Linear and whorled naevoid hypermelanosis in a patient with trisomy 4 mosaicism. (1st January 2015)

• Record Type: Journal Article
• Authors: Lal, K.; Di Lernia, V.
• Is Part Of: Clinical and experimental dermatology. Volume 40:Number 1(2015)
• Page Start: 45
• Page End: 47
• Publication Date: 2015-01-01
• Subjects: Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/ced.12484
• Languages: English
• ISSNs: 0307-6938

Abstract

Summary: 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.