Chapter 19: Hair Disorders

The hair follicle is a complex structure which produces the hair fiber consisting of a cortex, medulla, and cuticle (Figures 19-1 and 19-2). Hair follicles demonstrate the unusual ability to completely regenerate themselves. Hair grows, falls out, and then regrows. In the normal human scalp, up to 90% of hair follicles are in the growth phase called anagen, 1% in the transition phase catagen, and up to 10% in telogen or the loss phase. The anagen phase lasts approximately 3 years, catagen 2 to 3 weeks, and telogen 3 months.¹

Hair disorders are broadly grouped into the following categories:

• The nonscarring alopecias associated with hair cycle abnormalities.

• The scarring or cicatricial alopecias associated with inflammation and injury to the stem cell region of the hair follicle.

Hair loss is common and can occur with a variety of medical conditions. The workup of a patient with a hair disorder starts with a thorough history and physical examination as outlined in Tables 19-1 and 19-2, respectively.

The nonscarring hair disorders associated with abnormalities in the hair cycle include three very common hair disorders:

• Androgenetic alopecia (AGA, with or without androgen excess)

• Alopecia areata (AA)

• Telogen effluvium (TE)

Androgentic alopecia occurs in genetically susceptible individuals in response to the conversion of testosterone to dihydrotestosterone (DHT) by 5-α reductase at the level of the hair follicle resulting in miniaturization and a shortened anagen phase of the hair cycle. AGA may be associated with hirsutism in women who have excess androgen production from the adrenal glands or ovaries or only in the end organ, the hair follicle.

Alopecia areata is an immune-mediated disease that targets the bulb region of anagen hair follicles resulting in a shortened anagen cycle. Telogen effluvium results when more follicles than usual transition to the telogen or loss phase of the hair cycle in response to a trigger. Two less commonly seen disorders of the hair cycle include hypertrichosis and generalized atrichia (absence of hair), a condition caused by a mutation in the hairless gene that results in normal hair follicle development but abnormal cycling in catagen. Hypertrichosis is defined as elongation of hair in nonandrogen-dependent areas and is commonly seen in patients treated with topical minoxidil or taking cyclosporine.

The scarring alopecias are characterized by lymphocytic, neutrophilic, or mixed inflammatory infiltrates that involve the bulge or stem cell region of the hair follicle, leading to fibrosis and permanent hair loss (Figure 19-1). The scarring alopecias may be primary or secondary as in the case of a burn or radiation injury, but in either case permanent loss of hair follicles occurs.

Hair loss may also occur with inherited or acquired structural hair abnormalities. When present, hair fibers break easily resulting in the chief complaint of "hair loss."

Examination of the patient presenting with a hair disorder and the chief complaint of "hair loss" should focus on assessing the presence or absence of the following:

• Vellus, indeterminate and terminal fibers ideally using scoring systems such as the Ludwig or Hamilton Norwood classification systems, or the Severity of AlopeciaScoring Tool (SALT score).^2–4 Vellus fibers are short, fine, light-colored, and barely noticeable. Terminal fibers are long, have a wider diameter, and are pigmented. Indeterminate fibers are somewhere in between vellus and terminal fibers.

• Scale, erythema, folliculitis, scarring, or atrophy in the affected area.

• Eyebrow, eyelash, or body hair loss.

• Nail abnormalities, which if present can be a clue to an underlying medical problem associated with the chief complaint of hair loss.

• Findings of androgen excess.

The following disorders are the most common causes of nonscarring alopecia.

• Androgenetic alopecia: Male and female pattern alopecia

• Alopecia areata

• Telogen effluvium

Introduction

Androgenetic alopecia (AGA) in males is commonly called male pattern baldness and is the most common type of hair loss in men, affecting approximately 50% of Caucasian men by age 50.^5–7 AGA is characterized by the progressive miniaturization of terminal hairs or shortening of the anagen phase and transition to "baby" vellus fibers on the scalp in a characteristic distribution frequently classified using the Hamilton–Norwood Scale (Figure 19-3A). AGA is considered to be an androgen-dependent trait and the mode of inheritance polygenic with variable penetrance. Balding usually starts in the late teens or early twenties. However, approximately 10% of males will bald in a pattern that resembles female AGA.

