title: Multiple basal cell carcinomas in a 38-year-old woman with Goltz syndrome.
abstract: BACKGROUND
  Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare genetic multisystem disorder characterized by hypoplasia of ectodermally and mesodermally derived tissues. No cases of development of basal cell carcinomas in patients affected by FDH have previously been reported.
  
  
  METHODS
  We followed a 38-year-old woman with FDH who developed, within a period of 3 years, 14 atypical pigmented lesions. All of them were surgically removed and pathologically assessed. In 2007, this patient underwent molecular examination with the multiple amplifiable probe hybridization technique.
  
  
  RESULTS
  Histopathological examination showed 6 basal cell carcinomas, 2 basaloid proliferations, 2 tumours of follicular infundibulum and 2 solar lentigines. Molecular examination showed that only 1 copy of the coding exons of PORCN and EBP, respectively, was present, reflecting a microdeletion of one of her X chromosomes, eliminating at least the neighbouring genes PORCN and EBP.
  
  
  CONCLUSIONS
  No other cases of association between FDH and multiple cutaneous basal cell carcinomas have previously been reported, so it could be interesting to take into consideration this aspect in the molecular assessment of these patients to improve information on the disease. This is a single case experience, and especially the molecular results need confirmation and validation by other groups involved in the diagnosis.
authors.affiliation: Department of Internal Medicine, Oldness and Nephrologic Diseases, Dermatology, University of Bologna, Bologna, Italy. annalisa.patrizi@unibo.it
authors.forename: Annalisa
authors.initials: A
authors.lastname: Patrizi
authors.forename: Michela
authors.initials: M
authors.lastname: Tabanelli
authors.forename: Karl-Heinz
authors.initials: KH
authors.lastname: Grzeschik
authors.forename: Cosimo
authors.initials: C
authors.lastname: Misciali
authors.forename: Iria
authors.initials: I
authors.lastname: Neri
authors.forename: Rudolf
authors.initials: R
authors.lastname: Happle
mesh_terms: D000217:Acyltransferases; D000328:Adult; D002280:Basal Cell Carcinoma / Q000150:complications / Q000235:genetics / Q000473:pathology*; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics; D005091:Exons; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006223:Hamartoma Syndrome, Multiple / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007911:Lentigo / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000601:surgery; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics / Q000473:pathology*; D013251:Steroid Isomerases / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D008565:Membrane Proteins; D000217:Acyltransferases; C491188:PORCN protein, human; D013251:Steroid Isomerases; C090445:EBP protein, human