title: Kikuchi-Fujimoto disease in patient with systemic phacomatosis pigmentovascularis.
abstract: Despite remarkable progress in diagnosis and understanding the pathogenesis of rare diseases, their management still remains very difficult and reserved especially for specialized medical center. Skin disorders [(systemic phacomatosis pigmentovascularis (PPV) and persistent lymphadenopathy (Kikuchi-Fujimoto disease (KFD)] are two rare conditions in the pediatric age. We describe an 11-year-old boy with congenital phacomatosis pigmentovascularis suffering from fever, nocturnal perspiration, fatigue, poor appetite and right cervical lymphadenopathy. The predominance of systemic symptoms prompted an extensive investigation. The diagnosis of PPV was confirmed by physical examination and MRI, and diagnosis of KFD was made after direct histological examination of a lymph node biopsy. Seeing the low prevalence of these two diseases, it becomes important that a prompt and correct diagnosis is required to minimize unnecessary investigation and the inappropriate instigation of potentially harmful treatments as well as providing reassurance to the child, parents and doctors involved.
authors.affiliation: aUniversity Department of Pediatrics bRare Diseases and Medical Genetics Unit, Department of Pediatric Medicine cDivision of Rheumatology, Department of Pediatric Medicine dUnit of Pathology, Bambino Gesù" Children's Hospital, Rome, Italy.
authors.forename: Hyppolite K
authors.initials: HK
authors.lastname: Tchidjou
authors.forename: Marina
authors.initials: M
authors.lastname: Macchiaiolo
authors.forename: Paola
authors.initials: P
authors.lastname: Ariganello
authors.forename: Francesca Calò
authors.initials: FC
authors.lastname: Carducci
authors.forename: Rita
authors.initials: R
authors.lastname: De Vito
authors.forename: Fabrizio
authors.initials: F
authors.lastname: De Benedetti
authors.forename: Patrizia
authors.initials: P
authors.lastname: D'Argenio
mesh_terms: D002648:Child; D020042:Histiocytic Necrotizing Lymphadenitis / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008297:Male; D020752:Neurocutaneous Syndromes / Q000175:diagnosis* / Q000473:pathology; D035583:Rare Diseases