Late-onset amyloidosis cutis dyschromica: an unusual case

Kutlu, Ömer; Çetinkaya, Pınar Özdemi; Ünverdǐ, Hatǐce; Vahapoğlu, Güler; Ekşioğlu, Meral

doi:10.5070/d3254043576

Cited by 4 publications

(6 citation statements)

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“…Our histopathological results show mild hyperkeratosis, focal pigment incontinence, and homogenous eosinophilic deposits in the papillary dermis. Based on these typical pathological characteristics ( 14 ), the diagnosis of ACD was confirmed. The literature shows that amyloid deposits in PLCA correspond to various high refractive structures under RCM, usually with various shapes (dotted, coliform, and agglomerates), and melanophages, often visible as brightly refractile, oval or stellate-shaped cells.…”

Section: Discussionmentioning

confidence: 91%

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: Discussionmentioning

confidence: 91%

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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“…There are few cases of ACD with postpuberal onset reported in the literature. 5 The distinguishing features of the clinical presentation include generalized mottled hyper and hypopigmented macules. In addition, diffuse hyperpigmented small papules have also been documented.…”

Section: Discussionmentioning

confidence: 99%

“…Our patient refers starting with the lesions at her forties, showing an unusual presentation of ACD. There are few cases of ACD with postpuberal onset reported in the literature 5 . The distinguishing features of the clinical presentation include generalized mottled hyper and hypopigmented macules.…”

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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“…This case differs from other reports in the literature due to the late onset in adulthood, localized rather than diffuse presentation, and lack of family history. 3 , 4 Reports of postpubertal onset cases of ACD are very rare, with only one known case to our knowledge involving a 49-year-old woman with widespread reticular and speckled pigmented lesions. 4 In a single-center retrospective review of 10 cases of ACD, half were from the same family ( n = 5), with most cases occurring in childhood ( n = 7).…”

Section: Discussionmentioning

confidence: 99%

“… 3 Genetic factors and impaired DNA repair from UV light are suspected contributors to the etiology of ACD. 4 Different treatment modalities, including sunscreen, topical corticosteroids, keratolytics, dimethyl sulfoxide, capsaicin, CO2 laser, and acitretin, have been used with varying degrees of effectiveness. 4 Here, we describe a rare presentation of ACD demonstrating classic histopathologic features, but notably with late onset, localized presentation, and no familial history.…”

Section: Introductionmentioning

confidence: 99%

A rare case of late-onset amyloidosis cutis dyschromica

Lau,

Moshiri,

Khalil

et al. 2024

JAAD Case Reports

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Late-onset amyloidosis cutis dyschromica: an unusual case

Cited by 4 publications

References 0 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

A rare case of late-onset amyloidosis cutis dyschromica

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