[Dyskeratosis congenita in monozygous twins].
Dyskeratosis congenita (DC) is a very rare form of genodermatosis with variable manifestations, which mainly affects male patients. The main clinical symptoms are poikilodermia, nail dystrophy and leucoplakia; there are many other cutaneous and systemic symptoms. To avoid complications and improve the prognosis early diagnosis and regular close surveillance of the patients are important. We report on 13-year-old monozygotic twin brothers who, in addition to the typical symptoms, had increased vulnerability of the skin, scarring of the hands and atrophy of the oral mucosa as well as splenomegaly, pancytopenia with severe aplasia of bone marrow and aseptic necrosis of the hip. The two brothers had nearly synchronous clinical manifestation and progression. This paper reviews the clinical symptoms, pathogenesis, differential diagnosis and genetic aspects of DC.
Burkhardt
D
D
Abteilung für Pädiatrische Genetik der Kinderpoliklinik, Universität München.
Schirren
C G
CG
Schuffenhauer
S
S
Ullmann
S
S
Schirren
H
H
D000293:Adolescent; D003937:Diagnosis, Differential; D004200:Diseases in Twins / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007642:Keratosis / Q000175:diagnosis / Q000235:genetics*; D007972:Leukoplakia, Oral / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009264:Nails, Malformed / Q000175:diagnosis / Q000235:genetics*; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014430:Twins, Monozygotic; D014960:X Chromosome
Dyskeratosis congenita bei monozygoten Zwillingen.