Trichorrhexis invaginata (also known as "Bamboo hair" ) is a distinctive hair shaft abnormality that may occur sporadically, either in normal hair or with other hair shaft abnormalities, or regularly as a marker for Netherton's syndrome. The primary defect appears to be abnormal keratinization of the hair shaft in the keratogenous zone, allowing for intussusception of the fully keratinized and hard distal shaft into the incompletely keratinized and soft proximal portion of the shaft.

In 1937, Touraine and Solente first noted the association between hair-shaft defects (bamboo node) and ichthyosiform erythroderma. Còme first coined the term ichthyosis linearis circumflexa in 1949, although Rille had previously recorded the distinctive features of ichthyosis linearis circumflexa by 1922. In 1958, Netherton described a young girl with generalized scaly dermatitis and fragile nodular hair-shaft deformities, which he termed trichorrhexis nodosa. Later, this was more appropriately renamed as trichorrhexis invaginata (bamboo hair) for a ball-and-socket–type hair-shaft deformity at the suggestion of Wilkinson et al.

In 1974, Mevorah et al. established the clinical relationship between ichthyosis linearis circumflexa and Netherton syndrome, and an atopic diathesis was found to occur in approximately 75% of patients with Netherton syndrome.

Hypotrichosis ("" + "" + "") is a condition of abnormal hair patterns, predominantly loss or reduction. It occurs, most frequently, by the growth of vellus hair in areas of the body that normally produce terminal hair. Typically, the individual's hair growth is normal after birth, but shortly thereafter the hair is shed and replaced with sparse, abnormal hair growth. The new hair is typically fine, short and brittle, and may lack pigmentation. Baldness may be present by the time the subject is 25 years old.

Hypotrichosis is a common feature of Hallermann–Streiff syndrome as well as others. It can also be used to describe the lack of hair growth due to chemotherapy.

The opposite of hypotrichosis is hypertrichosis, where terminal hair (thick) grows in areas that would otherwise normally have vellus hair (thin), for example abnormally thick facial hair growth in women.

Among the symptoms(and signs) for this condition are the following:

- lack of apparent hair growth

- hair appears patchy

- hair breaks easily close to scalp

- hair may have thickenings or nodes in the shaft

- ends of hair thinned or split

- whitish discoloration of hair tips

- hair breaks easily at tips

Congenital forms of hypertrichosis are caused by genetic mutations, and are extremely rare, unlike acquired forms. Congenital hypertrichosis is always present at birth.

- Hypertrichosis lanuginosa

Congenital hypertrichosis lanuginosa is noticeable at birth, with the infant completely covered in thin lanugo hair. In normal circumstances, lanugo hair is shed before birth and replaced by vellus hair; however, in a person with congenital hypertrichosis lanuginosa, the lanugo hair remains after birth. The palms of the hands, soles of the feet, and mucous membranes are not affected. As the person ages, the lanugo hair may thin, leaving only limited areas of hypertrichosis.

- Generalized hypertrichosis

Congenital generalized hypertrichosis causes males to exhibit excessive facial and upper body hair, whereas women exhibit less severe asymmetrical hair distribution. The palms, soles, and mucous membranes are not affected.

- Terminal hypertrichosis

Congenital terminal hypertrichosis is characterized by the presence of fully pigmented terminal hair that covers the entire body. This condition is usually accompanied by gingival hyperplasia. This form is most responsible for the term "werewolf syndrome" because of the thick, dark hair that appears. People with this condition are sometimes performers at circuses because of their unusual appearance.

- Circumscribed hypertrichosis

Congenital circumscribed hypertrichosis is associated with the presence of thick vellus hair on the upper extremities. Circumscribed signifies this type of hypertrichosis is restricted to certain parts of the body, in this case, the extensor surfaces of the upper extremities. Hairy elbow syndrome, a type of congenital circumscribed hypertrichosis, shows excessive growth on and around the elbows. This type of hypertrichosis is present at birth, becomes more prominent during aging, and regresses at puberty.

- Localized hypertrichosis

Congenital localized hypertrichosis is a localized increase in hair density and length.

- Nevoid hypertrichosis

Nevoid hypertrichosis may be present at birth or appear later in life. It features an isolated area of excessive terminal hair and is usually not related to any other diseases.

Bubble hair deformity is an abnormality of the hair shaft.

It is characterized by rows of bubbles seen microscopically within localized areas of brittle hair.

Acquired hypertrichosis appears after birth. The multiple causes include the side effects of drugs, associations with cancer, and possible links with eating disorders. Acquired forms can usually be reduced with various treatments.

- Hypertrichosis lanuginosa

Acquired hypertrichosis lanuginosa is characterized by rapid growth of lanugo hair, particularly on the face. Hair also appears on the trunk and armpits, while palms and soles are unaffected. The excess hair is commonly referred to as malignant down. This hair is very fine and unpigmented.

