title: Association of piebaldism and neurofibromatosis type 1 in a girl.
abstract: We report an 11-year-old girl with both piebaldism and neurofibromatosis type 1 (NF1). The patient had large depigmented patches on her lower limbs and a white forelock since birth. In addition, some café au lait spots were present on her trunk at birth and had increased in number and size during childhood in concomitance with the appearance of axillary and inguinal freckling. Neither neurofibromas nor Lisch nodules were detected and the patient was otherwise healthy. Pedigree analysis revealed inheritance for piebaldism on the paternal side. To our knowledge, the association of piebaldism and NF1 has been described previously in only three patients. Awareness of this rare association is relevant to ensure early diagnosis and adequate follow-up for NF1.
authors.affiliation: Division of Paediatric Dermatology, Istituto Dermopatico dell'Immacolata, IRCCS, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Angelo
authors.forename: G
authors.initials: G
authors.lastname: Cianchini
authors.forename: M G
authors.initials: MG
authors.lastname: Grosso
authors.forename: G
authors.initials: G
authors.lastname: Zambruno
authors.forename: R
authors.initials: R
authors.lastname: Cavalieri
authors.forename: M
authors.initials: M
authors.lastname: Paradisi
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000473:pathology; D016116:Piebaldism / Q000150:complications* / Q000235:genetics / Q000473:pathology; D012867:Skin / Q000473:pathology