Androgenetic alopecia in females is also commonly called female pattern baldness and can be classified using the Ludwig classification scale (Figure 19-3B). Classic AGA in women is also polygenic and androgen dependent with full expression usually by the mid-twenties. This pattern of alopecia may also occur in the perimenopausal and menopausal periods and may be a presenting feature of ovarian or adrenal gland abnormalities. A clinically useful classification system for women with pattern thinning is as follows:

• Early onset

  • With androgen excess

  • Without androgen excess

• Late onset

  • With androgen excess

  • Without androgen excess

Clinical Presentation

History

Patients usually report increased hair shedding and a noticeable decrease in hair density following one of the patterns described previously.

Physical Examination

Males may present with balding initially in the bitemporal regions, followed by the vertex region and when extensive, the two areas are no longer separated as demonstrated in Type VI Hamilton balding (Figure 19-3A). Males may also bald with the thinning process occurring from the anterior scalp to the vertex. Females present with thinning in the frontal scalp region accompanied by an increase in the part width and retention of the frontal hairline. Some patients will also exhibit a "Christmas tree" pattern in the anterior scalp region.

The Hamilton Norwood or Ludwig classification systems can be used to document the extent of the pattern alopecia, respectively (Figure 19-4A and B). The physical examination should focus on the areas noted in Table 19-2.

Laboratory Findings

Usually no laboratory studies are required in the evaluation and management of male AGA. Women who present with pattern alopecia should be evaluated for associated medical conditions or nutritional deficiencies. A summary of recommended laboratory tests is presented in Table 19-3.

Diagnosis and Differential Diagnosis

The diagnosis of male AGA is usually straightforward. The diagnosis of female AGA /female pattern alopecia may be slightly more complicated as pattern thinning is common in women with metabolic or nutritional disorders.

The differential diagnosis includes diffuse alopecia areata and telogen effluvium both of which will be discussed next. A scalp biopsy may be needed if there is difficulty making a diagnosis.

Management

Medical, surgical, cosmetic, and device treatments can be used to treat AGA. Medical treatments for male AGA include 5% topical minoxidil (Rogaine) in a foam or solution and finasteride (Propecia), an oral inhibitor of dihydrotestosterone (DHT) production. One ml of topical minoxidil should be applied twice daily to the affected area. Clinical response can vary with some men attaining significant hair regrowth while others experience only a reduction in hair loss. Treatment needs to be continued to maintain the result.

Two percent topical minoxidil is approved by the Food and Drug Administration (FDA) in the United States for women. In a double-blind controlled study using oral finasteride, 1 mg daily, no efficacy was demonstrated in postmenopausal women.⁶ For women with early- or late-onset pattern thinning and evidence of androgen excess, the use of antiandrogens may be beneficial.

A minimum of 6 months therapy is recommended to assess efficacy. The success of a therapeutic response is linked to a healthy scalp and any dermatitis or folliculitis should be managed concurrently.

Other treatment options include the use of the laser comb, a device that was recently approved in the United States for the management of male and female pattern thinning. Hair transplantation is also an option for patients with stable disease. Use of a scalp prosthesis or camouflaging agents such as hair fibers, powder cakes, scalp lotions, or scalp sprays may also be recommended.

Introduction

Alopecia areata (AA) is considered to be a complex genetic, immune-mediated disease that targets anagen hair follicles.^8,9 It is estimated that AA affects between 4 and 5 million individuals in the United States. In AA, the hair follicle is not destroyed and maintains its potential to re-grow hair. The presence of severe nail abnormalities, atopy (asthma, allergic rhinitis, and atopic dermatitis), onset of extensive disease in children less than 5 years of age as well as alopecia totalis or universalis lasting more than 2 years, have all been implicated as negative prognostic indicators. Both males and females of all ages can be affected and there is no known race or ethnic preponderance. AA reportedly affects 1% to 2% of the population and has a lifetime risk of 1.7%. Up to 80% of cases are considered to be sporadic. AA has been reported to occur in all age groups, males and females, and all races.

Clinical Presentation

History

Patients typically complain of asymptomatic patchy hair loss from any hair-bearing area. However, some patients may report a tingling or pruritic sensation with hair loss or hair regrowth.

Physical Examination

The key diagnostic features are round or oval patches of hair loss, loss of all scalp hair (alopecia totalis), loss of all body hair (alopecia universalis), or ophiasis pattern hair loss (Figure 19-5A to D). AA may target any hair-bearing area as well as the nail matrix resulting in benign (ie, pitting) to severe nail disease (ie, onychodystrophy). Some patients may also present with a diffuse decrease in scalp hair density. Patches may resolve spontaneously, persist or recur. Episodes may last for days to months to years.

