title: Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity.
abstract: BACKGROUND
  Phylloid hypomelanosis is a rare neurocutaneous syndrome characterized by a pattern of hypopigmentation consisting of leaflike or oblong macules reminiscent of floral ornaments. Associated extracutaneous anomalies include cerebral, ocular, and skeletal defects. Recently it has been suggested that this phenotype originates from mosaic partial or complete trisomy 13. We report clinical and cytogenetic data for 2 cases.
  
  
  METHODS
  A bizarre pattern of multiple leaflike macules was noted in 2 girls with mental deficiency. In patient 1, additional anomalies included syndactyly, clinodactyly, trichomegaly of the eyelashes, low frontal hairline, and several pale pink telangiectatic macules. In patient 2, epileptic seizures, dental malposition, oligodontia, preauricular fistulas, scoliosis, tethered cord, and syringomyelia were noted. A diagnosis of phylloid hypomelanosis was made in both patients. In both patients, blood lymphocytes showed a normal karyotype 46,XX; however, fibroblasts derived from lesional skin demonstrated tetrasomy of chromosome 13q21-qter in patient 1 and trisomy of 13q22-qter in patient 2.
  
  
  CONCLUSIONS
  These 2 cases lend further support to the concept that phylloid hypomelanosis is a distinct clinicogenetic entity that should no longer be confused with pigmentary mosaicism of the Ito type. From a comparison of our cytogenetic findings with those documented in previous articles, we infer that phylloid hypomelanosis is most likely related to the 13q region.
authors.affiliation: Department of Dermatology, University of Barcelona, Spain.
authors.forename: M Antonia
authors.initials: MA
authors.lastname: González-Enseñat
authors.forename: Asunción
authors.initials: A
authors.lastname: Vicente
authors.forename: Pilar
authors.initials: P
authors.lastname: Poo
authors.forename: Vicenç
authors.initials: V
authors.lastname: Catalá
authors.forename: M
authors.initials: M
authors.lastname: Mar Pérez-Iribarne
authors.forename: Carme
authors.initials: C
authors.lastname: Fuster
authors.forename: Esther
authors.initials: E
authors.lastname: Geán
authors.forename: Rudolf
authors.initials: R
authors.lastname: Happle
mesh_terms: D000293:Adolescent; D002648:Child; D002882:Chromosomes, Human, Pair 13; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017496:Hypopigmentation / Q000175:diagnosis / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D009030:Mosaicism; D010641:Phenotype; D012880:Skin Pigmentation / Q000235:genetics; D014314:Trisomy / Q000235:genetics*