Pili torti (singular pilus tortus; also known as "twisted hairs") is characterized by short and brittle hairs that appear flattened and twisted when viewed through a

microscope A microscope () is a laboratory equipment, laboratory instrument used to examine objects that are too small to be seen by the naked eye. Microscopy is the science of investigating small objects and structures using a microscope. Microscopic ...

.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. .James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . Pili torti can be acquired or inherited. Many different genetic syndromes such as Björnstad syndrome and Menkes disease can cause pili torti. Different ectodermal dysplasias like Rapp-Hodgkin syndrome and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome can also cause pili torti. Acquired pili torti can be associated with different dermatological conditions or medications. Pili torti is often associated with

cicatricial alopecia Scarring hair loss, also known as cicatricial alopecia, is the loss of hair which is accompanied with scarring. This is in contrast to non scarring hair loss. It can be caused by a diverse group of rare disorders that destroy the hair follicle, r ...

including

lichen planopilaris Lichen planus (LP) is a chronic inflammatory and autoimmune disease that affects the skin, nails, hair, and mucous membranes. It is not an actual lichen, but is named for its appearance. It is characterized by polygonal, flat-topped, violaceous p ...

, frontal fibrosing alopecia, and

discoid lupus erythematosus Discoid lupus erythematosus is the most common type of chronic cutaneous lupus (CCLE), an autoimmune skin condition on the lupus erythematosus spectrum of illnesses. It presents with red, painful, inflamed and coin-shaped patches of skin with a sc ...

Epidermal growth factor receptor The epidermal growth factor receptor (EGFR; ErbB-1; HER1 in humans) is a transmembrane protein that is a receptor (biochemistry), receptor for members of the epidermal growth factor family (EGF family) of extracellular protein ligand (biochemistry ...

inhibitors, oral

retinoids The retinoids are a class of chemical compounds that are natural derivatives of vitamin A or are chemically related to it. Synthetic retinoids are utilized in cosmetic formulations, clinical dermatology, and the treatment of some forms of cancer ...

, sodium valproate, and carbamide perhydrate have been known to induce pili torti. The diagnosis of pili torti is made via trichoscopic and microscopic inspection. Pili torti does not have any specific treatment.

Signs and symptoms

Clinically, the hair of individuals with pili torti is dry, coarse, brittle, and fragile. It could lead to patchy

alopecia Hair loss, also known as alopecia or baldness, refers to a loss of hair from part of the head or body. Typically at least the head is involved. The severity of hair loss can vary from a small area to the entire body. Inflammation or scarring ...

. The most common area affected is the scalp, particularly the occipital and temporal regions. But the eyelashes, pubic hair, axilla, and eyebrows could also be affected. Typically, pili torti just impact a portion of the hair and do not alter the entire length of the hair. Occasionally, isolated pili torti might be discovered in a typical scalp. But it could be connected to a lot of regional and systemic issues.

Causes

Pili torti can be aqquired or inherited. There are three types of inherited pili torti: classic early onset (Ronchese type), late onset (Beare type), and pili torti linked to hereditary illnesses or disorders. Starting in early life, the classic (Ronchese) type is an autosomal dominant or recessive disease. The third month to the third year of life is when the sickness first manifests. Blond girls are more frequently impacted. Hair twist clusters are typically seen in early-onset pili torti. With age, the disease frequently gets better, especially after puberty. Usually manifesting after puberty, late onset type is an autosomal dominant condition. People with dark hair seem to experience it more frequently. The hair twists in the late onset form are typically solitary, in contrast to the early onset kind. Pili torti can also be associated with other genetic conditions such as abnormal hair, joint laxity, and developmental delay, acrofacial dysostosis, Palagonia type, argininosuccinic aciduria, autosomal recessive ichthyosis with hypotrichosis, Bazex-Dupre-Christol syndrome, Björnstad syndrome,

citrullinemia Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . Two for ...

congenital disorder of glycosylation A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defect ...

, type Ia, congenital erythropoietic porphyria, congenital hypotrichosis with juvenile macular dystrophy, Conradi-Hünermann syndrome, Crandall syndrome, giant axonal neuropathy, hypotrichosis 6, Laron syndrome, Marie Unna hypotrichosis,

McCune–Albright syndrome McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems. It is a mosaic disease arising from somatic activating mutations in '' GNAS'', which encodes the alpha-subunit of the Gs heterotrimeric G ...

, Menkes disease,

mitochondrial diseases Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of ...

, Netherton syndrome, occipital horn syndrome, Olmsted syndrome, peeling skin syndrome, Salti-Salem syndrome,

steatocystoma multiplex Steatocystoma multiplex is a benign, autosomal dominant congenital condition resulting in multiple cysts on a person's body. Steatocystoma simplex is the solitary counterpart to steatocystoma multiplex. In steatocystoma multiplex, the tendency to ...

, tricho-hepato-enteric syndrome, and

trichothiodystrophy Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. The word breaks down into ''tricho'' – "hair", '' thio'' – "sulphur", and ''dystrophy'' – "wasting away" or lit ...

