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

Clark JA, Turner ML, Howard L, Stanescu H, Kleta R, Kopp JB - BMC Dermatol. (2009)

Bottom Line: We studied three African American families, one Afro-Caribbean family and one Asian-American family.The fraction of affected individuals was 38%, 45%, 62%, 67% and 73% among the five families respectively.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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA. jac380@gmail.com

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.

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Related in: MedlinePlus

Pedigrees of five families with familial keloids. Pedigrees for the five keloid families (D, F, H, K, and R) are shown. Notable features include the following: vertical transmission without consanguinity, male-to-male transmission, and approximately equal numbers of affected and unaffected individuals. Taken together, these findings support dominant or semidominant inheritance. Generations available for study are numbered with Roman numerals. Black symbols indicate keloids or keloids plus hypertrophic scar; gray symbols indicate hypertrophic scar only. Arrows denote probands. Question marks indicate individuals who were not available for study; this includes two individuals in the numbered generations. A dot identifies the three obligate carriers, assuming autosomal dominant inheritance.
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Figure 1: Pedigrees of five families with familial keloids. Pedigrees for the five keloid families (D, F, H, K, and R) are shown. Notable features include the following: vertical transmission without consanguinity, male-to-male transmission, and approximately equal numbers of affected and unaffected individuals. Taken together, these findings support dominant or semidominant inheritance. Generations available for study are numbered with Roman numerals. Black symbols indicate keloids or keloids plus hypertrophic scar; gray symbols indicate hypertrophic scar only. Arrows denote probands. Question marks indicate individuals who were not available for study; this includes two individuals in the numbered generations. A dot identifies the three obligate carriers, assuming autosomal dominant inheritance.

Mentions: We prepared pedigrees for the five families (Figure 1). All family members are shown in these pedigrees including 2 subjects whose clinical status is unknown and 23 children <18 yrs old. We also prepared a tabulation of family members with keloids, hypertrophic scars, and neither skin disease (Table 1). Keloids frequently appear for the first time during adolescence and it is not possible to reliably determine keloid phenotype in children. Therefore, we excluded all individuals <18 yrs from Table 1 as the inclusion of these individuals would likely mis-categorize some children as unaffected who will manifest keloids later in life. In cases where individuals were deceased prior to study onset, keloid status was assigned based on report by family members. When possible, multiple family members were contacted to confirm phenotype. When family members did not know the phenotype of a deceased relative, these individuals were characterized as having unknown keloid status. The number of generations affected was determined based on the first generation manifesting keloids or an obligate carrier and the last generation with at least one individual over 18 years of age with or without keloids. Tabulations were calculated across affected generations.


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

Clark JA, Turner ML, Howard L, Stanescu H, Kleta R, Kopp JB - BMC Dermatol. (2009)

Pedigrees of five families with familial keloids. Pedigrees for the five keloid families (D, F, H, K, and R) are shown. Notable features include the following: vertical transmission without consanguinity, male-to-male transmission, and approximately equal numbers of affected and unaffected individuals. Taken together, these findings support dominant or semidominant inheritance. Generations available for study are numbered with Roman numerals. Black symbols indicate keloids or keloids plus hypertrophic scar; gray symbols indicate hypertrophic scar only. Arrows denote probands. Question marks indicate individuals who were not available for study; this includes two individuals in the numbered generations. A dot identifies the three obligate carriers, assuming autosomal dominant inheritance.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2724379&req=5

Figure 1: Pedigrees of five families with familial keloids. Pedigrees for the five keloid families (D, F, H, K, and R) are shown. Notable features include the following: vertical transmission without consanguinity, male-to-male transmission, and approximately equal numbers of affected and unaffected individuals. Taken together, these findings support dominant or semidominant inheritance. Generations available for study are numbered with Roman numerals. Black symbols indicate keloids or keloids plus hypertrophic scar; gray symbols indicate hypertrophic scar only. Arrows denote probands. Question marks indicate individuals who were not available for study; this includes two individuals in the numbered generations. A dot identifies the three obligate carriers, assuming autosomal dominant inheritance.
Mentions: We prepared pedigrees for the five families (Figure 1). All family members are shown in these pedigrees including 2 subjects whose clinical status is unknown and 23 children <18 yrs old. We also prepared a tabulation of family members with keloids, hypertrophic scars, and neither skin disease (Table 1). Keloids frequently appear for the first time during adolescence and it is not possible to reliably determine keloid phenotype in children. Therefore, we excluded all individuals <18 yrs from Table 1 as the inclusion of these individuals would likely mis-categorize some children as unaffected who will manifest keloids later in life. In cases where individuals were deceased prior to study onset, keloid status was assigned based on report by family members. When possible, multiple family members were contacted to confirm phenotype. When family members did not know the phenotype of a deceased relative, these individuals were characterized as having unknown keloid status. The number of generations affected was determined based on the first generation manifesting keloids or an obligate carrier and the last generation with at least one individual over 18 years of age with or without keloids. Tabulations were calculated across affected generations.

Bottom Line: We studied three African American families, one Afro-Caribbean family and one Asian-American family.The fraction of affected individuals was 38%, 45%, 62%, 67% and 73% among the five families respectively.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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA. jac380@gmail.com

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.

Show MeSH
Related in: MedlinePlus