Expanding Phenotypic Spectrum of Familial Comedones

Rerknimitr, Pawinee; Korkij, Wiwat; Wititsuwannakul, Jade; Panmontha, Wipa; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk

doi:10.1159/000358170

Cited by 9 publications

(10 citation statements)

References 10 publications

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“…Rerknimitr et al . [9] then reported more families and extended the familial comedones spectrum to include multiple severe inflammatory lesions and scars together with generalized comedones. Interestingly, using whole-genome linkage analysis and whole-exome sequencing in this family, a heterozygous one-base pair insertion, 84_85insT (p.L28FfsX93) in PSENEN gene was identified,[10] which shared the same causative gene in AI and the present cases.…”

Section: Discussionmentioning

confidence: 99%

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease

Zhou

Guo

Soe

et al. 2016

Chinese Medical Journal

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Background:Acne inversa (AI), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the γ-secretase genes. This study was aimed to identify the specific mutations in the γ-secretase genes in two Chinese families with AI.Methods:In this study, two Chinese families with AI were investigated. All the affected individuals in the two families mainly manifested with multiple comedones, pitted scars, and a few inflammatory nodules on their face, neck, trunk, axilla, buttocks, upper arms, and thighs. Reticulate pigmentation in the flexures areas resembled Dowling-Degos disease clinically and pathologically. In addition, one of the affected individuals developed anal canal squamous cell carcinoma. Molecular mutation analysis of γ-secretase genes including PSENEN, PSEN1, and NCSTN was performed by polymerase chain reaction and direct DNA sequencing.Results:Two novel mutations of PSENEN gene were identified, including a heterozygous missense mutation c.194T>G (p.L65R) and a splice site mutation c.167-2A>G.Conclusions:The identification of the two mutations could expand the spectrum of mutations in the γ-secretase genes underlying AI and provide valuable information for further study of genotype-phenotype correlations.

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Section: Discussionmentioning

confidence: 99%

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease

Zhou

Guo

Soe

et al. 2016

Chinese Medical Journal

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“…Recently, Rerknimitr et al [13] described 12 cases in two unrelated families from Thailand with familial disseminated comedones without dyskeratosis. Similar to our proband, multiple severe nodulocystic lesions with scar formation were observed in 4 patients of their series, with 2 of them associated with early development of squamous cell carcinoma at the age of 25 and 33 years, respectively.…”

Section: Discussionmentioning

confidence: 99%

“…Similar to our proband, multiple severe nodulocystic lesions with scar formation were observed in 4 patients of their series, with 2 of them associated with early development of squamous cell carcinoma at the age of 25 and 33 years, respectively. Malignant transformation seems to be more related to the degree of inflammation and scarring than to the disease duration [13]. It remains to be determined whether suppuration and scarring is an essential part of the disease course or the consequence of long-lasting strong inflammation.…”

Section: Discussionmentioning

confidence: 99%

Familial Disseminated Comedones without Dyskeratosis: Report of an Affected Family and Review of the Literature

et al. 2014

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Familial dyskeratotic comedones is a well-known genodermatosis with autosomal dominant inheritance, characterized by numerous comedones with dyskeratosis in histology and scar formation in consequence. In contrast, cases of familial disseminated comedones without dyskeratosis appear to be extremely rare. So far, only three reports could be found in the literature. Here we describe a large family affected with disseminated comedones superimposed by moderate to severe acne. Remarkably, no signs of dyskeratosis were found in the histology taken from 2 of the 15 affected family members. We propose the diagnostic term ‘familial disseminated comedones without dyskeratosis' to underline its familial and disseminated characteristics and discuss the differentiation with other similar entities.

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“…We described two families with familial comedones [2]. We extended the disease spectrum to include multiple severe inflammatory lesions and scars together with generalized comedones.…”

Section: Introductionmentioning

confidence: 99%

A Frameshift Mutation in <b><i>PEN-2</i></b> Causes Familial Comedones Syndrome

Panmontha¹,

Rerknimitr

Yeetong³

et al. 2015

Dermatology

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Background: Familial comedones without dyskeratosis are a rare autosomal dominant skin disorder, characterized by the occurrence of comedones that are distributed all over the body with specific features. We have previously reported two Thai families with familial comedones with expanded phenotypic spectrum. However, its genetic defect and pathogenesis remain unknown. Objective: To explore the molecular defect causing familial comedones. Methods: Whole-genome linkage analysis and whole-exome sequencing in family I were performed. Results: We identified a heterozygous one-base pair insertion, c.84_85insT (p. L28FfsX93) in PEN-2, located within the linked region on chromosome 19. PCR-Sanger sequencing confirmed the identified mutation. The mutation segregated with the disease phenotype in family I and was fully penetrant. This similar mutation was also present in the unrelated affected individual from family II. Quantitative PCR revealed increased mRNA expression of PEN-2 in leukocytes of affected individuals. Conclusion: We for the first time identify PEN-2 as the causative gene of familial comedones.

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Expanding Phenotypic Spectrum of Familial Comedones

Cited by 9 publications

References 10 publications

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease

Familial Disseminated Comedones without Dyskeratosis: Report of an Affected Family and Review of the Literature

A Frameshift Mutation in <b><i>PEN-2</i></b> Causes Familial Comedones Syndrome

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