Overview of alopecia 

Understanding what alopecia is first is important for understanding the ophiasis type. Alopecia is a genetic and hereditary medical condition which causes hair loss, and it is prevalent in both people assigned male and female at birth. Alopecia can be studied differently amongst them, through genetics, the patterns of hair loss, and the age at which alopecia is first seen.¹

In this article, all aspects of ophiasis alopecia will be discussed, from its history and how and what it was identified as, as well as possible causes, symptomatology, diagnosis, and treatment options.

History of ophiasis alopecia

Ophiasis alopecia is a derivative of alopecia areata, which is hair loss in a wave-shaped manner around the circumference of the head. The part of ophiasis alopecia that separates it from other types of alopecia areata is that the primary region of hair loss is on the occipital region of the scalp, in other words, the back of the head. The term “ophiasis” is derived from the Greek term “ophis”, which means snake. This is because when the hair loss occurs, it happens in a wavy, snake-like pattern around the circumference of the head originating on the occipital (back) region.^1,2

The statistical probability of an individual having alopecia is around 2.11%. Out of that, 0.02% of patients have ophiasis alopecia, therefore, this type of hereditary alopecia is considered rare.³

Understanding the possible causes of alopecia, specifically ophiasis alopecia, is important because determining the cause of the disorder amongst individuals increases the likelihood of finding a suitable treatment.² 

Causes of ophiasis alopecia

Ophiasis alopecia has many causes, including environmental and genetic causes, or it can be developed as a secondary condition from a primary, more prevalent issue.

Autoimmune nature 

Ophiasis alopecia is classed as an autoimmune disorder, in which the immune system cells in your body attack your own cells rather than foreign organisms. In this case, white blood cells attack hair follicles.² This is because the immune system observes hair follicles as pathogenic and exogenous (not from this body), thus mistakenly attacks the follicle. This is also why, upon diagnosis and development of symptoms, many patients find it difficult to grow hair back initially. Furthermore, not only is alopecia ophiasis an autoimmune disorder itself, but it may also increase the risk of developing other autoimmune disorders. The most common autoimmune disorders linked to ophiasis alopecia are:⁴

• Thyroid disorders (specifically hypothyroidism)
• Vitiligo
• Furunculosis (boils)
• Lichen planus 
• Lichen sclerosus

Genetic predisposition

Since alopecia ophiasis is a genetic disorder, many genes play a role in the predisposition, onset, and severity of an individual. Genes are small sections of genetic code found in DNA, and they code for proteins. The genes associated with the onset of ophiasis alopecia are:

• HLA: mutations in HLA-DRB1 are a large hallmark characteristic of this disease⁵
• NKG2D and its binding molecules: they are both mutated. These genes depict the symptoms and physiological effects in the body after developing ophiasis alopecia⁶
• Cytokine genes: cytokines are signalling protein chemicals of the immune system. An increase in proinflammatory and a decrease in inhibitory cytokines have been found in ophiasis alopecia. This could be a reason why the immune system is able to act mistakenly.⁷

Environmental factors

Similar to genetic factors, environmental triggers play a crucial role. Sometimes genes are inactive, and an environmental trigger activates them, hence leading to the onset of ophiasis alopecia. All these different environmental factors can affect the onset, development and symptoms of ophiasis alopecia. Below are listed some common triggers of ophiasis alopecia and how they result in the onset of this disease:¹

• Emotional stress
• Physical stress 
• Vaccinations 
• Viral infections 
• Particular treatments, such as anticoagulants, antihypertensives, hormonal medication, anticonvulsants, mood stabilisers, antidepressants, chemotherapy, statins, and vitamin A.

