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Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations in KITLG.
Clin Exp Dermatol. 2015 Dec; 40(8):860-4.CE

Abstract

BACKGROUND

Familial progressive hyper- and hypopigmentation (FPHH) is an autosomal dominant skin condition presenting in childhood with generalized macular dyspigmentation, usually reported in patients of East Asian origin. It overlaps phenotypically with other dyschromatoses, but can now be distinguished by mutations in the KIT ligand gene (KITLG).

AIM

We report two unrelated white families with similar phenotypic presentations of FPHH developing in early childhood in several generations.

METHODS

Sanger sequencing of the exons and flanking introns of KITLG was performed.

RESULTS

This identified a new heterozygous missense mutation in each family (p.Thr34Asn and p.Val37Gly, respectively). Of the six affected individuals examined by us, two had cancer: a 62-year-old man in family 1 had developed two primary melanomas and a pharyngeal carcinoma, and a 42-year-old woman in family 2 had developed thyroid carcinoma. All had unusually sparse lateral eyebrows, a finding not previously reported in this condition.

CONCLUSIONS

We summarize the genetic spectrum of the dyschromatoses and discuss a possible increased risk of malignancy in FPHH.

Authors+Show Affiliations

Department of Dermatology, Birmingham Children's Hospital, NHS Foundation Trust, Birmingham, UK.Department of Dermatology, Solihull Hospital, Heart of England NHS Foundation Trust, Solihull, UK.Department of Clinical Genetics, Birmingham Women's Hospital, NHS Foundation Trust, Birmingham, UK.Department of Dermatology, Solihull Hospital, Heart of England NHS Foundation Trust, Solihull, UK.Genetic Skin Disease Group, St John's Institute of Dermatology, King's College London, London, UK.Department of Dermatology, Solihull Hospital, Heart of England NHS Foundation Trust, Solihull, UK.Department of Dermatology, Birmingham Children's Hospital, NHS Foundation Trust, Birmingham, UK.Department of Clinical Genetics, Birmingham Women's Hospital, NHS Foundation Trust, Birmingham, UK.Genetic Skin Disease Group, St John's Institute of Dermatology, King's College London, London, UK.Department of Dermatology, Birmingham Children's Hospital, NHS Foundation Trust, Birmingham, UK.Genetic Skin Disease Group, St John's Institute of Dermatology, King's College London, London, UK.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

26179221

Citation

Cuell, A, et al. "Familial Progressive Hyper- and Hypopigmentation and Malignancy in Two Families With New Mutations in KITLG." Clinical and Experimental Dermatology, vol. 40, no. 8, 2015, pp. 860-4.
Cuell A, Bansal N, Cole T, et al. Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations in KITLG. Clin Exp Dermatol. 2015;40(8):860-4.
Cuell, A., Bansal, N., Cole, T., Kaur, M. R., Lee, J., Loffeld, A., Moss, C., O'Donnell, M., Takeichi, T., Thind, C. K., & McGrath, J. A. (2015). Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations in KITLG. Clinical and Experimental Dermatology, 40(8), 860-4. https://doi.org/10.1111/ced.12702
Cuell A, et al. Familial Progressive Hyper- and Hypopigmentation and Malignancy in Two Families With New Mutations in KITLG. Clin Exp Dermatol. 2015;40(8):860-4. PubMed PMID: 26179221.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations in KITLG. AU - Cuell,A, AU - Bansal,N, AU - Cole,T, AU - Kaur,M R, AU - Lee,J, AU - Loffeld,A, AU - Moss,C, AU - O'Donnell,M, AU - Takeichi,T, AU - Thind,C K, AU - McGrath,J A, Y1 - 2015/07/14/ PY - 2015/01/20/accepted PY - 2015/7/17/entrez PY - 2015/7/17/pubmed PY - 2016/9/9/medline SP - 860 EP - 4 JF - Clinical and experimental dermatology JO - Clin Exp Dermatol VL - 40 IS - 8 N2 - BACKGROUND: Familial progressive hyper- and hypopigmentation (FPHH) is an autosomal dominant skin condition presenting in childhood with generalized macular dyspigmentation, usually reported in patients of East Asian origin. It overlaps phenotypically with other dyschromatoses, but can now be distinguished by mutations in the KIT ligand gene (KITLG). AIM: We report two unrelated white families with similar phenotypic presentations of FPHH developing in early childhood in several generations. METHODS: Sanger sequencing of the exons and flanking introns of KITLG was performed. RESULTS: This identified a new heterozygous missense mutation in each family (p.Thr34Asn and p.Val37Gly, respectively). Of the six affected individuals examined by us, two had cancer: a 62-year-old man in family 1 had developed two primary melanomas and a pharyngeal carcinoma, and a 42-year-old woman in family 2 had developed thyroid carcinoma. All had unusually sparse lateral eyebrows, a finding not previously reported in this condition. CONCLUSIONS: We summarize the genetic spectrum of the dyschromatoses and discuss a possible increased risk of malignancy in FPHH. SN - 1365-2230 UR - https://wwww.unboundmedicine.com/medline/citation/26179221/Familial_progressive_hyper__and_hypopigmentation_and_malignancy_in_two_families_with_new_mutations_in_KITLG_ L2 - https://doi.org/10.1111/ced.12702 DB - PRIME DP - Unbound Medicine ER -