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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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Age of keloid onset. A) Ages of onset of all keloids in each affected individual are shown. B) Ages of onset of first keloid in each affected individual are shown. With both analytic approaches, the modal age of onset was 10–19 years.
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Figure 4: Age of keloid onset. A) Ages of onset of all keloids in each affected individual are shown. B) Ages of onset of first keloid in each affected individual are shown. With both analytic approaches, the modal age of onset was 10–19 years.

Mentions: The age of keloid onset was obtained by history. The age reported for first keloid varied from 5 to 52 years, although most subjects examined (50%) reported onset of their first keloid between 10 and 19 years (Figure 4A). Similarly when individuals with multiple keloids were asked to recall onset age of each lesion, participants reported the largest number of keloids (46%) appearing between 10 and 19 years (Figure 4B). There were no differences among families in age of keloid appearance (p = 0.55). Of 23 subjects under 18 years of age at study end date, 14 were between 0 and 9 years of age; 9 were between 10 and 17 years. Of the nine in the latter group, four had a parent with keloids. Of the 23 subjects <18 years of age none described keloids and five were examined. None had keloids on physical exam; one, age 17, had hypertrophic scars (Figure 1, Pedigree R).


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)

Age of keloid onset. A) Ages of onset of all keloids in each affected individual are shown. B) Ages of onset of first keloid in each affected individual are shown. With both analytic approaches, the modal age of onset was 10–19 years.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 4: Age of keloid onset. A) Ages of onset of all keloids in each affected individual are shown. B) Ages of onset of first keloid in each affected individual are shown. With both analytic approaches, the modal age of onset was 10–19 years.
Mentions: The age of keloid onset was obtained by history. The age reported for first keloid varied from 5 to 52 years, although most subjects examined (50%) reported onset of their first keloid between 10 and 19 years (Figure 4A). Similarly when individuals with multiple keloids were asked to recall onset age of each lesion, participants reported the largest number of keloids (46%) appearing between 10 and 19 years (Figure 4B). There were no differences among families in age of keloid appearance (p = 0.55). Of 23 subjects under 18 years of age at study end date, 14 were between 0 and 9 years of age; 9 were between 10 and 17 years. Of the nine in the latter group, four had a parent with keloids. Of the 23 subjects <18 years of age none described keloids and five were examined. None had keloids on physical exam; one, age 17, had hypertrophic scars (Figure 1, Pedigree R).

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