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Open Access Highly Accessed Research article

Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity

Jason A Clark1, Maria L Turner2, Lillian Howard1, Horia Stanescu3, Robert Kleta3 and Jeffrey B Kopp1*

Author Affiliations

1 Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA

2 Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

3 Department of Medicine, University College London, UK

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BMC Dermatology 2009, 9:8  doi:10.1186/1471-5945-9-8

Published: 28 July 2009

Abstract

Background

Familial keloids have been reported, having either autosomal dominant or autosomal recessive inheritance. We wished to determine the inheritance pattern and phenotype of keloids among multigenerational families, as a prelude to a positional mapping strategy to identify candidate genes.

Methods

We studied three African American families, one Afro-Caribbean family and one Asian-American family. Phenotyping including assessing all patients for the presence, distribution, and appearance of keloids, together with the timing of keloid onset and provocative factors. The clinical trial was registered at clinicaltrials.gov (NCT 00005802).

Results

Age of keloid onset varied considerably within families, but commonly occurred by the second decade. The fraction of affected individuals was 38%, 45%, 62%, 67% and 73% among the five families respectively. Keloid severity and morphology differed within and between families. A novel finding is that certain families manifest keloids in distinct locations, with one family showing an excess of extremity keloids and two families showing an excess of axilla-groin keloids.

Conclusion

Familial keloids appear to most commonly manifest autosomal dominant or semidominant inheritance, and there may be familial patterns of keloid distribution.