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

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. M...

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Autores principales: Clark, Jason A, Turner, Maria L, Howard, Lillian, Stanescu, Horia, Kleta, Robert, Kopp, Jeffrey B
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2724379/
https://www.ncbi.nlm.nih.gov/pubmed/19638218
http://dx.doi.org/10.1186/1471-5945-9-8
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author Clark, Jason A
Turner, Maria L
Howard, Lillian
Stanescu, Horia
Kleta, Robert
Kopp, Jeffrey B
author_facet Clark, Jason A
Turner, Maria L
Howard, Lillian
Stanescu, Horia
Kleta, Robert
Kopp, Jeffrey B
author_sort Clark, Jason A
collection PubMed
description 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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spelling pubmed-27243792009-08-11 Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity Clark, Jason A Turner, Maria L Howard, Lillian Stanescu, Horia Kleta, Robert Kopp, Jeffrey B BMC Dermatol Research Article 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. BioMed Central 2009-07-28 /pmc/articles/PMC2724379/ /pubmed/19638218 http://dx.doi.org/10.1186/1471-5945-9-8 Text en Copyright © 2009 Clark et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Clark, Jason A
Turner, Maria L
Howard, Lillian
Stanescu, Horia
Kleta, Robert
Kopp, Jeffrey B
Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity
title Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity
title_full Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity
title_fullStr Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity
title_full_unstemmed Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity
title_short Description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity
title_sort description of familial keloids in five pedigrees: evidence for autosomal dominant inheritance and phenotypic heterogeneity
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2724379/
https://www.ncbi.nlm.nih.gov/pubmed/19638218
http://dx.doi.org/10.1186/1471-5945-9-8
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