title: Linear and whorled naevoid hypermelanosis in a patient with trisomy 4 mosaicism.
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.
authors.affiliation: New York College of Osteopathic Medicine, New York, NY, USA.
authors.forename: K
authors.initials: K
authors.lastname: Lal
authors.forename: V
authors.initials: V
authors.lastname: Di Lernia
mesh_terms: D002675:Child, Preschool; D002894:Chromosomes, Human, Pair 4; D006801:Humans; D008297:Male; D008548:Melanosis / Q000235:genetics* / Q000473:pathology*; D009030:Mosaicism; D014314:Trisomy