Derm 101: Our multi-part series covering the basics of Rosacea

The information and resources included below can help you educate your patients about Rosacea and how the disease is diagnosed and managed.

Part 1: What is Rosacea?

Part 2: The phenotype approach in Rosacea diagnosis and management

Part 1: What is Rosacea? 

Rosacea is a common inflammatory facial skin disorder marked by flushing, facial erythema, inflammatory papules and pustules and telangiectasias. Rosacea primarily affects the central face: cheeks, chin, forehead and nose. In rare cases, it will also present on the ears.¹

Rosacea typically occurs in adults, with a reported prevalence of 1-20% in the general population, predominantly females.² Patients often report a strong familial history of Rosacea; however the condition is exceedingly rare in children and adolescents.³ Individuals in all racial and ethnic groups may be affected by Rosacea but it is most common in people with fair skin; individuals of Celtic background, for instance, are commonly affected.⁴

Rosacea was previously characterized based on its predominant cutaneous morphologic features, which were the basis for classification as subtypes. However, in 2017, a National Rosacea Society Expert Committee reclassified the disease into diagnostic, major, and secondary phenotypes.⁵ Phenotypes are individual features of Rosacea that can span multiple subtypes and which better account for the pathophysiology and overlapping nature of the condition and its features.

Diagnostic phenotypes include fixed centrofacial erythema and phymatous changes. The presence of one of these diagnostic phenotypes is enough to diagnose a patient with Rosacea.⁶

In the absence of diagnostic phenotypes, a patient must have two of the following major phenotypes to satisfy a Rosacea diagnosis: dome-shaped red papules and pustules, intermittent facial flushing or blushing, telangiectasias, or ocular manifestations such as lid margin telangiectasias, interpalpebral conjunctival injection, spade-shaped corneal infiltrates, scleritis, or sclerokeratitis.⁷

Secondary phenotypes can occur with either diagnostic or major phenotypes and may include: a burning or stinging sensation, edema, dryness or scaliness of the skin, or ocular manifestations such as honey crust or collarettes at the base of the lashes, irregularity of the lid margin and evaporative tear dysfunction. These secondary phenotypes by themselves are not enough to diagnose Rosacea.⁸

The new phenotype classification of the features of Rosacea can be very useful in research; however, many clinicians continue to use the familiar subtype classification in practice.

Regardless of classification, it is important to recognize that facial erythema is present in almost all diagnostic and major phenotypes of Rosacea, and many phenotypes of Rosacea overlap within individual patients.⁹ For successful management, it is imperative that the clinician correctly identify these overlapping features at presentation and target them using appropriate therapies for the corresponding features.

The etiology of Rosacea is unknown. Investigators hypothesize that the condition stems from a constellation of abnormalities of the skin, small cutaneous blood vessels and nerves and the surrounding connective tissue and an abnormal inflammatory response.¹⁰ Indeed, chronic inflammation is the hallmark of Rosacea, and it underlies many of the clinical signs and symptoms of the disease.¹¹

There is currently no cure for Rosacea.¹² The most important principle of Rosacea therapy is that it is a chronic condition that must be managed over time.¹³ Avoidance of triggers is the foremost recommendation, thus patients with Rosacea must be counseled carefully in their pivotal role in managing their disease.¹⁴ However, despite the best treatment plans, patients commonly relapse and remit.¹⁵ Most patients with Rosacea will require some type of additional treatment on a long-term basis for maintenance of their disease.¹⁶

There are many available current therapies to treat Rosacea. Some key therapies are approved for the indication of Rosacea, whereas many others are off-label uses with variable efficacy. More studies are needed to provide the evidence for the most effective management strategies for this common, chronic skin condition.¹⁷

Though Rosacea primarily affects the face and eyes, it can also cause significant detriment on quality of life due to both physical discomfort and impact on self-esteem.¹⁸ Patients with Rosacea may suffer from the common misconceptions and social stigmas about the disease, such as being viewed as heavy users of alcohol. Surveys indicate that people have a negative impression of patients with Rosacea.¹⁹

Clinicians should be aware of the significant impact of this disease on the patient’s quality of life and provide support as part of a holistic, long-term plan of care.

Part 2: The phenotype approach in Rosacea diagnosis and management

This is the second installment in a series about Rosacea.

