of the lacrimal duct openings and frequent blistering of the mouth and skin can be observed.
- Accompanying symptoms: More frequent diseases of the hematopoietic system, e.g. neutropenia. S.a. Fanconi-Zinsser syndrome. Formation 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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LiteratureThis section has been translated automatically.
- Arca E et al (2003) Dyskeratosis congenita with esophageal and anal stricture. Int J Dermatol 42: 555-557
- Benoit S et al (2006) Dyskeratosis congenita in a 40-year-old patient. Dermatologist 57: 313-316
- Burkhardt D et al (1994) Dyskeratosis congenita in monozygotic twins. Dermatologist 45: 249-255
- Cole HN, Rauschkolb JE, Toomey J (1930) Dyskeratosis congenita with pigmentation, dystrophia unguium and leukokeratosis oris. Arch Dermatol Syphilol (Berlin) 21: 71-95
- Dokali (2001) Dyskeratosis congenita. A disease of premature ageing. Lancet 358: S27
- 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
- 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
- Russo Cl et al (1990) Treatment of neutropenia associated with dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor. Lancet I: 751-752
- 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
- Zinsser F (1910) Atrophia cutis reticularis cum pigmentatione, dystrophia unguium et leukoplakia oris. Ikonogr Dermatol Fasc 5: 219-223
Incoming links (23)Atrophia cutis reticularis cum pigmentatione, dystrophia unguium et leukoplakia oris; Berlin syndrome; Cole buzzkill-toomey syndrome; Cole-engmann syndrome; Cole, harold newton; Dyskeratosis, congenital; Eye diseases, skin changes; Fanconi-zinsser syndrome; Hypotrichosis; Interest rate cole-engman syndrome; ... Show all
Outgoing links (22)Anal fissure; Anetodermia; Anonymity (overview); Atrophy of the skin (overview); Ectropium; Fanconi anaemia; Fanconi-zinsser syndrome; Graft-versus-host disease; Granulocyte-macrophage colony stimulating factor; Hyperhidrosis (overview); ... Show all
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