Rosacea as a striking feature in family members with a <i><scp>STAT</scp>1</i> gain‐of‐function mutation

Sáez‐de‐Ocariz, Marimar; Suárez‐Gutiérrez, M.; Migaud, Mélanie; O’Farrill-Romanillos, Patricia María; Casanova, Jean‐Laurent; Segura-Méndez, Nora Hilda; Orozco‐Covarrubias, Luz; Espinosa-Padilla, Sara; Puel, Anne; Blancas-Galicia, Lizbeth

doi:10.1111/jdv.16241

Cited by 23 publications

(19 citation statements)

References 9 publications

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“…A higher prevalence among monozygous twins and association with two single nucleotide polymorphisms have been reported in the literature 5,6 . It has been reported that family members with a gain‐of‐function mutation in STAT1 show a phenotype of early‐onset rosacea 7 …”

Section: Pathogenesismentioning

confidence: 98%

Childhood rosacea and related disorders

2020

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Summary Rosacea is a chronic inflammatory condition that affects the skin and the eyes. The pathogenesis of rosacea is complex and includes the interaction between genetic and environmental factors, dysregulation of the innate immune system, neurovascular modifications and the interaction with skin commensals. Clinical manifestations in children include the telangiectatic form, papulopustular rosacea, ocular rosacea, periorificial dermatitis, granulomatous rosacea and idiopathic facial aseptic granuloma. Management is aimed at identifying and avoiding triggers. Topical therapy is used for mild cases with topical antibiotics and anti‐inflammatory agents. Oral agents are indicated, in combination with topical therapy, for moderate to severe cases. Prolonged therapy may be required.

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Section: Pathogenesismentioning

confidence: 98%

Childhood rosacea and related disorders

2020

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“…The delicate host/ Demodex equilibrium may be tipped in favor of mite proliferation by various factors, including immunosuppression [ 61 – 88 ], diabetes [ 89 – 92 ]), vasodilatory-related factors [ 8 , 10 , 25 , 27 , 31 , 57 , 93 – 97 ], and/or sebaceous hyperplasia [ 8 , 10 , 51 , 98 ]. Initially, overproliferation of the mite is not clinically visible, giving rise to what could be called subclinical demodicosis, which can be observed in many skin conditions (including apparently healthy skin and any facial dermatosis), but is commonly encountered in ETR [ 97 ] (Fig.…”

Section: Demodex and Demodicosismentioning

confidence: 99%

The Pathogenic Role of Demodex Mites in Rosacea: A Potential Therapeutic Target Already in Erythematotelangiectatic Rosacea?

Forton¹

2020

Dermatol Ther (Heidelb)

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Rosacea is an inflammatory continuum, with all characteristics being already present from the onset of the disease, even if not clinically visible. Demodex proliferation also appears to be a continuum process in rosacea, and high Demodex density is beginning to be accepted as an important trigger of the inflammatory cascade and as a marker of rosacea: moreover, papulopustules of rosacea can be treated using acaricides. Immunological studies are providing new hypotheses according to which Demodex may induce tolerogenic dendritic cells and collaborate with VEGF to induce T cell exhaustion favoring its own proliferation. This proliferation may not be clinically visible initially. The interactions among VEGF, Demodex, and immunity need to be explored, and the nosology of rosacea definitions adapted accordingly. The effectiveness of treating any patient who only has visible vascular symptoms with an acaricidal cream needs to be confirmed in prospective controlled clinical trials with long-term follow-up, but it is already important to detect patients with pityriasis folliculorum among those with only vascular symptoms of rosacea in order to treat at least these patients with an acaricidal cream. DIGITAL FEATURES This article is published with digital features to facilitate understanding of the article. You can access the digital features on the article's associated Figshare page. To view digital features for this article go to

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“…Genetic factors are well-known to influence the risk of rosacea, 83 and the STAT 1 gain-of-function mutation is associated with familial rosacea 84 and demodicosis. 20,22 In our study, most of the pairs of subjects had a genetic link suggesting that genetic background is more important than just close contact with a subject with high Dd.…”

Section: Familial Casesmentioning

confidence: 99%

Which factors influence Demodex proliferation? A retrospective pilot study highlighting a possible role of subtle immune variations and sebaceous gland status

Forton¹,

Maertelaer

2021

The Journal of Dermatology

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Rosacea as a striking feature in family members with a STAT1 gain‐of‐function mutation

Abstract: Generation of full-thickness skin equivalents using hair follicle-derived primary human keratinocytes and fibroblasts.

Cited by 23 publications

References 9 publications

Childhood rosacea and related disorders

Childhood rosacea and related disorders

The Pathogenic Role of Demodex Mites in Rosacea: A Potential Therapeutic Target Already in Erythematotelangiectatic Rosacea?

Which factors influence Demodex proliferation? A retrospective pilot study highlighting a possible role of subtle immune variations and sebaceous gland status

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