title: Spectrum of skeletal abnormalities in a complex malformation syndrome with "cutis tricolor" (Ruggieri-Happle syndrome).
abstract: BACKGROUND
  The term cutis tricolor describes the combination of congenital hyper- and hypopigmented skin lesions in close proximity to each other in a background of normal complexion. This phenomenon has been reported: (i) as a purely cutaneous trait; (ii) as a part of a complex malformation syndrome (Ruggieri-Happle syndrome - RHS); (iii) as a distinct type [cutis tricolor parvimaculata]; (iv) in association with other (e.g. vascular) skin disturbances.
  
  
  OBJECTIVE
  To delineate the spectrum of skeletal defects in cutis tricolor.
  
  
  METHODS
  Retrospective and prospective analysis of skeletal surveys in 14 subjects (eight men; six women; aged 2-28 years) with cutis tricolor [4 purely cutaneous trait; 10 syndromic (RHS)].
  
  
  RESULTS
  Bone abnormalities were recorded in 71.4% (10/14) of patients [100% (10/10) of cases with (other-than-skeletal) extra-cutaneous manifestations vs. null (0/4) in cases with purely cutaneous traits] and included overall small skull (n = 6); prognathism (n = 6); 'J'-shaped pituitary fossa (n = 1); absence of atlas posterior arch (n = 3); frontal bossing (n = 6); scoliosis (n = 9) with kyphosis (n = 6) and/or lordosis (n = 6); vertebral (n = 9) and ribs (n = 4) defects. Negative ZFHX1B gene analyses excluded overlaps with Mowat-Wilson syndrome.
  
  
  CONCLUSIONS
  Cutis tricolor may be a marker of underlying skeletal involvement particularly in subjects with a complex syndromic (RHS) phenotype.
authors.affiliation: Department of Formative Processes, University of Catania, Italy. m.ruggieri@unict.it
authors.forename: Martino
authors.initials: M
authors.lastname: Ruggieri
authors.forename: Mario
authors.initials: M
authors.lastname: Roggini
authors.forename: Ingo
authors.initials: I
authors.lastname: Kennerknecht
authors.forename: Agata
authors.initials: A
authors.lastname: Polizzi
authors.forename: Angela
authors.initials: A
authors.lastname: Distefano
authors.forename: Vito
authors.initials: V
authors.lastname: Pavone
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology; D000293:Adolescent; D000328:Adult; D015415:Biomarkers; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D010859:Pigmentation Disorders / Q000151:congenital* / Q000473:pathology; D011446:Prospective Studies; D011859:Radiography; D012189:Retrospective Studies; D013577:Syndrome; D055815:Young Adult
chemical_list: D015415:Biomarkers