Increased prevalence of intrafamilial transmission of rosacea observed

A recent survey of intrafamilial transmission of rosacea revealed that the prevalence of familial rosacea was almost 70% and nearly half of all participants tested positive for at least 1 family member with this skin condition. .

In previous research, hereditary predisposition to rosacea had been posited on the basis of family inheritance and concordance of twins.

Although the pathophysiology of rosacea is unclear and multifactorial, several factors such as genetic susceptibility, positive family history, immune/neurovascular dysregulation, vascular and neuronal dysfunction, and local proliferation of cutaneous commensals have been considered.

As such, a team of researchers led by Giuseppe Micali, MD, Dermatology Clinic of the University of Catania, Italy, evaluated data on the intrafamilial transmission of rosacea over 6 generations.

The methods

From June 2018 to June 2019, researchers recruited rosacea patients from the Acne and Rosacea Clinic of the University of Catania.

A total of 130 adult patients were recruited, including 93 women. The average age of the participants was 49 years old.

Demographic and lifestyle characteristics, anamnestic and clinical data, and degree of severity were collected from each participant before questions about familiarity and interfamilial transmission up to 6 generations were asked.

Several modalities were considered, including horizontal transmission which encompasses all family members who are not directly descended from the proposer, vertical transmission which included all family members who are directly descended from the proposer in an upward trend and/or downlink, and the combined transmission of both horizontal and vertical transmission.

The results

Regarding prominent phenotypes, investigators noted that fixed centrofacial erythema +/- telangiectasias + papule/pustule lesions were present in 67 (51.5%) patients.

This was followed by fixed centrofacial erythema +/- telangiectasia in 49 (37.8%), phymatous changes in 5 (6.9%) or ocular manifestations in 9 (3.8%).

The overall severity of rosacea was mild in 45 (34.6%) patients, moderate in 70 (53.8%) and severe in 15 (11.6%), and a statistically significant association was found between fixed centrofacial erythema +/- telangiectasias + papules and pustules phenotype and female gender (p=0.0001).

Additionally, statistically significant associations were observed with phymatous changes with male gender (p=0.0001), normal weight (p=0.009) and smoking (p=0.026); eye symptoms with alcohol consumption (p=0.01).

In terms of familiarity, 64 of 130 patients (49.2%) tested positive for at least 1 family member.

Of these, 28 (43.8%) were affected by fixed centrofacial erythema +/- telangiectasias, while 26 (40.6%) were affected by fixed centrofacial erythema +/- telangiectasias + papules/pustules, and (14 %) and 1 (1.6%) by ocular manifestations or phymatous changes, respectively.

Following a precise family anamnestic survey of all relatives, 90 affected relatives of the probrand group (69.2%) were identified.

Among them, 45 (50%) had fixed centrofacial erythema +/- telangiectasias, 32 (35.5%) fixed centrofacial erythema +/- telangiectasias + papules/pustules, and 10 (11%) and 3 (3.5 %) ocular or phymatous manifestations. respectively, with severity rates being mild in 39 (43.4%), moderate in 42 (46.6%) and severe in 9 (10%).

Reharding hereditary rosacea, vertical transmission was recorded in 45 (70.3%) probands, horizontal in 11 (17.2%) and combined in 8 (12.5%).

Based on the data, the investigators felt that the prevalence of familiarity with rosacea had been underestimated in previous reports, adding that more precise investigation was recommended.

“Extending research to all potentially affected relatives or offspring of rosacea patients with positive family histories may support early diagnosis aimed at the adoption of correct therapeutic intervention and educational programs to prevent exposure to factors triggering or aggravating,” the team wrote. “Additional genome-wide association studies (GWAS) are, however, needed to better investigate specific genetic factors associated with familial rosacea risk and to identify links between gene variants and expressed rosacea phenotype. “

The study, “Intrafamilial Transmission of Rosacea Spanning Six Generations: A Retrospective Observational Study,” was published online in the Journal of Clinical and Aesthetic Dermatology.

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