- Generalized hypertrichosis

Acquired generalized hypertrichosis commonly affects the cheeks, upper lip, and chin. This form also affects the forearms and legs, but is less common in these areas. Another deformity associated with acquired generalized hypertrichosis is multiple hairs occupying the same follicle. It may also include abnormal hair growth patterns as what happens to the eyelashes in a condition known as trichiasis. Oral minoxidil treatments for hypertension are known to cause this condition. Topical minoxidil used for alopecia causes hair growth in the areas where it is applied, however this hair disappears shortly after discontinuing the use of topical minoxidil.

- Patterned hypertrichosis

Acquired patterned hypertrichosis is an increase in hair growth in a pattern formation. It is similar to acquired generalized hypertrichosis and is a sign of internal malignancy.

- Localized hypertrichosis

Acquired localized hypertrichosis is an increase in hair density and length often secondary to irritation or trauma. This form is restricted to certain areas of the body.

Examination of the hair shafts with a microscope may reveal changes of trichorrhexis nodosa.

Intermittent hair–follicle dystrophy is a disorder of the hair follicle leading to increased fragility of the shaft, with no identifiable biochemical disturbance, also with an unknown prevalence.

Other syndromes with hair abnormalities may also show features of uncombable hair syndrome such as Rapp–Hodgkin ectodermal dysplasia syndrome, loose anagen syndrome, EEC syndrome (ectodermal dysplasia, ectrodactyly and cleft lip/palate) and familial tricho-odonto-onychial ectodermal dysplasia with syndactyly. However, unlike these conditions, uncombable hair syndrome alone is not associated with physical, neurologic, or mental abnormalities.

Netherton syndrome is characterized by chronic skin inflammation, universal pruritus (itch), severe dehydration, and stunted growth. Patients with this disorder tend to have a hair shaft defect (trichorrhexis invaginata), also known as "bamboo hair". The disrupted skin barrier function in affected individuals also presents a high susceptibility to infection and allergy, leading to the development of scaly, reddish skin similar to atopic dermatitis. In severe cases, these atopic manifestations persist throughout the individual's life, and consequently post-natal mortality rates are high. In less severe cases, this develops into the milder ichthyosis linearis circumflexa.

Netherton syndrome has recently been characterised as a primary immunodeficiency, which straddles the innate and acquired immune system, much as does Wiskott-Aldrich syndrome. A group of Netherton patients have been demonstrated to have altered immunoglobulin levels (typically high IgE and low to normal IgG) and immature natural killer cells. These Natural Killer cells have a reduced lytic function; which can be improved with regular infusions of immunoglobulin (see 'Treatment'); although the mechanism for this is not clear.

Patients are more prone than healthy people to infections of all types, especially recurrent skin infections with staphylococcus. They may have more severe infections; but are not as vulnerable to opportunistic pathogens as patients with true Natural Killer cell deficiency-type SCID.

The hair is normal in quantity and is usually silvery-blond or straw-colored. It is disorderly, it stands out from the scalp, and cannot be combed flat. The underlying structural anomaly is longitudinal grooving of the hair shaft, which appears triangular in cross section. This is caused by mutations in one of three possible genes; "PADI3", "TGM" or "TCHH3." The characteristic hair shaft anomaly can be demonstrated in asymptomatic family members by scanning electron microscopy. To be noticeable, 50% of hairs must be affected by the structural abnormality. Improvement often occurs in later childhood. An autosomal dominant mode of inheritance has been suggested though an autosomal recessive pattern with varying degrees of penetrance has also been noted. The stiffness of the uncombable hair has been reasoned to be due to the triangular form of the hair shaft in cross section. It has been suggested that the condition may result from premature keratinization of the inner root sheath.

CCCA usually begins at the central (sagittal) midline of the scalp. It is symmetric and exhibits scarring as the name suggests. It involves solely the top of the scalp or may progress to Hamilton–Norwood scale Type VI or VII. Early symptoms may include pruritus, dysesthesias and tenderness. On examination the skin is thin with few follicular ostia and later in the disease the scalp may appear shiny.

Genetic forms of localized autosomal recessive hypotrichosis include:

Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the "SPINK5" gene. It is named after Earl W. Netherton (1910–1985), an American dermatologist who discovered it in 1958.

Histopathologic features include a perifollicular lymphocytic infiltrate, concentric lamellar fibrosis (layers of fibroblasts in the papillary dermis), sebaceous gland loss and premature disintegration of the internal root sheath. Additionally, granulomatous inflammation secondary to follicular rupture has been noted. Perifollicular erythema and follicular keratosis is usually absent.

Sebaceous glands are normal structures of the skin but may also be found ectopically in the mouth, where they are referred to as "oral Fordyce granules" or ectopic sebaceous glands.

On the foreskin they are called Tyson's glands, not to be confused with hirsuties coronae glandis.

When they appear on the penis, they are also called "penile sebaceous glands".

When seen as a streak of individual glands along the interface between the skin of the lip and the vermilion border, the terms Fox–Fordyce disease and Fordyce's condition have been used.

