title: Incontinentia pigmenti in male patients.
abstract: BACKGROUND
  Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that is typified by distinctive cutaneous findings and often by abnormalities of teeth, hair, nails, eyes, musculoskeletal system, and central nervous system. The gene that is mutated in patients with IP has been mapped to Xq28 and encodes the NF-kappaB essential modulator, NEMO. Female patients with IP show functional mosaicism and cutaneous manifestations follow Blaschko's lines of ectodermal embryologic development. The condition is generally considered to be lethal in utero in male fetuses, suggesting that having some normal gene expression is critical for survival.
  
  
  METHODS
  We observed 9 boys with IP. All had normal karotypes and no apparent family history of IP. In 8 of these 9 patients, lesions were localized to one extremity at presentation. The diagnosis was confirmed by histopathologic examination that showed eosinophils within intraepidermal, multiloculated vesicles. One of the boys later developed dental and neurologic abnormalities.
  
  
  CONCLUSIONS
  The case series was small and the workup for these patients from different sites was not uniform.
  
  
  CONCLUSIONS
  Male individuals may show cutaneous and noncutaneous features of IP in a limited distribution that allows survival. Postzygotic mutation/somatic mosaicism is the likely mechanism. Given the potential sequelae associated with this condition, continuing follow-up of these patients is recommended.
authors.affiliation: Department of Dermatology, University of Colorado Health Sciences Center, USA.
authors.forename: Theresa R
authors.initials: TR
authors.lastname: Pacheco
authors.forename: Moise
authors.initials: M
authors.lastname: Levy
authors.forename: James C
authors.initials: JC
authors.lastname: Collyer
authors.forename: Nelida Pizzi
authors.initials: NP
authors.lastname: de Parra
authors.forename: Cristobal A
authors.initials: CA
authors.lastname: Parra
authors.forename: Marisel
authors.initials: M
authors.lastname: Garay
authors.forename: Gabriela
authors.initials: G
authors.lastname: Aprea
authors.forename: Silvia
authors.initials: S
authors.lastname: Moreno
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Mancini
authors.forename: Amy S
authors.initials: AS
authors.lastname: Paller
mesh_terms: D003937:Diagnosis, Differential; D004804:Eosinophils; D006801:Humans; D007184:Incontinentia Pigmenti / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009154:Mutation; D009421:Nervous System Malformations; D012867:Skin / Q000166:cytology; D014071:Tooth Abnormalities