title: Revisiting histopathologic findings in Goltz syndrome.
abstract: Goltz syndrome (focal dermal hypoplasia) is an X-linked dominant disorder that is classically associated with yellowish papules representing fat herniation (superficial adipocytes). We report a series of three cases, with clinicopathologic correlation of biopsies from Blaschkoid streaks. A range of histopathologic features, including some underreported findings (increased papillary dermal blood vessels, decreased thickness of the dermis, and adipocytes high in the dermis), are reproducible and can strongly point to the correct diagnosis of Goltz syndrome.
authors.affiliation: Department of Dermatology, Yale University, New Haven, CT, USA.|Department of Pathology, Yale University, New Haven, CT, USA.
authors.forename: Christine J
authors.initials: CJ
authors.lastname: Ko
authors.affiliation: Department of Dermatology, Yale University, New Haven, CT, USA.
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Antaya
authors.affiliation: Department of Dermatology, Yale University, New Haven, CT, USA.
authors.forename: Amanda
authors.initials: A
authors.lastname: Zubek
authors.affiliation: Department of Dermatology, Yale University, New Haven, CT, USA.
authors.forename: Brittany
authors.initials: B
authors.lastname: Craiglow
authors.affiliation: Department of Dermatology, Yale University, New Haven, CT, USA.
authors.forename: William
authors.initials: W
authors.lastname: Damsky
authors.affiliation: Department of Dermatology, Yale University, New Haven, CT, USA.
authors.forename: Anjela
authors.initials: A
authors.lastname: Galan
authors.affiliation: Department of Dermatology, Yale University, New Haven, CT, USA.|Department of Pathology, Yale University, New Haven, CT, USA.
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: McNiff
mesh_terms: D017667:Adipocytes / Q000378:metabolism / Q000473:pathology; D000328:Adult; D002648:Child; D020405:Dermis / Q000098:blood supply / Q000378:metabolism / Q000473:pathology; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008297:Male
keywords: Blaschkoid; Goltz syndrome; PORCN; focal dermal hypoplasia; telangiectasia