Naevus anaemicus-like hypopigmented macules in dyskeratosis congenita

Research output: Contribution to journalArticle

Abstract

In the present paper we report on a Taiwanese case of X-linked recessive dyskeratosis congenita (DC), confirmed by detection of a 214 C→T mutation in the DKC1 gene, and provide a detailed description of mottled pigmentary changes of the skin, specifically numerous small, whitish macules dispersed against a background of diffuse, finely reticulated hyperpigmentation. The hypopigmented macules showed no discernible erythema upon rubbing or the local application of heat. The naevus anaemicus-like macules may be a relatively common but under-recognized feature in DC. More studies are required to determine the incidence and histopathology of these macules.

Original languageEnglish
Pages (from-to)142-145
Number of pages4
JournalAustralasian Journal of Dermatology
Volume52
Issue number2
DOIs
Publication statusPublished - 2011 May 1

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Dyskeratosis Congenita
Nevus
Hyperpigmentation
Erythema
Hot Temperature
Skin
Mutation
Incidence
Genes

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

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abstract = "In the present paper we report on a Taiwanese case of X-linked recessive dyskeratosis congenita (DC), confirmed by detection of a 214 C→T mutation in the DKC1 gene, and provide a detailed description of mottled pigmentary changes of the skin, specifically numerous small, whitish macules dispersed against a background of diffuse, finely reticulated hyperpigmentation. The hypopigmented macules showed no discernible erythema upon rubbing or the local application of heat. The naevus anaemicus-like macules may be a relatively common but under-recognized feature in DC. More studies are required to determine the incidence and histopathology of these macules.",
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Naevus anaemicus-like hypopigmented macules in dyskeratosis congenita. / Lee, Yi Pei; Chao, Sheau-Chiou; Lee, Yu-Yun.

In: Australasian Journal of Dermatology, Vol. 52, No. 2, 01.05.2011, p. 142-145.

Research output: Contribution to journalArticle

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