Familial urticaria pigmentosa: Report of a family and review of the role of KIT mutations

Nicole M. Fett, Joyce Teng, B. Jack Longley

Research output: Contribution to journalReview article

14 Scopus citations

Abstract

Cutaneous mastocytosis is a rare clinically heterogeneous disorder characterized by mast cell infiltration. Mastocytosis affects both children and adults and has been reported to occur in families. Recent data suggest that mutations in the c-kit proto-oncogene are causative of mastocytosis not only in adults but in children and familial cases as well; however, mutation analysis other than D816V is not widely available, making detection of causative mutations problematic. We present the case of a 33-year-old man with a 30-year history of persistent urticaria pigmentosa and his 2 affected children. Sequencing of KIT exons 8, 10, 11, and 17 was carried out on a skin biopsy specimen and mucosal swabs of the incident case and was negative for known KIT mutations. Additional work-up was deferred by the family. Presentation of this familial case of urticaria pigmentosa demonstrates the complexity of genetic evaluation in clinical settings. It suggests that mutations other than those reported in exons 8, 10, 11, and 17 may also result in familial mastocytosis. Presentation of this case also allows for review of the mechanism of action of causative KIT mutations and the recent literature supporting KIT mutations in childhood and familial mastocytosis.

Original languageEnglish (US)
Pages (from-to)113-116
Number of pages4
JournalAmerican Journal of Dermatopathology
Volume35
Issue number1
DOIs
StatePublished - Feb 1 2013

Keywords

  • KIT tyrosine kinase
  • Mastocytosis
  • Urticarial pigmentosa
  • c-kit protooncogene

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Dermatology

Fingerprint Dive into the research topics of 'Familial urticaria pigmentosa: Report of a family and review of the role of KIT mutations'. Together they form a unique fingerprint.

  • Cite this