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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

Keloid morphology. Keloid morphology varied within and across families. Shown is a single keloid on an earlobe and additional keloids on the cheek (A, family F), multiple keloids with areas of confluence in a severely affected individual (B, family D), classic "dumbbell" pattern keloid in the back (C, family H) and keloids on the upper back that have undergone spontaneous regression (D, family D). Certain families were more likely to show keloids in atypical locations such as extremities (E, keloids on the lateral thigh of an individual from family H) and axilla/groin (F, keloids in the axilla of an individual with hidradenitis from family F).
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Figure 2: Keloid morphology. Keloid morphology varied within and across families. Shown is a single keloid on an earlobe and additional keloids on the cheek (A, family F), multiple keloids with areas of confluence in a severely affected individual (B, family D), classic "dumbbell" pattern keloid in the back (C, family H) and keloids on the upper back that have undergone spontaneous regression (D, family D). Certain families were more likely to show keloids in atypical locations such as extremities (E, keloids on the lateral thigh of an individual from family H) and axilla/groin (F, keloids in the axilla of an individual with hidradenitis from family F).

Mentions: Keloid severity and morphology differed markedly within and among families. Lesions ranged from small earlobe nodules to multiple coalescent fibrous tumors with little intervening unaffected skin in a particular anatomic region (Figure 2A and 2B). Some lesions demonstrated the classic "butterfly" and "dumbbell" morphology, while others showed hyperpigmented geographic patches consistent with post-inflammatory hyperpigmentation at sites of reported regressed keloids (Figure 2C and 2D).


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)

Keloid morphology. Keloid morphology varied within and across families. Shown is a single keloid on an earlobe and additional keloids on the cheek (A, family F), multiple keloids with areas of confluence in a severely affected individual (B, family D), classic "dumbbell" pattern keloid in the back (C, family H) and keloids on the upper back that have undergone spontaneous regression (D, family D). Certain families were more likely to show keloids in atypical locations such as extremities (E, keloids on the lateral thigh of an individual from family H) and axilla/groin (F, keloids in the axilla of an individual with hidradenitis from family F).
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 2: Keloid morphology. Keloid morphology varied within and across families. Shown is a single keloid on an earlobe and additional keloids on the cheek (A, family F), multiple keloids with areas of confluence in a severely affected individual (B, family D), classic "dumbbell" pattern keloid in the back (C, family H) and keloids on the upper back that have undergone spontaneous regression (D, family D). Certain families were more likely to show keloids in atypical locations such as extremities (E, keloids on the lateral thigh of an individual from family H) and axilla/groin (F, keloids in the axilla of an individual with hidradenitis from family F).
Mentions: Keloid severity and morphology differed markedly within and among families. Lesions ranged from small earlobe nodules to multiple coalescent fibrous tumors with little intervening unaffected skin in a particular anatomic region (Figure 2A and 2B). Some lesions demonstrated the classic "butterfly" and "dumbbell" morphology, while others showed hyperpigmented geographic patches consistent with post-inflammatory hyperpigmentation at sites of reported regressed keloids (Figure 2C and 2D).

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