title: [McCune-Albright syndrome revealed by Blaschko-linear café-au-lait spots on the back].
abstract: BACKGROUND
  McCune-Albright syndrome is a rare sporadic disease defined by the triad of café-au-lait spots, fibrous dysplasia of bone and endocrine disorder. Diagnosis is classically confirmed by the presence of bone lesions or precocious puberty. We report a case of McCune-Albright syndrome diagnosed solely on the basis of the cutaneous signs.
  
  
  METHODS
  A four-year-old girl was seen in our clinic due to the presence of congenital café-au-lait spots on her back. These macules were irregular, with jagged borders, and were disposed in a broad band on the left shoulder and in the lumbar region, in a Blaschko-linear pattern. McCune-Albright syndrome was immediately suspected, despite the absence of other signs of the disease. Genetic assessment carried out a year and a half later confirmed the diagnosis, with arginine substitution at position 201 of Gs alpha protein. The child was still asymptomatic. Regular radiographic and endocrine assessments remained normal for three years until the sudden appearance at the age of seven years of precocious puberty and radiographic evidence of fibrous dysplasia of the right hand.
  
  
  CONCLUSIONS
  Café-au-lait spots are very common in the general population. An underlying genetic disorder should only be sought when such spots are multiple. However, in the case of McCune-Albright syndrome, it is the irregular borders and the Blaschko-linear arrangement of the spots in broad irregular bands that are pathognomonic, reflecting as they do the genetic mosaicism characteristic of this disease.
authors.affiliation: Service de dermatologie, hôpital civil, CHU de Strasbourg, 1, place de l'Hôpital, 67000 Strasbourg, France.
authors.forename: A-J
authors.initials: AJ
authors.lastname: Jung
authors.affiliation: Service de pédiatrie, hôpital de Hautepierre, CHU de Strasbourg, avenue Molière, 67000 Strasbourg, France.
authors.forename: S
authors.initials: S
authors.lastname: Soskin
authors.affiliation: Laboratoire de biologie moléculaire et hormonologie, CHU de Montpellier, 34295 Montpellier cedex, France.
authors.forename: F
authors.initials: F
authors.lastname: Paris
authors.affiliation: Service de dermatologie, hôpital civil, CHU de Strasbourg, 1, place de l'Hôpital, 67000 Strasbourg, France. Electronic address: dlipsker@gmail.com.
authors.forename: D
authors.initials: D
authors.lastname: Lipsker
mesh_terms: D001415:Back; D019080:Cafe-au-Lait Spots / Q000151:congenital / Q000473:pathology*; D002675:Child, Preschool; D002864:Chromogranins / Q000235:genetics; D005260:Female; D005357:Fibrous Dysplasia of Bone / Q000175:diagnosis; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics / Q000473:pathology*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics; D006801:Humans; D009154:Mutation; D011629:Puberty, Precocious / Q000209:etiology
chemical_list: D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs
keywords: Blaschko-linear; Blaschko-linéaire; Café-au-lait spot; McCune-Albright syndrome; Syndrome de McCune-Albright; Tache café-au-lait