Extensive and Progressing Congenital Dermal Melanocytosis Leading to Diagnosis of <scp>GM</scp>1 Gangliosidosis

Vedak, B A Priyanka; Sells, Ryan E.; Souza, Aieska de; Hoang, Mai P.; Kroshinsky, Daniela

doi:10.1111/pde.12666

Cited by 5 publications

(4 citation statements)

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“…Nevertheless, it might also be seen with spinal dysraphism, cleft lip/palate and in the context of phacomatosis pigmentovascularis, accompanying vascular malformations and several forms of epidermal and other dermal melanocytic proliferations . In addition, the generalized and progressive forms of MS have been shown to be associated with inborn errors of metabolism such as inherited storage diseases . These lesions with underlying disorders may be more heavily pigmented .…”

Section: Classical Variants Of Dermal Melanocytosesmentioning

confidence: 99%

“…53,60 In addition, the generalized and progressive forms of MS have been shown to be associated with inborn errors of metabolism such as inherited storage diseases. 52,53,[66][67][68][69] These lesions with underlying disorders may be more heavily pigmented. 52 Hence, extensive or multiple MSs, with permanent/progressive course, require special attention, 60 to provide early diagnosis of storage diseases and prevent irreversible organ damage.…”

Section: Mongolian Spotmentioning

confidence: 99%

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The spectrum of benign dermal dendritic melanocytic proliferations

Baykal

Yılmaz

Sun

et al. 2019

Acad Dermatol Venereol

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Dermal melanocytoses (DMs) comprise a heterogeneous group of benign lesions, located on skin and mucous membranes, characterized by dendritic melanocytes in the dermis. Although they share common histopathological features, some variants may present only as bluish or grey patches, some only as papules/nodules/plaques and others may show combination of all of these lesions. Despite the fact that blue naevus (BN) is typically characterized with papulonodular lesions, its variants may show all of the aforementioned presentations. Mongolian spot, naevus of Ota and naevus of Ito are patchy DMs distinguished by their specific localizations. Apart from these classical forms, many atypical variants without unique clinicopathological characteristics have been described in the literature making the nomenclature of DMs more complicated. However, congenital dermal melanocytosis and acquired dermal melanocytosis seem to be crucial umbrella terms that encompass all patchy DMs in atypical locations. Papules or subcutaneous nodules on patchy lesions and association of epidermal pigmentation presenting as brownish patches may be encountered as rare features of DMs. On the other hand, delayed‐onset subcutaneous nodules may be typical presentations of melanoma in patchy DMs; therefore, they deserve special attention. Large plaque‐type BN with subcutaneous cellular nodules is a newly described entity, harbouring clinical features of various DMs together and has a high risk of melanoma. The whole spectrum of dermal dendritic melanocytic proliferations is discussed including novelties and controversial issues.

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Section: Classical Variants Of Dermal Melanocytosesmentioning

confidence: 99%

Section: Mongolian Spotmentioning

confidence: 99%

The spectrum of benign dermal dendritic melanocytic proliferations

Baykal

Yılmaz

Sun

et al. 2019

Acad Dermatol Venereol

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“…While most Mongolian spots are benign and not associated with any systemic disorders,[ 1 ] they can indicate inborn errors of metabolism when they are irregular, extensive, persistent or progressive. [ 2 3 ] Common diseases associated with such Mongolian spots include lysosomal storage disorders such as GM1-gangliosidosis, Hurler syndrome, Hunter syndrome, and Niemann-Pick disease [ Figure 2 ]. [ 4 ] It is proposed that abnormal accumulated metabolites in these disorders bind to tyrosine kinase receptors, resulting in increased nerve growth factor.…”

mentioning

confidence: 99%

“…Extensive and progressive Mongolian spots can lead to the diagnosis of lysosomal storage disorders in absence of systemic features. [ 2 3 ]…”

mentioning

confidence: 99%