What is Rosacea?
Rosacea is a common inflammatory facial skin disorder classically marked by flushing, facial erythema, inflammatory papules and pustules, and telangiectasias. It typically presents in adults, with a reported prevalence of 1% – >20% and affects females predominantly. Whether rosacea exists in children and adolescents is debated in the literature. Individuals in all racial and ethnic groups may be affected by rosacea. Patients often report a strong familial history of rosacea; individuals of Celtic background are commonly affected.
The classification of rosacea was previously based on the predominant cutaneous morphologic features classified as subtypes (erythemato-telangiectatic, papulopustular, phymatous and ocular). In 2017, the National Rosacea Expert Committee reclassified the disease into diagnostic, major, and secondary phenotypes . Phenotypes are individual features of rosacea that can span multiple subtypes and include the pathophysiology and overlapping nature of the features of rosacea. Diagnostic phenotypes include fixed centrofacial erythema and phymatous changes. One of these diagnostic phenotypes is enough to diagnose a patient with rosacea. In the absence of either diagnostic phenotype, a patient must have 2 of the following major phenotypes: 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. Secondary phenotypes occur with either diagnostic or major phenotypes: 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. Secondary phenotypes by themselves are not enough to meet the diagnostic criteria of rosacea. Treatment is largely targeted at the key skin characteristics. However, rosacea is a condition with many faces. It is important to recognize that facial erythema is present in almost all diagnostic and major phenotypes of rosacea, and many phenotypes of rosacea will overlap within an individual patient [2-4]. The new phenotype classification of the features of rosacea can be very useful in research; however, many clinicians continue to use the subtype classification (erythemato-telangiectatic, papulopustular, phymatous and ocular) in practice.
The Diagnostic Phenotypes Of Rosacea
|Diagnostic Phenotypes*||Major Phenotypes**||Secondary Phenotypes***|
|Fixed centrofacial erythema||Dome-shaped red papules and pustules||Burning sensation|
|Phymatous changes||Facial flushing or blushing||Stinging sensation|
|Ocular manifestations: lid margin telangiectasias, interpalpebral conjunctival injection, spade shaped corneal infiltrates, scleritis, and sclerokeratitis||Dryness or scaliness|
|Ocular manifestations: Honey crust or collarettes at the base of the lashes, irregularity of the lid margin, and evaporative tear dysfunction|
|*1 is required to meet diagnostic criteria||**2 are required to meet diagnostic criteria||***Secondary phenotypes are not enough by themselves to meet diagnostic criteria for rosacea|
Rosacea typically affects the central face: cheeks, chin, forehead and nose. In rare cases, it will also present on the ears. The hallmark sign of rosacea is persistent facial erythema. Patients first experience intermittent facial flushing that results in persistent facial erythema and is sometimes followed by development of papulopustular lesions, and rarely, phymatous changes. Patients with persistent facial erythema and flushing often report highly sensitive, cosmetically intolerant skin that likely stems from an abnormal skin barrier. Patients with rosacea can also present with centrofacial papules and pustules with fixed erythema or facial flushing that is sometimes mistaken for acne vulgaris. Key clinical features that distinguish the papules and pustules of rosacea from acne vulgaris are the presence of flushing, absence of comedones, and commonly, the absence of nodulocystic lesions and scarring.
Phymatous rosacea is a rare finding compared to the other clinical features of rosacea and is seen almost exclusively in males. It is characterized by highly glabrous skin, sebaceous hyperplasia, and firm induration of the skin (resulting from fibrosis) that can be cosmetically disfiguring in appearance. The nose is the most common site of phymatous rosacea, termed rhinophyma, but the ears (otophyma), chin (gnathophyma), forehead (metophyma), and eyelids (blepharophyma) can also be affected. Ocular rosacea is estimated to affect almost half of patients with cutaneous rosacea. Ocular symptoms of rosacea include blepharitis, conjunctivitis, or keratitis. Patients may complain about bloodshot eyes, foreign body sensation, excessive tearing, light sensitivity and blurred vision. It is important for clinicians to recognize this ocular form of rosacea, as can result in devastating visual impairment primarily due to chronic keratitis and scleritis if left untreated.