To quickly review, in part one we introduced Rosacea as a common, chronic skin condition that can be painful, frustrating and embarrassing. The symptoms can be different from person to person but generally involve the central face with transient or persistent erythema, telangiectasia, inflammatory papules and pustules or hyperplasia of the connective tissue.¹

The National Rosacea Society Expert Committee defines four subtypes of rosacea:

• Erythemato-telangiectatic Rosacea (ETR)
• Papulopustular Rosacea (PPR)
• Phymatous Rosacea
• Ocular Rosacea

These subtypes were not always practical for HCPs since many patients have signs and symptoms of more than one type of Rosacea at the same time. This led to the development of a new classification system based on phenotypes or observable characteristics of the disease to simplify diagnosis and better direct treatment.²

Some of these phenotypes (erythema and phymatous changes) are diagnostic phenotypes, which means the presence of either alone is enough for a clinician to make a Rosacea diagnosis. In the absence of diagnostic phenotypes, a patient must have two major phenotypes to satisfy a Rosacea diagnosis. Major phenotypes include the presence of dome-shaped red papules and pustules, intermittent facial flushing or blushing, telangiectasias or ocular manifestations.³

Secondary phenotypes can occur with either diagnostic or major phenotypes and may include: a burning or stinging sensation, edema, dryness or scaliness of the skin, or ocular manifestations such as honey crust or collarettes at the base of the lashes, irregularity of the lid margin and evaporative tear dysfunction. These secondary phenotypes by themselves are not enough to diagnose Rosacea.⁴

Erythemato-Telangiectatic Rosacea (also known as Persistent Facial Erythema Phenotype)

Central facial flushing, often accompanied by burning or stinging, is a diagnostic phenotype of Rosacea and the predominant symptom of erythemato-telangiectatic rosacea (ETR). Patients with ETR typically have skin with a fine texture that lacks the sebaceous characteristic of other types of skin.⁵

ETR is characterized by diffuse, persistent erythema and telangiectasias on the cheeks, forehead, dorsal nose or the entire face. The erythematous areas of the face at times appear rough with scale, likely due to chronic, low-grade dermatitis. Triggers of ETR and facial flushing include emotional stress, hot drinks, alcohol, spicy foods, exercise, cold or hot weather and hot showers.⁶

Though sometimes considered the mildest form of Rosacea, ETR is marked by significant impact on quality of life. It is often accompanied by telangiectasias in skin types I-IV and can be difficult to detect in patients with darker phototypes V and VI. Patients with this subtype often complain of intolerance or sensitivity to topical products and cosmetics.⁷

Phymatous Rosacea (also known as Phymatous Phenotype)

Phymatous Rosacea is a diagnostic phenotype marked by thickening of the skin, irregular skin texture, edema, hypertrophy and hyperplasia of sebaceous glands, connective tissue, and – most commonly – the vascular bed of the nose (rhinophyma). Phymatous changes can also occur on the chin (gnathophyma), ears (otophyma), forehead (metophyma), and eyelids (blepharophyma). Phymatous Rosacea is seen almost exclusively in males.⁸ 

Growing evidence now confirms that rhinophyma, the excess growth of tissue on the nose that represents the most advanced stage of phymatous rosacea, is a result of the chronic lymphedema (swelling) that often appears in Rosacea.⁹

Papulopustular Rosacea (also known as Papules and Pustules)

Papulopustular Rosacea (PPR) is not a diagnostic phenotype; it’s a major phenotype, which means it requires the presence of another major phenotype to confirm diagnosis.¹⁰ PPR is characterized by papules and pustules often with flushing or erythema that primarily affect the nose, cheeks, and forehead. Lesions most commonly occur on the central aspect of the face, sometimes with central facial edema.¹¹ PPR is often mistaken for acne and most commonly affects middle-aged women.¹²

PPR is classified as mild, moderate, or severe depending on the lesion count of erythematous papules and pustules, the intensity and extent of those lesions and the involvement of extrafacial sites, such as the ears.¹³

Ocular Manifestations

Ocular Rosacea is not a diagnostic phenotype, but it is considered a major feature of Rosacea and can be seen in the presence or absence of Rosacea that affects the skin.¹⁴ In order to diagnose Rosacea from ocular symptoms, they must be present with at least one of the other major features of the disease.

Ocular Rosacea is characterized by conjunctival erythema and injection, sometimes accompanied by eyelid edema (blepharitis), foreign body sensation, and/or glandular inflammation (chalazion) along the eyelid margin. Patients report subjective symptoms: foreign body sensations, dry eyes, itching and burning and photosensitivity.¹⁵ Notably, vision is rarely affected unless the ocular manifestations are severe.¹⁶

Ocular rosacea will be covered in more detail in the next article in this series.

