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Dyskeratosis congenita with linear areas of severe cutaneous involvement. Am J Med Genet 1998 Feb 17;75(5):492-6 PMID: 9489792

Pubmed ID

9489792

Abstract

Dyskeratosis congenita (DC) is a rare hereditary disorder of skin which may be associated with aplastic anemia. The pattern of inheritance is X-linked recessive in most instances, but autosomal dominant and autosomal recessive types have been documented. Reticulated hyperpigmentation usually is the first manifestation. The pigmentary changes may be limited to neck, upper chest, and proximal parts of the limbs initially but within affected areas the involvement is always diffuse. We report on a patient with typical diffuse cutaneous signs of dyskeratosis congenita superimposed with hyperpigmentation that was more pronounced along Blaschko's lines. To explain this phenomenon, we assume that the patient has the autosomal dominant type and that loss of heterozygosity occurred in a somatic cell giving rise to a population of cells that migrated along these lines during embryogenesis.

Author List

Baselga E, Drolet BA, van Tuinen P, Esterly NB, Happle R

Authors

Beth A. Drolet MD Professor in the Dermatology department at Medical College of Wisconsin
Peter VanTuinen PhD Professor in the Pathology department at Medical College of Wisconsin




Scopus

2-s2.0-0032539589   10 Citations

MESH terms used to index this publication - Major topics in bold

Adolescent
Dyskeratosis Congenita
Fibroblasts
Humans
Karyotyping
Loss of Heterozygosity
Male
Skin
jenkins-FCD Prod-297 dff1a717c492f00bf6291286365f1f4fe95208f1