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

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).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.Familial keloids appear to most commonly manifest autosomal dominant or semidominant inheritance, and there may be familial patterns of keloid distribution.Keloids represent an exuberant wound healing response that may occur spontaneously or following cutaneous injury. Worldwide keloid prevalence varies by geographic ancestry from 0.09% in Great Britain to 16% in the Congo [1]. Although keloid prevalence in United States is not well documented, darker-skinned individuals and those of African descent seem to be disproportionately affected [2]. Keloid scars can impair physical and psychological quality of life [3]. Available therapies have low efficacy and/or significant morbidity. The International Clinical Recommendations on Scar Management list a variety of therapeutic approaches including triamcinolone, surgery, radiation, and combination therapy [4]. A recent prospective study found greater than 70% recurrence at a mean follow up of 19 months for surgical excision followed by irradiation [5]. Surgical resection with concomitant triamcinolone injection, is followed by a recurrence rate of up to 20% and the recurrent lesion is often worse than the original lesion [6].