Abstract
Linear whorled naevoid hypermelanosis (LWNH) is a rare skin condition, characterized by swirls and whorls of hyperpigmented macules distributed in a reticulate pattern along the lines of Blaschko. We report a 2-year-old boy who presented with linear and whorled hyperpigmentation on his trunk and limbs, following the lines of Blaschko. Hyperkinesia and developmental speech-language impairment were also present. A biopsy specimen showed increased pigmentation within the basal keratinocytes without incontinentia pigmenti. No chromosomal abnormality was found in peripheral blood samples. Chromosomal analysis of skin fibroblasts detected trisomy 4 mosaicism. This case shows for the first time an association of LWNH with trisomy 4 mosaicism. LWNH should not be considered a single entity, but a cutaneous expression of mosaicism.
| Original language | English |
|---|---|
| Pages (from-to) | 45-47 |
| Number of pages | 3 |
| Journal | Clinical and Experimental Dermatology |
| Volume | 40 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 1 2015 |
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ASJC Scopus subject areas
- Dermatology
- Medicine(all)
Cite this
Linear and whorled naevoid hypermelanosis in a patient with trisomy 4 mosaicism. / Lal, K.; Di Lernia, V.
In: Clinical and Experimental Dermatology, Vol. 40, No. 1, 01.01.2015, p. 45-47.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Linear and whorled naevoid hypermelanosis in a patient with trisomy 4 mosaicism
AU - Lal, K.
AU - Di Lernia, V.
PY - 2015/1/1
Y1 - 2015/1/1
N2 - Linear whorled naevoid hypermelanosis (LWNH) is a rare skin condition, characterized by swirls and whorls of hyperpigmented macules distributed in a reticulate pattern along the lines of Blaschko. We report a 2-year-old boy who presented with linear and whorled hyperpigmentation on his trunk and limbs, following the lines of Blaschko. Hyperkinesia and developmental speech-language impairment were also present. A biopsy specimen showed increased pigmentation within the basal keratinocytes without incontinentia pigmenti. No chromosomal abnormality was found in peripheral blood samples. Chromosomal analysis of skin fibroblasts detected trisomy 4 mosaicism. This case shows for the first time an association of LWNH with trisomy 4 mosaicism. LWNH should not be considered a single entity, but a cutaneous expression of mosaicism.
AB - Linear whorled naevoid hypermelanosis (LWNH) is a rare skin condition, characterized by swirls and whorls of hyperpigmented macules distributed in a reticulate pattern along the lines of Blaschko. We report a 2-year-old boy who presented with linear and whorled hyperpigmentation on his trunk and limbs, following the lines of Blaschko. Hyperkinesia and developmental speech-language impairment were also present. A biopsy specimen showed increased pigmentation within the basal keratinocytes without incontinentia pigmenti. No chromosomal abnormality was found in peripheral blood samples. Chromosomal analysis of skin fibroblasts detected trisomy 4 mosaicism. This case shows for the first time an association of LWNH with trisomy 4 mosaicism. LWNH should not be considered a single entity, but a cutaneous expression of mosaicism.
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UR - http://www.scopus.com/inward/citedby.url?scp=84916908580&partnerID=8YFLogxK
U2 - 10.1111/ced.12484
DO - 10.1111/ced.12484
M3 - Article
C2 - 25495673
AN - SCOPUS:84916908580
VL - 40
SP - 45
EP - 47
JO - Clinical and Experimental Dermatology
JF - Clinical and Experimental Dermatology
SN - 0307-6938
IS - 1
ER -