Familial comedones. Evidence for autosomal dominant inheritance

Cantu, J. M.

doi:10.1001/archderm.114.12.1807

Cited by 10 publications

(6 citation statements)

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“…However, several other possible clinical subtypes were also proposed recently, such as regular type, frictional furuncle type, scarring folliculitis type, conglobata type, syndromic type, and ectopic type. [7] In addition, several cases mainly manifested as asymptomatic comedones and pitted scars without notable inflammation had been reported namely as familial comedones,[56] which were similar to our cases. Rerknimitr et al .…”

Section: Discussionsupporting

confidence: 89%

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: Discussionsupporting

confidence: 89%

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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“…On the other hand, no relationship is shown between superficial or deep inflammatory lesions and family history of acne. This lends support to a possible influence of a genetic factor on the microcomedone, which is the most primary lesion of acne [10, 11]. …”

Section: Discussionmentioning

confidence: 76%

Heredity: A Prognostic Factor for Acne

Ballanger¹,

Baudry²,

Nguyen³

et al. 2006

Dermatology

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Background: The role of heredity in acne severity and therapeutic response remains unclear. Objective: A prospective epidemiologic study was performed to compare clinical and evolutive features of acne and response to treatment in 151 patients with acne with (A+) or without (A–) family history of acne. Methods: A+ and A– patients were compared on clinical and therapeutic criteria. A+ patients were then distributed into subgroups (M+, F+, M+F+) following the origin of family history (father: F, mother: M). Results: The clinical profile was similar in the A+ and A– populations. Acne occurred earlier and more often before puberty in the A+ population, in which oral treatments and relapse after isotretinoin were more frequent. Retentional lesions (number and extent) were more important in the M+ and M+F+ populations. Conclusion: This study confirms the importance of heredity as a prognostic factor for acne. Family history of acne is associated with earlier occurrence of acne, increased number of retentional lesions and therapeutic difficulties.

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“…Further studies showed autosomal dominant inheritance pattern of the disease. 2 Its onset is mostly in puberty, with a gradual increase in number and the lesions show a predilection for the trunk, arms, legs, face and shaft of the penis, sparing the glans, palms and soles. 4 Onset at childhood has also been reported.…”

Section: Discussionmentioning

confidence: 99%

“…4 Onset at childhood has also been reported. 1,2,5 Histologically, it is characterized by dyskeratosis and invaginations into the dermis, occasionally acantholysis may be seen. Acne vulgaris, Kyrle's disease, keratosis pilaris, perforating folliculitis, nevus comedonicus and Darier disease must be considered in the differential diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…Familial dyskeratotic comedones (FDC) is a well-known genodermatosis with autosomal dominant inheritance characterized by asymptomatic widespread, symmetrically scattered, comedone like hyperkeratotic papules and dyskeratosis in histology. 1,2 However, cases of familial diffuse comedones without dyskeratosis are extremely rare. Here, we present an unusual case of disseminated non-dyskeratotic comedones.…”

Section: Introductionmentioning

confidence: 99%

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Familial diffuse comedones, different entity or variant of familial dyskeratotic comedones: a case report

et al. 2020

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<p>Familial dyskeratotic comedones(FDC) is a rare autosomal dominant genodermatosis characterized by numerous comedones with dyskeratosis in histology. We report a case of 43-year-old woman and her 16-year-old daughter presenting with extensive diffuse comedones on the face, trunk and proximal extremities. Mild slate-grey pigmentation of face in the mother was an additional finding. Skin biopsy showed crateriform invagination with parakeratotic lamellae filled with keratinous material in the epidermis but no dyskeratosis or acantholysis. The case resembles FDC as described earlier. However, certain features like presence of hyperpigmentation and minimal hyperkeratotic papules, and absence of dyskeratosis or acantholysis may suggest that diffuse familial comedones exist as a different genodermatosis.</p>

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Familial comedones. Evidence for autosomal dominant inheritance

Cited by 10 publications

References 0 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

Heredity: A Prognostic Factor for Acne

Familial diffuse comedones, different entity or variant of familial dyskeratotic comedones: a case report

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