The Severity of Alopecia Scoring Tool (SALT) can be used to provide an assessment of scalp hair loss and can be used as a tool to monitor therapy.⁴ Disease activity can be assessed by doing light hair pull tests (Figure 19-6). Describing the types of fibers present on the scalp may be helpful with setting treatment expectations. A complete examination as outlined in Table 19-2 should be done and any dermatitis present should be treated.

Laboratory Findings

AA may occur with other immune-mediated diseases so in addition to the laboratory studies noted in Table 19-3, additional autoantibody and immune studies may be indicated based on the history and physical examination.

Diagnosis and Differential Diagnosis

AA is usually quite easy to diagnose. Hair diseases in the differential diagnosis for patchy disease include tinea capitis and trichotillomania, a hair disorder characterized by hair pulling in unique shapes. The differential diagnosis for extensive AA includes papular atrichia as well as an ectodermal dysplasia. For patients with the diffuse variant of AA, the clinical picture may be confused with telogen effluvium or in some cases, pattern alopecia. If the diagnosis is not straightforward, examination of a 4-mm scalp biopsy specimen may be beneficial and will demonstrate peribulbar lymphocytes around affected anagen follicles.

Management

No drug is currently approved by the FDA in the United States for the treatment of AA. Many therapies are available and current treatment choices are frequently based on disease extent, duration, and age of the patient. In some situations, patients may choose "no treatment." Spontaneous remission can occur as is seen with other autoimmune diseases. Commonly used treatments for patchy disease include application of topical class I steroids or intralesional triamcinolone acetonide (Kenalog) up to 10 mg/cc, 4 cc per session every 6 weeks. Topical minoxidil is commonly added if there are vellus or indeterminate fibers present. Topical anthralin is another option. Steroid side effects need to be monitored and irritation from anthralin may prevent its use. For active disease characterized by positive hair pull tests and progressive hair loss, oral corticosteroids may be given in a tapering course over several weeks in an attempt to halt disease activity and in some cases, therapy may also be associated with hair growth. A problem with oral corticosteroid therapy is that treatment may be associated with sustained hair regrowth in only about a third of treated patients. Other patients will be steroid nonresponders or require ongoing treatment to maintain hair growth.

Extensive AA (alopecia totalis and alopecia universalis) in both children and adults can be very challenging to treat and many treatments are available. These include not only oral prednisone but also other immunosuppressive drugs, pulse methylprednisolone, narrow band ultra violet B-light, and combination therapy.

Assessing efficacy of treatments for patchy and extensive AA is complicated by the fact that there are few published randomized controlled trials. There are many published uncontrolled trials and reports with nonideal criteria to evaluate treatment. Long-term follow-up is unfortunately not included in most of the published works. More clinical and translational research is forthcoming.

Introduction

Telogen effulvium (TE) is a very common hair loss condition that can be seen in all races and ethnic groups.^10–12 The chief complaint is increased hair shedding that is the result of a shortened anagen phase and premature conversion to telogen (Figure 19-7A). TE has been categorized into different subsets, which may be helpful in explaining the process to patients. Some examples are given below.

• Immediate anagen release occurs after a high fever or illness.

• Delayed anagen release occurs in the postpartum period.

• Short anagen is seen in patients who report not having to cut their hair frequently or that their hair does not grow.

• Immediate telogen release is typically seen after beginning topical minoxidil.

• Chronic TE is commonly reported in middle-aged women in their fourth to sixth decades (Figure 19-7B).

Clinical Presentation

History

The chief complaint is increased scalp hair shedding related to a trigger. TE can be associated with the onset of AGA, the postpartum period, medications, weight loss, endocrine disorders, physiological and metabolic stress, nutritional deficiencies, acute and chronic illness, after surgeries, and with scalp inflammation. When the inciting trigger can be identified and be removed or treated, hair shedding may diminish and regrowth may occur.

Physical Examination

The assessment of telogen hair loss may be made using several methods, two common methods include:

• Hair pluck. Approximately fifty hairs are plucked using a rubber-tipped hemostat and the anagen–telogen ratio is assessed by examination of the hair bulbs.

• Collection of fibers shed daily for at least 1 to 2 weeks. The scalp should be shampooed daily and fibers collected daily after shampooing and put into dated, labeled envelopes. Anagen and telogen fibers are then qualitatively assessed. If shampooing is less frequent, it is to be expected that there will be a greater number of shed telogen fibers in the sample collected on a shampoo day as hair cycling continues on a daily basis and telogen fibers "rest" in follicles and are then released with the shampoo process.

Laboratory Findings

If a patient is taking several supplements, additional laboratory studies to those outlined in Table 19-3 may need to be ordered. For example, high levels of Vitamin A or E may be associated with scalp hair shedding.