Knowing which Rosacea symptoms you have—along with understanding what your primary subtype may be—can help your dermatologist determine how best to treat you. This isn’t always easy, as the types and symptoms of Rosacea frequently overlap in the same patient.¹⁷ It is not unusual for people to have ETR and papulopustular Rosacea, for instance. Not only can this confound diagnosis, it also necessitates combination strategies to address overlapping features, optimize treatment and deliver the best outcomes for patients.¹⁸ 

Skin Manifestations of Rosacea

Rosacea typically affects the skin on the face. Common symptoms can be persistent or transient and include:

References

1.Medical News Today, 2020. What is rosacea? Available at: https://www.medicalnewstoday.com/articles/160281. Accessed: Aug 2021.

2.Premiere Research, 2019. Understanding recent updates to the classification of rosacea. Available at: https://premier-research.com/perspectives-understanding-recent-updates-classification-rosacea/. Accessed: Aug 2021.

3.MD Edge, 2020. Moving from subtypes to phenotypes is simplifying. Available at: https://www.mdedge.com/dermatology/article/233202/rosacea/moving-subtypes-phenotypes-simplifying-management-rosacea. Accessed: Aug 2021.

4.Van Zuuren, et al., British Journal of Dermatology, 2019. Interventions for rosacea based on the phenotype approach: an updated systemic review including GRADE assessments. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850438/. Accessed: Aug 2021.>

5.The Healthy, 2021. Do you have flushing and redness? You may have this type of rosacea. Available at: https://www.thehealthy.com/skin-health/rosacea/what-is-erythematotelangiectatic-rosacea/. Accessed: Aug 2021.

6.Healthline.com, 2019. Rosacea: types, causes and remedies. Available at: https://www.healthline.com/health/skin/rosacea. Accessed: Aug 2021.

7.ResearchGate.net, 2019. Erythema of rosacea affects health-related quality of life: results of a National Rosacea Society survey. Available at:

https://www.researchgate.net/publication/335767866_Erythema_of_Rosacea_Affects_Health-Related_Quality_of_Life_Results_of_a_Survey_Conducted_in_Collaboration_with_the_National_Rosacea_Society. Accessed: Aug 2021.

8.The Healthy, 2020. Does your nose appear large and red? You may have this type of rosacea. Available at: https://www.thehealthy.com/skin-health/rosacea/what-is-phymatous-rosacea/. Accessed: Aug 2021.

9.WebMD, 2021. What to know about rhinophyma. Available at: https://www.webmd.com/skin-problems-and-treatments/what-to-know-about-rhinophyma. Accessed: Aug 2021.

10.Premiere Research, 2019. Understanding recent updates to the classification of rosacea. Available at: https://premier-research.com/perspectives-understanding-recent-updates-classification-rosacea/. Accessed: Aug 2021.

11.Medscape, 2021. Rosacea. Available at: https://emedicine.medscape.com/article/1071429-overview#a5. Accessed: Aug 2021.

12.SELF, 2019. How to tell if your “acne” might actually be rosacea. Available at: https://www.self.com/story/is-your-acne-actually-rosacea. Accessed: Aug 2021.

13.Del Rosso, et al., Journal of Clinical and Aesthetic Dermatology, 2019. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6624012/. Accessed: Aug 2021.

14.Mayo Clinic, 2020. Ocular rosacea. Available at: https://www.mayoclinic.org/diseases-conditions/ocular-rosacea/symptoms-causes/syc-20375798. Accessed: Aug 2021.

15.Mayo Clinic, 2020. Ocular rosacea. Available at: https://www.mayoclinic.org/diseases-conditions/ocular-rosacea/symptoms-causes/syc-20375798. Accessed: Aug 2021.

16.WebMD, 2020. What is ocular rosacea? Available at: https://www.webmd.com/eye-health/what-is-ocular-rosacea. Accessed: Aug 2021.

17.WebMD, 2020. A visual guide to rosacea. Available at: https://www.webmd.com/skin-problems-and-treatments/ss/slideshow-visual-guide-to-rosacea. Accessed: Aug 2021.

18.Journal of Drugs in Dermatology, 2020. Rationale for use of combination therapy in rosacea. Available at: https://pubmed.ncbi.nlm.nih.gov/33026776/. Accessed: Aug 2021.