Patients with rosacea commonly report flushing as a preceding symptom and identify clear triggers of flushing: sun exposure, stress, hot and cold weather, temperature changes, physical exercise, hot beverages, alcohol consumption, and spicy foods. Rarely, medications (such as niacin used for cholesterol or vasodilators) can cause flushing that will exacerbate a flare of rosacea.
The etiology of rosacea is unknown. Investigators hypothesize that rosacea stems from a constellation of abnormalities of skin, small cutaneous blood vessels and nerves and the surrounding connective tissue, and an abnormal inflammatory response. Chronic inflammation is the hallmark of rosacea, and it underlies many of the clinical signs and symptoms of the disease. Recent studies have highlighted the role of key innate immune factors, including antimicrobial peptides (cathelicidin, LL-37, beta-defensins), serine protease enzymes, and Toll-like receptors (TLRs) in mediating inflammation. The articulation between the cutaneous nervous system and vasculature, largely through key neuropeptides, may also promote inflammation and may also underlie the complaint of stinging or sensitivity of skin that is frequently reported by patients with rosacea. The contribution of the commensal cutaneous mite, Demodex folliculorum, is speculated, as patients with rosacea have numerous mites and inflammatory pathways that link these mites back to key immunologic mediators known to play an important role in pathogenesis of rosacea. Demodex mites may play a particularly important role in the rare papulovesicular variant of rosacea that is best treated by therapies that target this cutaneous mite. The efficacy of a newly approved agent, topical ivermectin 1% cream, the dual mechanisms of which include anti-parasitic activity, suggests the importance of this cutaneous mite in the pathophysiology of disease.
There is currently no definitive cure for rosacea. The most important principle of rosacea therapy is that it is a chronic condition that must be managed over time. Despite the best treatment plans, patients commonly relapse and remit. Avoidance of triggers is the foremost recommendation, thus patients with rosacea must be counseled carefully in their pivotal role in managing their disease (see treatment for rosacea). Most patients with rosacea will require some type of additional treatment on a long-term basis for maintenance of their disease. For the most common feature of rosacea, lasers and intense pulsed light devices are used for telangiectasia and redness with variable efficacy. Topical brimonidine gel (Mirvaso) is a recently approved medication indicated for the treatment of facial erythema in rosacea, representing a novel approach to the treatment of intermittent or persistent facial flushing of rosacea. Another new approved therapy for rosacea is topical oxymetazoline cream (Rhofade), the same active ingredient in Afrin nasal spray, a vasoconstrictor that is effective in treating the facial erythema of rosacea. New recommendations based on the phenotypic presentation of rosacea now include therapy tailored to the patient. For example, the intermittent flushing of rosacea can be managed by beta blockers and topical alpha adrenergic agonists such as topical brimonidine gel and oxymetazoline cream. Once the patient has progressed to persistent facial flushing, treatments such as brimonidine gel, oxymetazoline cream, or laser therapies may be more effective.
Patient education is a key principle in the management of rosacea, and most experts incorporate advice on potential trigger factors and on the use of gentle, non-irritating skin care products. To hydrate the skin and restore skin barrier, facial moisturizers should be recommended; restoration of a normal skin barrier may in turn alleviate symptoms of cosmetic intolerance and also mitigate skin inflammation. Protection from ultraviolet light is paramount, for which physical coverage and sunscreens are first-line (to reflect light and heat that can exacerbate flushing). Camouflage techniques, especially with green tint-containing make-up, can be employed to mask facial redness.
Though rosacea primarily affects the face and eyes, it can cause significant detriment on quality of life due to both physical discomfort and impact on self-esteem (see Living with Rosacea: Impact on Quality of Life). 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.
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. As many patients exhibit overlapping features, it is imperative that the clinician correctly identify them at presentation and target them using appropriate therapies for the corresponding features, eg, persistent or intermittent flushing, facial papules/pustules, telangiectasias, and phymatous changes. Patient education on skin care, photoprotection, and trigger avoidance is also essential. Clinicians should also 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.