Diagnosis and Differential Diagnosis

The diagnosis of TE can be established with the hair pluck test or sample collection as described previously. A scalp biopsy may also be done to confirm the shift to telogen.

The differential diagnosis includes diffuse AA, AGA, and possibly an inflammatory alopecia such as central centrifugal alopecia or lichen planopilaris, especially when the hair loss is primarily in the central scalp region.

Management

Successful treatment depends on controlling transitions between stages of the hair cycle and moving follicles from telogen to anagen. Topical minoxidil does induce anagen differentiation and may be tried. Currently there are no good tools to easily and safely control hair cycle transitions.

Introduction

The pathogenesis of the cicatricial or scarring alopecias is not well understood.^13,14 The early stages of the cicatricial alopecias may be distinguished clinically, but the end stages are indistinguishable and are all characterized by permanent injury and scarring.

The cicatricial alopecias are unique clinically and histologically. They are broadly characterized by their inflammatory infiltrate, either lymphocytic, neutrophilic, or mixed. Treatments may control signs and symptoms but do not normally influence the underlying disease process and when discontinued, clinical activity frequently recurs.

Clinical Presentation

History

Affected patients will frequently complain not only of hair loss, but also severe pain or burning. Some patients may describe their scalp "being on fire" while others will be almost asymptomatic.

Physical Examination

The cicatricial alopecias are categorized clinically and histologically and are described as lymphocytic or neutrophilic or mixed.

Some of the more common lymphocytic cicatricial alopecias include:

• Lichen planopilaris (Figure 19-8)

• Frontal fibrosing alopecia (Figure 19-9)

• Discoid lupus erythematosus (Figure 19-10)

• Central centrifugal scarring alopecia (Figure 19-11)

Common neutrophilic cicatricial alopecias include:

• Folliculitis decalvans (Figure 19-12)

• Dissecting cellulitis (Figure 19-13)

Examples of mixed cicatricial alopecias include:

• Acne keloidalis (Figure 19-14)

• Acne necrotica

• Erosive pustular dermatosis, an idiopathic, chronic, relapsing pustular dermatosis of the scalp that is frequently preceded by a history of trauma.

Laboratory Findings

There are no required blood tests for patients with cicatricial alopecias. Bacterial cultures may be beneficial if the pustular component does not respond to standard treatment. In some cases, a scalp biopsy for tissue culture will be needed to isolate the organism contributing to the ongoing inflammatory process. Staphylococcus aureus is commonly found on tissue culture examination.

Diagnosis and Differential Diagnosis

The diagnosis of a cicatricial alopecia can be made clinically but when in doubt a scalp biopsy from an active area for histologic examination may be done to confirm the diagnosis as well as to assess the degree and extent of inflammation and follicle injury. If the question is whether there are any hair follicles left in the clinically scarred area that can respond to medical therapy, a biopsy may be helpful to confirming the presence or absence of any hair follicles.

Management

The choice of treatment for the lymphocytic cicatrical alopecias is usually based on clinical activity, severity of symptoms, and disease activity. Treatments can be grouped into three tiers.

• Tier 1 treatments for patients with limited active disease include topical high potency corticosteroids or intralesional steroids or topical nonsteroidal anti-inflammatory creams such as tacrolimus or pimecrolimus.

• Tier 2 treatments for patients with moderate disease include hydroxychloroquine, low dose oral antibiotics for their anti-inflammatory effect, or specific antimicrobial effect or acitretin.

• Tier 3 treatments include immunosuppressive medications such as cyclosporine, prednisone, or mycophenolate mofetil.

For patients experiencing a neutrophilic cicatricial alopecia, pustules should be cultured and antibiotic sensitivities determined. Treatment may be needed for months. The addition of prednisone may improve efficacy and the use of retinoids may or may not be helpful. Oral l-tyrosine administration, laser hair removal, and intranasal eradication of S. aureus have all also been advocated.

Significant scientific breakthroughs related to lipid metabolism abnormalities involving peroxisomes and peroxisome proliferator-activated receptor gamma (PPAR-γ) have been made recently in the cicatricial alopecias. This has opened the opportunity to consider the use of drugs such as pioglitazone hydrochloride in affected individuals.

For patients experiencing a mixed type of cicatricial alopecia, treatments can be any combination of those recommended for the lymphocytic or neutrophilic cicatricial alopecias.

