Hereditary congenital hypopigmented and hyperpigmented macules (Westerhof syndrome) in two siblings

Vélez, Antonio; Salido, R.; Amorrich-Campos, V; Garnacho‐Saucedo, Gloria; Álvarez-López, María Ángeles; Galán, Manuel; Moreno‐Giménez, J.C.

doi:10.1111/j.1365-2133.2009.09428.x

Cited by 10 publications

(12 citation statements)

References 9 publications

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“…Two yellow race siblings with Westerhof syndrome have also been reported. 13 According to a recent report, a two-year-old Chinese girl with FPHH also had mild mental retardation, frequent epileptic seizures, impaired temperature regulation (hyperthermia) and increased susceptibility to infection. 14 Two unrelated Caucasian families had six members affected with FPHH who had unusually sparse lateral eyebrows, two of whom had cancer.…”

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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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: 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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“…They occur on any part of the body, without mucosal involvement. Histopathological examination shows a decreased number of epidermal melanocytes in the hypopigmented macules, and an increased number in the hyperpigmented macules 17 . According to the original report by Westerhof et al.…”

Section: Infancy and Childhood Dyschromatosesmentioning

confidence: 96%

“…The skin lesions may be an isolated finding, or may be associated with systemic conditions (e.g. growth retardation and mental deficiency) 16,17 …”

Section: Infancy and Childhood Dyschromatosesmentioning

confidence: 99%

“…Histopathological examination shows a decreased number of epidermal melanocytes in the hypopigmented macules, and an increased number in the hyperpigmented macules. 17 According to the original report by Westerhof et al, 16 the most probable mode of inheritance is autosomal dominant. The skin lesions may be an isolated finding, or may be associated with systemic conditions (e.g.…”

Section: Infancy and Childhood Dyschromatosesmentioning

confidence: 99%

“…growth retardation and mental deficiency). 16,17 Cutis tricolour is the term introduced by Happle et al in 1997 18 to describe the coexistence of congenital hyper-and hypopigmented lesions in close proximity to each other on a background of normal skin. These dichotomous pigmentary lesions most likely represent a didymosis (twin spotting).…”

Section: Infancy and Childhood Dyschromatosesmentioning

confidence: 99%

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Infancy- and childhood-onset dyschromatoses

Vachiramon

Thadanipon

Chanprapaph

2011

Clinical and Experimental Dermatology

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SummaryThe dyschromatoses are a group of pigmentary disorders characterized clinically by mixed and often guttate hypopigmented and hyperpigmented lesions. There are many conditions that present with dyschromatosis, including genodermatoses, inflammatory skin diseases, infections, drug and chemical use, and nutritional disorders. Some conditions have extracutaneous features. Poikiloderma (a combination of hypo-and hyperpigmentation with telangiectasia and atrophy) must be excluded. In this article, we describe the dyschromatoses typically presenting in infancy and childhood, most of which are genodermatoses. The approach we have taken in classifying them is based on organ involvement. We hope this article will serve as a guide for dermatologists to the recognition of these uncommon conditions.

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Dyschromatosis

Samuelov¹,

Sprecher²

2019

Harper's Textbook of Pediatric Dermatology

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Hereditary congenital hypopigmented and hyperpigmented macules (Westerhof syndrome) in two siblings

Cited by 10 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

Infancy- and childhood-onset dyschromatoses

Dyschromatosis

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