Familial primary localized cutaneous amyloidosis in a Japanese family

Ueo, Daisuke; Okubo, Yumi; Yozaki, Mariko; Mine, Yoshikazu; Anan, Takashi; Nishida, Haruto; Takahashi, Daisuke; Sakai, Takashi; Hatano, Yutaka; Fujiwara, Sakuhei

doi:10.1016/j.jdermsci.2016.05.007

Cited by 7 publications

(9 citation statements)

References 10 publications

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“…When assessing if certain factors predispose individuals to develop PLCA, familial forms have been described. Primary localized cutaneous amyloidosis appears to be mainly sporadic but in about 10% of patients, an autosomal dominant inheritance pattern with variable penetrance can be observed [4]. In addition, PLCA is common in southeast Asia, South America, and the middle eastern region [3].…”

Section: Treatment Considerationsmentioning

confidence: 99%

Primary Localized Cutaneous Amyloidosis of Keratinocyte Origin: An Update with Emphasis on Atypical Clinical Variants

et al. 2021

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Amyloid is a protein derived from at least 20 different substances. Once misfolded, it results in a group of cutaneous and systemic conditions. Primary localized cutaneous amyloidosis of keratinocyte origin is a very common subtype that can manifest either as lichen or macular amyloidosis, lacking systemic involvement. Lichen amyloidosis often presents as multiple hyperpigmented papules on the lower extremities whereas macular amyloidosis is classically characterized by dark brown rippled macules on the interscapular area. Review of the literature reveals that in addition to the classical presentation of primary localized cutaneous amyloidosis there exists a plethora of various manifestations that can be grouped into either geographic or morphologic categories. This review provides clinicians with the intimate knowledge of these presentations and summarizes the available treatment modalities. Key PointsPrimary localized cutaneous amyloidosis is a frequently encountered skin condition with a heterogeneous spectrum of clinical manifestations.Classifying the clinical spectrum into geographic and morphological categories assists dermatologists in the timely recognition of the correct diagnosis.

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Section: Treatment Considerationsmentioning

confidence: 99%

Primary Localized Cutaneous Amyloidosis of Keratinocyte Origin: An Update with Emphasis on Atypical Clinical Variants

et al. 2021

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“…11,12 To date, 12 missense mutations have been reported in OSMR, which are all located within the 3 extracellular fibronectin III-like (FNIII) domains closest to the transmembranous region of OSMRb. [13][14][15] In this study, we found that OSMR mutations (p.Gly513Asp, p.Ile691Thr1, p.Pro694Leu and p.Lys697Thr) were present in our Chinese families with fPLCA. We have also analysed the OSMR sequence in 64 patients with sPLCA and identified 22 cases with the p.Gly513Asp or p.Pro694Leu mutation.…”

Section: Discussionmentioning

confidence: 49%

“…OSMR encodes for OSMR β, a component of both the OSM type II receptor and the IL‐31 receptor . To date, 12 missense mutations have been reported in OSMR , which are all located within the 3 extracellular fibronectin III‐like (FNIII) domains closest to the transmembranous region of OSMR β …”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic features of Chinese patients with lichen and macular primary localized cutaneous amyloidosis

Lü

Rong

et al. 2019

Clin Exp Dermatol

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Summary Background Primary localized cutaneous amyloidosis (PLCA) is a chronic pruritic skin disorder. The genetic basis of familial (f)PLCA involves mutations in the oncostatin M receptor (OSMR) and interleukin‐31 receptor A (IL31RA) genes, but the disease pathophysiology is not fully understood. Aim To investigate the OSMR mutation spectrum in patients with sporadic (s)PLCA/fPLCA, lichen/macular PLCA in mainland China. Methods This study was carried out on 64 patients with sPLCA, along with 36 with fPLCA and 10 unaffected individuals collected from 23 unrelated Chinese families. Genomic DNA was extracted from peripheral blood samples. Mutation screening of 17 OSMR exons was performed by Sanger sequencing. Results PLCA lesions are typically localized to the shins, forearm and back. Sequence analysis of OSMR exons demonstrated that the OSMR missense mutation rate in patients with fPLCA (63.89%) was significantly higher than that in patients with sPLCA (34.38%). The male/female ratio of patients carrying a homozygous OSMR mutation (0.29) was significantly lower than that of patients carrying a heterozygous OSMR mutation (1.08; P < 0.05) and of patients with wildtype OSMR (1.75; P < 0.01). Age of onset of PLCA with OSMR homozygous mutation (median age 20 years) was earlier than that of PLCA with OSMR heterozygous mutation (median age 32 years; P < 0.01) or PLCA with wildtype genotype (median age 32 years; P < 0.01). Conclusion The present data indicate OSMR mutations as not only the main cause of fPLCA, but also the potential source of the pathogenesis of sPLCA, although the exact molecular mechanism remains unknown.

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“…These are thought to arise from degenerate protein from basal keratinocytes, immunoglobulins and normal serum amyloid P component. Most cases are sporadic, with autosomal dominant inheritance responsible for about 10% of cases, and although common in South American and Asian populations, PLCA is rare in white populations.…”

mentioning

confidence: 99%

“…Mutations in the genes for oncostatin M receptor ( OSMR ) and interleukin‐31 receptor A ( IL31RA ) have been previously reported in patients with PLCA . OSMR encodes for OSMR‐β, a member of the IL‐6 type cytokine receptor family, which binds IL‐31 and oncostatin M (OSM).…”

mentioning

confidence: 99%

A novel oncostatin M/interleukin‐31 receptor mutation in familial primary localized cutaneous amyloidosis

et al. 2019

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Familial primary localized cutaneous amyloidosis in a Japanese family

Cited by 7 publications

References 10 publications

Primary Localized Cutaneous Amyloidosis of Keratinocyte Origin: An Update with Emphasis on Atypical Clinical Variants

Primary Localized Cutaneous Amyloidosis of Keratinocyte Origin: An Update with Emphasis on Atypical Clinical Variants

Clinical and genetic features of Chinese patients with lichen and macular primary localized cutaneous amyloidosis

A novel oncostatin M/interleukin‐31 receptor mutation in familial primary localized cutaneous amyloidosis

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