TY - JOUR
T1 - Naevus anaemicus-like hypopigmented macules in dyskeratosis congenita
AU - Lee, Yi Pei
AU - Chao, Sheau Chiou
AU - Lee, Julia Yu Yun
PY - 2011/5
Y1 - 2011/5
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=79958228204&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79958228204&partnerID=8YFLogxK
U2 - 10.1111/j.1440-0960.2011.00742.x
DO - 10.1111/j.1440-0960.2011.00742.x
M3 - Article
C2 - 21605101
AN - SCOPUS:79958228204
SN - 0004-8380
VL - 52
SP - 142
EP - 145
JO - Australasian Journal of Dermatology
JF - Australasian Journal of Dermatology
IS - 2
ER -