Introduction

Hirsutism is defined as the presence of terminal hair growth following a similar pattern to that developing in androgen-dependent sites in men after puberty (Figure 19-15).^15,16 Two to eight percent of the American population are considered to have hirsutism depending on the chosen cutoff for the Ferriman–Gallwey score, a scoring system in which 9 androgen-sensitive sites (upper lip, chin, chest, upper and lower abdomen, arms, thighs, upper back, and lower back) are assessed, with a maximum grade of 4 points for each area. The degree of hair growth in each area is graded from 1 (minimal terminal hair growth) to 4 (frank virilization). The scores are then summed with a total score of 8 or more indicating hirsutism.

Hirsutism may be inherited. It is well known that East Asian, North Asian, and Southeast Asian populations have less body hair and a lower incidence of hirsutism than do Caucasians, or those of West Asian or Middle Eastern descent. Hirsutism may also be drug induced or associated with aging.

Pathophysiology

Hirsutism can also be caused by any of the following:

• An increase in the actual amount of androgens produced by any of the three major sources of androgens: the ovaries, adrenal glands, or skin.

• An increase in androgen receptor sensitivity at the level of the hair follicle.

• Enhanced activity of 5-α reductase.

Two ovarian causes of hirsutism include polycystic ovarian syndrome and ovarian tumors. Two adrenal gland causes include congenital adrenal hyperplasia with 21-hydroxylase deficiency being most common and adrenal gland tumors. Other less common causes of congenital adrenal hyperplasia include 11β-hydroxylase deficiency and 3β-ol-dehydrogenase deficiency.

Clinical Presentation

History

Women with hirsutism will present with concerns about increased dark hair growth on any or all of the following areas: upper lip, chin, chest, upper and lower abdomen, arms, thighs, upper back, and lower back.

Physical Examination

The examination should be directed toward describing (1) the location and amount of excess terminal hair growth using the Ferriman–Gallwey scale and (2) identifying other signs of androgen excess including the following:

• Alopecia

• Acne

• Deepening of the voice

• Clitoral enlargement

• Signs of Cushing's syndrome

  • Central obesity

  • Acanthosis nigricans

  • Striae

  • Buffalo hump

Laboratory Findings

In addition to checking a testosterone level and when indicated, dihydrotestosterone and dehydroepiandrosterone sulfate levels, the following may be useful in ruling out a secondary cause of hirsutism:

• Androstenedione

• Dexamethasone suppression test

• Follicle stimulating hormone

• Luteinizing hormone

• Serum prolactin

• Thyroid studies

• 17-hydroxyprogesterone level

Diagnosis and Differential Diagnosis

Hirsutism can be end organ specific (hair follicle androgen excess only), inherited or associated with ovarian or adrenal gland disease. Hirsutism may also be associated with hyperprolactinemia, acromegaly, postmenopausal androgen therapy, thyroid dysfunction, and use of anabolic steroids.

Management

13.9% Eflornithine (Vaniqa) cream is FDA approved for the management of hirsutism and is applied topically twice a day. Several other medications can also be used off-label to treat hirsutism. The risk/benefit ratio of each of these drugs needs to be carefully considered when prescribing any of the following for the medical management of hirsutism.

Medications prescribed for hirsutism include spironolactone, finasteride, flutamide, cyproterone acetate as well as leuprolide acetate, bromocriptine, and metformin. Any combination or oral contraceptives can be used but those with non-androgenic progestins are considered to be the best. Adrenal gland suppression of androgen production can be obtained with dexamethasone or prednisone.

Mechanical treatments are also available for managing hirsutism. These include epilation with tweezing, waxing, sugaring or threading, chemical depilation, bleaching, electrolysis, light treatment with intense pulse light (IPL), the diode, or Nd:YAG laser. The latter can be safely and effectively used to treat individuals with light and darker-skin pigmentation.

Indications for Consultation

A consultation to dermatology should be requested when the hair disease is difficult to diagnosis or if the hair loss or excessive hair growth are progressing despite appropriate therapy. If anxiety about hair loss and change in body image are the main problems, consider referral to psychology or psychiatry. If androgen excess with associated scalp hair thinning and hirsutism persists despite appropriate therapy, a referral to endocrinology is recommended.

Patient Information

• The Cicatricial Alopecia Research Foundation (CARF) www.carfintl.org supports research and provides excellent information for patients with any cicatricial or scarring alopecia.

• The National Alopecia Areata Foundation (NAAF) www.naaf.org supports research and patients and families dealing with alopecia areata.

• The North American Hair Research Society (NAHRS) www.nahrs.org/Cached-Similar is another source of information.