On the shaft of the penis, Fordyce spots are more visible when the skin is stretched, and may only be noticeable during an erection.

The spots can also appear on the skin of the scrotum.

Oral Fordyce granules appear as rice-like granules, white or yellow-white in color. They are painless papules (small bumps), about 1–3 mm in greatest dimension. The most common site is along the line between the vermilion border and the oral mucosa of the upper lip, or on the buccal mucosa (inside the cheeks) in the commissural region, often bilaterally. They may also occur on the mandibular retromolar pad and tonsillar areas, but any oral surface may be involved. There is no surrounding mucosal change. Some patients will have hundreds of granules while most have only one or two.

Occasionally, several adjacent glands will coalesce into a larger cauliflower-like cluster similar to sebaceous hyperplasia of the skin. In such an instance, it may be difficult to determine whether or not to diagnose the lesion as sebaceous hyperplasia or sebaceous adenoma. The distinction may be moot because both entities have the same treatment, although the adenoma has a greater growth potential. Sebaceous carcinoma of the oral cavity has been reported, presumably arising from Fordyce granules or hyperplastic foci of sebaceous glands.

In some persons with Fordyce spots, the glands express a thick, chalky discharge when squeezed.

In humans, hair is commonly present on all the basal segments of the digits and invariably absent from all the terminal ones. On the middle segments, there is wide fluctuation with apparent familial and racial tendencies. Hair is present on the middle segment of the fingers more frequently than on the middle segment of the toes. Hair is most often found on the middle segment of the fourth finger.

The management of hair loss, also known as alopecia or baldness, may include medications and surgery.

Pseudofolliculitis barbae (PFB), also known as barber's itch, folliculitis barbae traumatica, razor bumps, scarring pseudofolliculitis of the beard, and shave bumps, is a medical term for persistent irritation caused by shaving. Pseudofolliculitis barbae was first described in 1956.

Pityriasis amiantacea (also known as "Tinea amiantacea") is an eczematous condition of the scalp in which thick tenaciously adherent scale infiltrates and surrounds the base of a group of scalp hairs. It does not result in scarring or alopecia.

Pityriasis amiantacea was first described by Alibert in 1832. Pityriasis amiantacea affects the scalp as shiny asbestos-like (amiantaceus) thick scales attached in layers to the hair shaft. The scales surround and bind down tufts of hair. The condition can be localised or covering over the entire scalp. Temporary alopecia and scarring alopecia may occur due to repeated removal of hairs attached to the scale. It is a rare disease with a female predilection.

Pityriasis amiantacea can easily be misdiagnosed due its close resemblance to other scalp diseases such as psoriasis, seborrhoeic dermatitis or lichen planus. However in pityriasis amiantacea the scales are attached to both the hair shaft and the scalp. Pityriasis amiantacea may be present with other inflammatory conditions such as atopic dermatitis or seborrhoeic dermatitis and sebaceous scales and alopecia can occur. According to the dermatology text Bolognia this condition is most often seen in psoriasis, but may also be seen in secondarily infected atopic dermatitis, seborrheic dermatitis, and tinea capitis.

Since the original identification of Schimmelpenning syndrome, the number of findings has expanded to the point that the syndrome is associated with a considerable constellation of abnormalities. The abnormalities may occur in a variety of combinations, and need not include all three aspects of the classic triad of sebaceous nevus, seizures and mental retardation. In 1998, a literature review by van de Warrenburg et al. found:

- seizures in 67% of cases

- mental retardation in 61% of cases

- ophthalmological abnormalities in 59% of cases

- involvement of other organ systems in 61% of cases

- structural abnormality of cerebrum or cranium in 72% of cases

The major neurological abnormalities include mental retardation to varying extent, seizures, and hemiparesis. Seizures, when present, typically begin during the first year of life. The most common structural central nervous system abnormalities in Schimmelpenning syndrome are hemimegalencephaly and ipselateral gyral malformations.

The major ocular abnormalities are colobomas and choristomas.

Skeletal abnormalities may include dental irregularities, scoliosis, vitamin D-resistant rickets and hypophosphatemia. Cardiovascular abnormalities include ventricular septal defect and co-arctation of the aorta; urinary system issues include horseshoe kidney and duplicated urinary collection system.

Keratosis pilaris results in small bumps on the skin that feel like rough sandpaper. They are skin-colored bumps the size of a grain of sand, many of which are surrounded by a slight pink color in light skinned people and dark spots in dark skinned people. Most people with keratosis pilaris do not have symptoms but the bumps in the skin can occasionally be itchy.

Though people with keratosis pilaris experience the condition year-round, the problem can become exacerbated and the bumps are likely to look and feel more pronounced in color and texture during the colder months when moisture levels in the air are lower. The symptoms may also worsen during pregnancy or after childbirth.

Atrichia with papular lesions (a.k.a. "Papular atrichia") is a diffuse hair loss caused by an abnormality of the human homologue of the mouse hairless gene.

It is associated with HR.