All of these are able to trigger the loss of immune system function, with stress and viral infections being the major triggering components. These two components can inhibit the production of cytokines by mutating the gene or stopping it from being processed to produce cytokine proteins. This leads to genetic abnormalities in the genes (as listed in the genetic predisposition section), hence triggering the onset of ophiasis alopecia.¹

Symptoms

Some of the symptoms of ophiasis alopecia are listed below:¹

• A bald ‘band’ - which refers to the wave-shaped hair loss originating on the back of the head 
• Miniaturised hairs - the hair follicle shrinks and forms thinner hair
• Dots on trichoscopy - the formation of yellow, white or black dots on the scalp 
• Nail growth changes - they might become pitted, or the nails might form ‘ridges’
• Visible opening where hair follicles used to be

Pattern of hair loss 

There is a specific pattern of hair loss that characterises ophiasis alopecia. Hair loss in ophiasis alopecia happens in specific regions, starting in the occipital (back of the head) area and extending to the temporal (side) regions. The hair loss does not occur in straight lines or patches, it occurs in a band-like pattern.

Progression 

Ophiasis alopecia progresses over time. For some individuals, hair loss might stop, and regrowth of the hair cells is likely, but it cycle is unpredictable. For others, hair might never regrow, or it might regrow and then never fall out again.

Diagnosis 

Diagnosis commonly starts with general practitioners (GPs), who assess the pattern of hair loss that occurs on the patient’s head. Sometimes GPs are able to diagnose the patient in the clinic; however, most of the time the patient is referred to a dermatologist or a trichologist.

Trichologists usually examine the head, scalp and remaining hair, diagnose the patient, and set a treatment plan targeted for that specific patient. Some of the diagnostic methods used in ophiasis alopecia have been listed below:

• Punch biopsy: it is carried out by removing a small piece of scalp skin and then analysing it under a high magnification microscope. The purpose is to diagnose the cause of the hair loss and distinguish it from other types of alopecia. Skin biopsies usually find the cause of the hair loss, often being alopecia, but sometimes the biopsy reveals another skin condition that could be the cause of the hair loss instead
• Physical examinations 
  • Blood tests: they are carried out to identify a nutrient deficiency or a medical condition that may be causing the alopecia
  • Trichoscopy: it is a non-invasive procedure that allows trichologists or dermatologists to diagnose patients with any type of alopecia or hair condition. They involve a device ( digital dermatoscope) that is placed on the scalp and moved around to see its condition, thus allowing specialist doctors to determine the state of the scalp and the extent to which an individual might have a condition

Treatment options

There are a variety of treatment options available for patients with ophiasis alopecia. Many of these options usually target the more severe symptoms and aim to stimulate hair growth. In some cases, the treatment might aim to stop the onset or development of ophiasis alopecia by blocking the immune system (thus preventing it from attacking the hair cells), or target the genes that are mutated and revert them back to the non-mutated version. With these ideas in mind, here are some possible treatment options:

• Topical treatments: These are applied directly to the hair or scalp. Examples include corticosteroids or minoxidil (Rogaine), which is used to stimulate hair growth⁸
• Oral medications: some examples of these are methotrexate and cyclosporine, which are immunosuppressants, and corticosteroids, which aim to stimulate hair growth and reduce inflammation⁹
• Advanced therapies: JAK inhibitors like tofacitinib are used to block JAK enzymes, which have an important role in immune cell signalling and stop cytokine signalling, lowering the immune system activity.^10,11 The effect of preventing these signalling pathways is that it prevents the immune system from attacking hair cell follicles.¹² Other examples of advanced therapies include Platelet-Rich Plasma (PRP) therapy and low-level light therapy (laser treatments)¹³

Summary

In this article, the rare derivative of alopecia, ophiasis alopecia, has been briefly outlined. It causes hair loss originating on the occipital region of the head and making its way around the sides in a wavy, snake-like pattern. Ophiasis alopecia is an autoimmune disorder because the immune system attacks the hair follicles. Since this disease is hereditary, genetic mutations in the HLA-DRB1 gene and cytokine signalling genes are highlighted to be associated with the onset of ophiasis alopecia, as well as environmental factors, such as stress, infections, and medications. Symptoms include the wavy hair loss around the head, miniaturised hairs, scalp dots, and nail abnormalities. Clinical examination, scalp biopsies, and trichoscopy aid diagnosis. Recommended treatments include corticosteroid topical treatments or immunosuppressants in the form of oral medication. Less common forms of treatment include light therapy, platelet-rich plasma therapy, and JAK inhibitor medication.