title: Scalp lesions in Turner syndrome: a result of lymphoedema?
abstract: Lymphoedema and skin naevi are common in children with Turner syndrome (TS). Lymphoedema in the early stages of fetal life is thought to cause several of the phenotypic characteristics in patients with TS such as nuchal folds and pterygium colli. We present two patients with TS who have unusual lesions on the scalp. The first patient had an oval circumscribed lesion. Two biopsies were obtained from the lesion. Increased numbers of collagen fibres were seen in the reticular dermis suggesting the diagnosis of connective tissue naevus. The second patient presented with an area with skin folds on the scalp, similar to cutis verticis gyrata. Although unusual in TS, both lesions could be considered as resolving stages of lymphoedema. We suggest that karyotyping should be performed in cases of female infants presenting with similar lesions.
authors.affiliation: Department of Internal Medicine (Dermatology) Department of Pathology Department of Medical Genetics Perinatal Genetics Program, School of Medical Sciences - State University of Campinas (FCM - UNICAMP), Brazil.
authors.forename: Mariam Patrícia
authors.initials: MP
authors.lastname: Auada
authors.forename: Maria Letícia
authors.initials: ML
authors.lastname: Cintra
authors.forename: Maria Beatriz
authors.initials: MB
authors.lastname: Puzzi
authors.forename: Danilo
authors.initials: D
authors.lastname: Viana
authors.forename: Denise Pontes
authors.initials: DP
authors.lastname: Cavalcanti
mesh_terms: D002675:Child, Preschool; D003094:Collagen / Q000378:metabolism; D003238:Connective Tissue / Q000378:metabolism; D019066:Facies; D005260:Female; D006222:Hamartoma / Q000150:complications / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008209:Lymphedema / Q000150:complications* / Q000175:diagnosis; D018330:Nevus, Intradermal / Q000378:metabolism; D010641:Phenotype; D012867:Skin / Q000378:metabolism; D014424:Turner Syndrome / Q000150:complications* / Q000175:diagnosis
chemical_list: D003094:Collagen