Dyskeratosis Congenita

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.

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Dyskeratosis congenita with linear areas of severe cutaneous involvement

Baselga

Drolet

Tuinen

et al. 1998

Am. J. Med. Genet.

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Identification of DKC1 gene mutation in an Indian patient

et al. 2010

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Dyskeratosis congenita--X-linked variety was diagnosed in a twelve year old male child with cutaneous pigmentary changes and dystrophic changes in nails of hands and feet. His elder brother had similar nail changes and had died at twelve yr of age. We demonstrated the A353V mutation in the proband after sequencing the DKC1 gene. The mother was found to be carrier for the same mutation. She did not have any clinical manifestations. This is the commonest mutation worldwide responsible for X-linked variety of this disease and has been demonstrated for the first time in an native Indian patient.

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Oral‐dental findings in dyskeratosis congenita

Yavuzyilmaz

Yamalik

Yetgin

et al. 1992

J Oral Pathology Medicine

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Dyskeratosis Congenita

Cited by 4 publications

References 18 publications