Molecular basis and inheritance patterns of amyloidosis cutis dyschromica

Chiu, Frank Po‐Chao; Wessagowit, Vesarat; Çakmak, Muharrem; Doolan, Brent J; Kootiratrakarn, Tanawatt; Chaowalit, Prapaipit; Bunnag, T; Simpson, Michael A.; McGrath, John A.; Onoufriadis, Alexandros

doi:10.1111/ced.14183

Cited by 7 publications

(6 citation statements)

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“…The data related to gene mutation and clinical manifestation are summarized in Table 1 (2,(5)(6)(7)(8). To our best knowledge, there has been no analysis yet of genotype-phenotype correlation in ACD.…”

Section: Resultsmentioning

confidence: 99%

Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree

et al. 2021

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Background: Amyloidosis cutis dyschromica (ACD) is a rare type of primary localized cutaneous amyloidosis. Non-invasive techniques can provide important clues for early diagnosis.Objectives: To highlight the characteristic imaging changes of ACD under dermoscopy and reflectance confocal microscopy (RCM), investigate gene mutations in a Chinese Han pedigree of ACD, and analyze the genotype–phenotype correlation.Methods: Dermoscopy and RCM examinations were completed together for the pedigree, and the imaging characteristics were described. The diagnosis of ACD was confirmed by pathological examination. Sequencing was performed followed by bioinformatics and genotype–phenotype correlation. ACD-related articles published on PubMed between January 1970 and March 2021 were reviewed and summarized.Results: In ACD, dermoscopy showed patchy white hypopigmentation and brownish spots, stripes, or hyperpigmented blotches and patches. RCM showed a highly refractive substance with clumpy, dotted, and linear structures inside the papillary dermis. Sequencing identified glycoprotein non-metastatic melanoma protein B (GPNMB) missense mutations [c.393T>G (p.Y131X; NM_001005340.2)] and a frameshift deletion mutation [c.719_720delTG (p.V240fs; NM_001005340.2)]. The ANNOtate VARiation (ANNOVAR) software predicted that c.393T>G is a pathogenic mutation. The literature review found 14 mutations, namely, 5 (35.7%) frameshift mutations, 4 (28.6%) non-sense mutations, 4 (28.6%) missense mutations, and 1 (7.1%) splice site mutation. Blisters and epidermolysis were observed in several cases, but there was no significant association between clinical manifestations and mutations in ACD.Conclusions: This study was the first to combine dermoscopy and RCM to describe ACD. Two GPNMB gene mutations were reported in a Chinese ACD pedigree. The genotype–phenotype correlation was analyzed for the first time; however, there was no significant correlation.

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Section: Resultsmentioning

confidence: 99%

Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree

et al. 2021

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“…Recent studies point out that most cases of ACD result from autosomal recessive mutations in GPNMB, encoding glycoprotein nonmetastatic gene B. 3,4 GPNMB has been found to have critical roles in melanosome formation, autophagy, phagocytosis, tissue repair and downregulation of inflammation. Nevertheless, the mechanism by which loss of function of GPNMB induces the pigment dyschromia and amyloidosis in ACD is not yet clear.…”

Section: Discussionmentioning

confidence: 99%

Diffuse hyperpigmented macules in a 48‐year‐old woman

Seguí,

Rodríguez‐Jiménez,

Fernández‐Galván

et al. 2024

JEADV Clinical Practice

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“…UVB and UVC (1,5) rays induced damage also thought to play some role in ACD . Role of EBV has also been postulated in some cases of primary cutaneous (6) amyloidosis .…”

Section: Discussionmentioning

confidence: 99%

Progressive Pigmentation of Whole Body Mimicking Hereditary Reticulate Pigmentation in a Young Girl: A Rare Presentation of Amyloid Cutis Dyschromica

Boparai

Brar

Kaur

2020

ijsr

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Primary cutaneous amyloidosis is a chronic, progressive disorder of skin, because of the amyloid deposition in the skin with no systemic involvement. Amyloid cutis dyschromica (ACD) is considered a rare variant of primary cutaneous amyloidosis with around 50 cases reported so far. Most cases are reported from Asia, majority having the family history. Autosomal recessive inheritance in GPNMB encoding glycoprotein non metastatic gene B has been reported in many cases with few case reports of semidominat inheritance. It is usually asymptomatic condition as opposed to other types of primary cutaneous amyloidosis like macular or lichenoid variant which are associated with moderate to severe pruritus and photosensitvity. Chief complaint in majority of cases is cosmetic concern only. In view of the very few cases reported from India, we hereby report the case of a 28 years old female having similar dyspigmentation in one sibling.

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Molecular basis and inheritance patterns of amyloidosis cutis dyschromica

Cited by 7 publications

References 6 publications

Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree

Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree

Diffuse hyperpigmented macules in a 48‐year‐old woman

Progressive Pigmentation of Whole Body Mimicking Hereditary Reticulate Pigmentation in a Young Girl: A Rare Presentation of Amyloid Cutis Dyschromica

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