, photosensitive. A diverse range of hereditary diseases known as ectodermal dysplasias are defined by birth abnormalities in one or more ectodermal structures and associated appendages, such as the hair, teeth, nails, and sweat glands. There have been reports of pili torti in several ectodermal dysplasias, including ectodermal dysplasia with syndactyly, ankyloblepharon-ectodermal defects-cleft lip and palate syndrome, Basan syndrome, cleft lip/palate-ectodermal dysplasia syndrome, ectodermal dysplasia 4, hair/nail type, ectodermal dysplasia with corkscrew hairs, ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, Goltz syndrome, hidrotic ectodermal dysplasia, hypohidrotic ectodermal dysplasia, hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome, oculo-dento-digital syndrome, pachyonychia congenita-2, Rapp-Hodgkin syndrome, Reeds syndrome, Salamon syndrome, Schöpf-Schulz-Passarge syndrome, and trichodysplasia-xeroderma. Conditions associated with acquired pili torti include

, frontal fibrosing alopecia,

alopecia areata Alopecia areata (AA), also known as spot baldness, is a condition in which hair loss, hair is lost from some or all areas of the body. It often results in a few Baldness, bald spots on the scalp, each about the size of a coin. Psychological st ...

, central centrifugal cicatricial alopecia,

, dissecting cellulitis, folliculitis decalvans, pseudopelade of Brocq,

traction alopecia Traction alopecia is a type of alopecia or hair loss caused by a chronic pulling force being applied to the hair. It commonly results from a person frequently wearing their hair in a particularly tight ponytail, pigtails, or braids with increased ...

, linear scleroderma en coup de sabre, repetitive trauma, scalp

metastasis Metastasis is a pathogenic agent's spreading from an initial or primary site to a different or secondary site within the host's body; the term is typically used when referring to metastasis by a cancerous tumor. The newly pathological sites, ...

breast cancer Breast cancer is a cancer that develops from breast tissue. Signs of breast cancer may include a Breast lump, lump in the breast, a change in breast shape, dimpling of the skin, Milk-rejection sign, milk rejection, fluid coming from the nipp ...

, cutaneous T-cell lymphoma, acne conglobate,

anorexia nervosa Anorexia nervosa (AN), often referred to simply as anorexia, is an eating disorder characterized by Calorie restriction, food restriction, body image disturbance, fear of gaining weight, and an overpowering desire to be thin. Individuals wit ...

, graft-vs.-host disease,

hair transplantation Hair transplantation is a surgery, surgical technique that removes hair follicles from one part of the body, called the 'donor site', to a bald or balding part of the body known as the 'recipient site'. The technique is primarily used to treat ...

malnutrition Malnutrition occurs when an organism gets too few or too many nutrients, resulting in health problems. Specifically, it is a deficiency, excess, or imbalance of energy, protein and other nutrients which adversely affects the body's tissues a ...

systemic sclerosis Systemic scleroderma, or systemic sclerosis, is an autoimmune rheumatic disease characterised by excessive production and accumulation of collagen, called fibrosis, in the skin and internal organs and by injuries to small arteries. There are tw ...

, and

cataracts A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision of the eye. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colours, blurry or double vision, halos around ligh ...

. Drugs related to pili torti include

epidermal growth factor receptor The epidermal growth factor receptor (EGFR; ErbB-1; HER1 in humans) is a transmembrane protein that is a receptor (biochemistry), receptor for members of the epidermal growth factor family (EGF family) of extracellular protein ligand (biochemistry ...

inhibitors, oral

, sodium valproate, and carbamide perhydrate.

Mechanism

Uneven growth of the outer root sheath cells is the source of hair twisting in hereditary forms. The hair shaft and inner root sheath are unevenly molded as a result of cell vacuolation and unequal outer root sheath thickness at the suprabulbar region. In acquired forms, the hair follicle is deformed and rotational forces are generated by a perifollicular inflammation followed by

fibrosis Fibrosis, also known as fibrotic scarring, is the development of fibrous connective tissue in response to an injury. Fibrosis can be a normal connective tissue deposition or excessive tissue deposition caused by a disease. Repeated injuries, ch ...

Diagnosis

Examination under a

and trichoscope is used to diagnose pili torti. Low magnification trichoscopy in pili torti reveals the hair shafts bent at random intervals and at varied angles. At high magnification, the hair shaft's regular twists along its long axis are visible. Upon microscopic inspection, the shaft exhibits irregularly spaced clusters of three or four twists at random intervals.

Classification

Pili torti can be aqquired or inherited. There are three types of inherited pili torti: classic early onset (Ronchese type), late onset (Beare type), and pili torti linked to hereditary illnesses or disorders. Acquired pili torti may result from medication side effects or be linked to a variety of systemic and dermatological disorders.

Treatment

Pili torti does not have a specific treatment. It is advised to keep the hair from suffering damage. Additional techniques of care include dyeing, braiding, heat treatments, avoiding over-grooming, and sleeping on a satin pillowcase. Shampoos that are gentle might be helpful. After puberty, congenital pili torti may heal on their own. Drug-induced instances usually go away as the offending substance is stopped. The most crucial aspect of treating acquired pili torti is treating the underlying ailment. The use of pharmaceuticals to treat pili torti has minimal efficacy. Topical

minoxidil Minoxidil is a medication used for the treatment of high blood pressure and pattern hair loss. It is an antihypertensive and a vasodilator. It is available as a generic medication by prescription in oral administration, oral tablet (pharmacy), ...

has been proposed as a good therapeutic alternative for individuals with higher fragility in their hair shaft abnormalities. Nevertheless, it does not cause a causative treatment; rather, it solely affects hair density.

History

In 1932, Ronchese and Galewsky separately published the first descriptions of pili torti, also referred to as "twisted hair."

References

External links

VisualDx

Hair shaft disorders
-

UpToDate UpToDate, Inc. is a company in the Wolters Kluwer Health division of Wolters Kluwer, the main product of which is the eponymous UpToDate, a software system that is a Point of care medical information summary, point-of-care medical resource. The Up ...

{{Congenital malformations and deformations of skin appendages Conditions of the skin appendages Human hair Hair diseases