title: Lipoatrophic panniculitis and chromosome 10 abnormality.
abstract: We report a 3-year-old girl with a 12-month history of an acquired lipoatrophy that was rapidly progressive. Her karyotype revealed additional material on chromosome 10 at the 10q26 location. The human pancreatic lipase gene maps to chromosome 10q24-26, and we postulate an association. Lipoatrophic panniculitis describes the panniculitides in which atrophy is a feature. The classification of these diseases is confusing in the literature and the precise diagnosis still relies on a combination of clinical and laboratory assessment. Our finding of a chromosomal abnormality on chromosome 10q26 has not been described previously.
authors.affiliation: Departments of Dermatology, Histopathology and Cytogenetics, Great Ormond Street Hospital for Children, London WC1N 3JH, U.K.
authors.forename: A
authors.initials: A
authors.lastname: Martinez
authors.forename: M
authors.initials: M
authors.lastname: Malone
authors.forename: P
authors.initials: P
authors.lastname: Hoeger
authors.forename: R
authors.initials: R
authors.lastname: Palmer
authors.forename: J I
authors.initials: JI
authors.lastname: Harper
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008049:Lipase / Q000235:genetics; D008060:Lipodystrophy / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D015434:Panniculitis / Q000150:complications / Q000235:genetics*; D014314:Trisomy
chemical_list: D008049:Lipase