Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations in<i>KITLG</i>

Cuell, A.; Bansal, Nitin; Cole, Trevor; Kaur, Manjit; Lee, J.; Loffeld, A.; Moss, Celia; O’Donnell, Michael A.; Takeichi, Takuya; Thind, C. K.; McGrath, John A.

doi:10.1111/ced.12702

Cited by 17 publications

(23 citation statements)

References 9 publications

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“…3 Two heterozygous missense mutations were found in two unrelated Caucasian families with FPHH. 15 This study confirmed that the gene underlying FPHH is the KITLG gene, which has also been demonstrated in separate studies. 4,5 …”

Section: Discussionsupporting

confidence: 87%

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Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity

Xiao-Kai

Yue-Xi

et al. 2017

An. Bras. Dermatol.

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BackgroundFamilial progressive hyper- and hypopigmentation (FPHH) is a rare genodermatosis that is characterized by diffuse hyper- and hypopigmented spots on the skin and mucous membranes. It is caused by a pathogenic mutation of the KITLG gene.ObjectivesTo investigate the clinical features and mutation of the KITLG gene in a Chinese family with FPHH.MethodsHistopathological and immunohistochemical analysis of lesions from the proband was performed. The KITLG gene was screened for the presence of mutations.ResultsA Chinese family containing 14 individuals with FPHH was described, and the proband was a 5-year-old girl showing diffuse hyper- and hypopigmented lesions on her extremities and trunk. Histopathological and immunohistochemical staining for S100 and HMB45 of skin biopsy specimens from the hyperpigmented areas showed a striking increase in melanin throughout the epidermis, especially in the basal cell layer, and staining of hypopigmented area specimens displayed lower levels of melanin in the epidermis. Mutation analysis of the KITLG gene was performed, but no mutation was found.Study limitationsThe new pathogenic gene was not found.ConclusionA family with FPHH was described. Analysis revealed that its members did not have any mutations of the KITLG gene, which provided evidence for genetic heterogeneity of this genodermatosis.

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Section: Discussionsupporting

confidence: 87%

“…14 Two unrelated Caucasian families had six members affected with FPHH who had unusually sparse lateral eyebrows, two of whom had cancer. 15 …”

Section: Discussionmentioning

confidence: 99%

Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity

Xiao-Kai

Yue-Xi

et al. 2017

An. Bras. Dermatol.

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“…KITLG mutation is a rare cause of WS, with only one case having been reported (Zazo Seco et al, 2015). KITLG is also associated with another pigmentary disorder: familial progressive hyper-and hypopigmentation (FPHH, OMIM #145250; Amyere et al, 2011;Cuell et al, 2015;Wang et al, 2009). Here, we report the second case of WS2 caused by a KITLG mutation with a rare manifestation of pigmented macules.…”

mentioning

confidence: 90%

Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation

Ogawa

Kono

Akiyama

2017

Pigment Cell Melanoma Res

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“…To our knowledge, until now only five different missense KITLG mutations (Val33Ala, Thr34Pro, Thr34Asn, Asn36Ser and Val37Gly) have been reported to cause FPHH . Notably, Asn36Ser was also shown to be responsible for a distinct phenotype called FPH .…”

mentioning

confidence: 99%

Report of a child with sporadic familial progressive hyper- and hypopigmentation caused by a novelKITLGmutation

et al. 2016

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Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations inKITLG

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

Cited by 17 publications

References 9 publications

Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity

Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity

Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation

Report of a child with sporadic familial progressive hyper- and hypopigmentation caused by a novelKITLGmutation

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