Universal inherited melanodyschromatosis: a case of melanosis universalis hereditaria?

Rebora, Alfredo

doi:10.1001/archderm.125.10.1442

Cited by 9 publications

(11 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This condition has been described mostly in blacks, Hispanics, and oriental individuals, with both the sexes being affected equally [3]. Mode of inheritance is still debated upon since a number of inheritance patterns are recognised, mainly: (1) autosomal dominant (Chernosky et al 1971 [1], Rebora and Parodi 1989 [4], Debao and Ting 1991 [5]); (2) autosomal recessive with germ-line mosaicism (Wende and Baukus 1919, Pegum 1955) [3]. …”

Section: Introductionmentioning

confidence: 99%

Familial Progressive Hyperpigmentation: A Case Report

Yadav

Ghonasgi²,

Shah³

et al. 2012

Case Reports in Dentistry

View full text Add to dashboard Cite

Familial progressive hyperpigmentation (FPH) is a rare genodermatosis characterized by hyperpigmented patches in the skin and mucous membranes, present in early infancy, and increase in size and number with age. The genetic basis for FPH remains unknown. We report an unusual case of familial progressive hypermelanosis in a 17-year-old male patient with family history, who presented with a peculiar progressive oral pigmentation disorder. Diagnosis was confirmed by a series of hematological, biochemical, and histopathological investigations. Our paper stresses the need for the dentist to be aware of the systemic conditions that can also manifest in the oral cavity.

show abstract

Section: Introductionmentioning

confidence: 99%

Familial Progressive Hyperpigmentation: A Case Report

Yadav

Ghonasgi²,

Shah³

et al. 2012

Case Reports in Dentistry

View full text Add to dashboard Cite

show abstract

“…Melanosis universalis hereditaria [1], melanosis diffusa congenita [2,3], universal acquired melanosis [4,5], famil ial progressive hyperpigmentation [6], familial universal or diffuse melanosis [7][8][9], and generalized nevoid pigmenta tion [10] are different terms selected by various authors to define a rare genodermatosis characterized by generalized and diffuse hypermelanosis without systemic or develop mental defects. In all cases reported so far, excessive pig mentation of the skin, increasing in intensity with age, was seen from birth [2, 6.…”

Section: Introductionmentioning

confidence: 99%

“…In all cases reported so far, excessive pig mentation of the skin, increasing in intensity with age, was seen from birth [2, 6. 7] or early infancy [ 1,3,4,8,9). His tological examination revealed epidermal hypermelanosis, with a dispersed 'negroid' distribution of melanosomes within kératinocytes at electron microscopy [2,3,4,6].…”

Section: Introductionmentioning

confidence: 99%

Progressive Hyperpigmentation: Case Report with a Clinical, Histological, and Ultrastructural Investigation

et al. 1994

View full text Add to dashboard Cite

A clinical, histological and ultrastructural study of a 38-year-old woman with generalized progressive hyperpigmentation is reported. Hyperpigmentation started in early infancy, progressed during childhood and has increased to a dark bronze-brown color with ‘mottling’ in the last 8 years. Histology and electron microscopy revealed epidermal hypermelanosis and ‘negroid’ distribution of melanosomes in keratinocytes. In our family, autosomal dominant phenotype transmission with ‘variable expression’ is suggested. The literature on the entity has been reviewed. This case is another rare example of familial progressive hyperpigmentation.

show abstract

“…Keratinocytes had a larger number of melanin granules than normal and some of the granules displayed free melanosomes, but others within the phagosomes were displayed in a caucasoid pattern under electron microscopy. 16 For ultrastructure, hypomelanotic skin showed small melanosomes within melanosome complexes in keratinocytes, on the contrary, hypermelanotic skin showed large melanosomes distributed singly in keratinocytes. 12 In general, the histopathological features of this disease were similar in reports of different cases or families.…”

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.

View full text Add to dashboard Cite

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.

show abstract

Universal inherited melanodyschromatosis: a case of melanosis universalis hereditaria?

Cited by 9 publications

References 0 publications

Familial Progressive Hyperpigmentation: A Case Report

Familial Progressive Hyperpigmentation: A Case Report

Progressive Hyperpigmentation: Case Report with a Clinical, Histological, and Ultrastructural Investigation

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

Contact Info

Product

Resources

About