Olmsted syndrome with alopecia universalis caused by heterozygous mutation in
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Dai, Shangzhi; Sun, Zhen; Lee, M.; Wang, H.; Yong, Yang; Lin, Zhimiao

doi:10.1111/bjd.18311

Cited by 7 publications

(11 citation statements)

References 8 publications

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“…Specifically, PERP is a tetraspan membrane protein that localizes to desmosomes and facilitates cell‐cell adhesion. Patients with germ line mutations in PERP demonstrate autosomal dominant and recessive disorders of keratinization, including Olmsted syndrome and erythrokeratoderma 5,6 . In mouse models, loss of PERP leads to both destabilization and a decreased number of desmosomes, as well as induction of pro‐inflammatory genes and enhanced cell survival due to a defective apoptotic pathway 7 .…”

Section: Introductionmentioning

confidence: 99%

Pilot study of loss of the p53/p63 target gene PERP at the surgical margin as a potential predictor of local relapse in head and neck squamous cell carcinoma

et al. 2020

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Background: PERP (p53 apoptosis effector related to PMP22) localizes to desmosomes and suppresses squamous cell carcinoma development. Loss of PERP leads to worse local control in head and neck squamous cell carcinoma (HNSCC), likely by destabilizing desmosomes. We evaluated PERP loss at HNSCC surgical margins as a predictor of local relapse. Methods: Combining discovery (n = 17) and validation (n = 31) cohorts, we examined membranous PERP protein expression by immunohistochemistry in surgical mucosal margins with competing risk analysis of the relationship between local relapse and PERP expression. Results: Of the 44 analyzable patients, the 2-year cumulative incidence of local relapse was 44.4% for the PERP-negative group and 16.4% for the PERPpositive group (P = .01). A trend toward worse progression-free survival (P = .09) and overall survival (P = .06) was observed with loss of PERP. Conclusions: PERP loss at surgical margins is associated with higher risk of local recurrence in HNSCC, warranting further evaluation in a larger prospective study.

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Section: Introductionmentioning

confidence: 99%

Pilot study of loss of the p53/p63 target gene PERP at the surgical margin as a potential predictor of local relapse in head and neck squamous cell carcinoma

et al. 2020

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“…In comparison with cases reported by Duchatelet et al, 4 the two Chinese cases exhibited some distinct clinical features, including more generalized lesions, intolerable itching, congenital hypotrichosis, and growth retardation. 5 Our case presented with an even more severe phenotype.…”

Section: E509mentioning

confidence: 67%

Recurrent c.459 C>A mutation of the PERP gene results in severe Olmsted syndrome with congenital hypotrichosis, atopic dermatitis, and growth retardation

Song

Ran

Chen

et al. 2021

The Journal of Dermatology

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“…121 A second report had strikingly divergent features despite involving the same stop codon (p.Tyr153*), although the nucleotide change was different (c.459C>A as opposed to c.459C>G). 122 This individual manifested alopecia universalis (rather than woolly, yellow hair), intense pruritus and mutilating PPK (with digital flexion contractures). This heterogeneity may be influenced by other genetic, epigenetic or environmental modifiers.…”

Section: Associated Desmosomal Proteins Corneodesmosinmentioning

confidence: 98%

“…This individual manifested alopecia universalis (rather than woolly, yellow hair), intense pruritus and mutilating PPK (with digital flexion contractures). This heterogeneity may be influenced by other genetic, epigenetic or environmental modifiers 122 . Recessive PERP mutations cause a generalized erythrokeratoderma (EK), with an affected individual manifesting woolly hair, recurrent dermatophyte infections and anhidrosis.…”

Section: Associated Desmosomal Proteinsmentioning

confidence: 99%

“…This heterogeneity may be influenced by other genetic, epigenetic or environmental modifiers. 122 Recessive PERP mutations cause a generalized erythrokeratoderma (EK), with an affected individual manifesting woolly hair, recurrent dermatophyte infections and anhidrosis. The implicated N-terminal frameshift mutation led to nonsense-mediated mRNA decay and absent protein expression.…”

Section: Associated Desmosomal Proteins Corneodesmosinmentioning

confidence: 99%

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Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities*

Lee

McGrath

2020

Br J Dermatol

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Summary The desmosome is a type of intercellular junction found in epithelial cells, cardiomyocytes and other specialized cell types. Composed of a network of transmembranous cadherins and intracellular armadillo, plakin and other proteins, desmosomes contribute to cell–cell adhesion, signalling, development and differentiation. Mutations in genes encoding desmosomal proteins result in a spectrum of erosive skin and mucosal phenotypes that also may affect hair or heart. This review summarizes the molecular pathology and phenotypes associated with desmosomal dysfunction with a focus on inherited disorders that involve the skin/hair, as well as associated extracutaneous pathologies. We reviewed the relevant literature to collate studies of pathogenic human mutations in desmosomes that have been reported over the last 25 years. Mutations in 12 different desmosome genes have been documented, with mutations in nine genes affecting the skin/mucous membranes (DSG1, DSG3, DSC2, DSC3, JUP, PKP1, DSP, CDSN, PERP) and eight resulting in hair abnormalities (DSG4, DSC2, DSC3, JUP, PKP1, DSP, CDSN, PERP). Mutations in three genes can result in cardiocutaneous syndromes (DSC2, JUP, DSP), although mutations have been described in five genes in inherited heart disorders that may lack any dermatological manifestations (DSG2, DSC2, JUP, PKP2, DSP). Understanding the diverse nature of these clinical phenotypes, as well as the desmosome gene mutation(s), has clinical value in managing and counselling patients, as well as demonstrating the biological role and activity of specific components of desmosomes in skin and other tissues.

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Olmsted syndrome with alopecia universalis caused by heterozygous mutation in PERP

Cited by 7 publications

References 8 publications

Pilot study of loss of the p53/p63 target gene PERP at the surgical margin as a potential predictor of local relapse in head and neck squamous cell carcinoma

Pilot study of loss of the p53/p63 target gene PERP at the surgical margin as a potential predictor of local relapse in head and neck squamous cell carcinoma

Recurrent c.459 C>A mutation of the PERP gene results in severe Olmsted syndrome with congenital hypotrichosis, atopic dermatitis, and growth retardation

Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities*

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