Dyskeratosis congenita: two examples of this multisystem disorder.
Pediatrics
; 71(4): 603-9, 1983 Apr.
Article
en En
| MEDLINE
| ID: mdl-6601257
ABSTRACT
Two brothers with the X-linked disorder, dyskeratosis congenita, are described. They showed the dermatologic triad of reticular hyperpigmentation, dystrophic nails, and leukoplakia oris as well as the other major feature of this disorder, aplastic anemia. Less common features observed included prenatal and postnatal growth retardation, mental retardation, elevated immunoglobulin levels, and gastrointestinal hemorrhage from mucosal ulceration. Previously unreported findings were intracranial calcifications and nutmeg-like cirrhotic changes of the liver. These brothers demonstrated that skeletal changes and bony fragility may predate anemia or steroid therapy. Although a DNA repair defect is postulated as a possible primary defect, cytogenetic studies revealed no evidence of increased chromosomal breakage.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trastornos de la Pigmentación
/
Leucoplasia Bucal
/
Anemia Aplásica
/
Enfermedades de la Uña
Límite:
Adolescent
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Pediatrics
Año:
1983
Tipo del documento:
Article