Woolly hair

Woolly hair
Woolly hair
	Woolly hair and other symptoms of Naxos syndrome
Symptoms	Hair: difficult to brush, tight locks, short, lighter colour
Usual onset	Birth, infancy
Types	Familial, hereditary, woolly hair nevus
Risk factors	May run in families
Diagnostic method	Microscopy, trichoscopy, dermoscopy, electron microscopy
Prognosis	May improve with age
Frequency	Rare

Last updated October 02, 2024

Woolly hair is a difficult to brush hair, usually present since birth and typically most severe in childhood.^[1] It has extreme curls and kinks, occurs in black people and is distinct from afro-textured hair.^[3] The hairs come together to form tight locks, unlike in afro-textured hair, where the hairs remain individual.^[1] Woolly hair can be generalised over the whole scalp, when it tends to run in families, or it may involve just part of the scalp as in woolly hair nevus.^[2]

Discovery

Alfred Milne Gossage coined the term woolly hair to describe the sign in 18 members in three or four generations of a European family in Lowestoft, England, in 1908.^[6]^[7] He thought it resembled afro-textured hair, possibly from a Mexican ancestor in that family.^[7] He described a dominant inheritance in several members with thick skin of palms and soles, curly hair, and two different coloured eyes, and sent them to William Bateson.^[9] Edgar Anderson distinguished woolly hair from Afro-hair in 1936.^[8] In 1974 Hutchinson's team classified woolly hair as hereditary woolly hair (autosomal dominant), familial woolly hair (autosomal recessive), and woolly hair nevus .^[2] Woolly hair was found in Naxos syndrome, first described in 1986 in Naxos, Greece, and was noted in Carvajal syndrome, first described in 1998, in Ecuador.^[4]

Cause

Woolly hair may run in families and either occur on its own, or as part of a syndrome.^[4]

Hereditary woolly hair

Hereditary woolly hair is autosomal dominant.^[2]

Familial woolly hair

Familial woolly hair is autosomal recessive.^[2] It may be part of a syndrome such as Naxos syndrome, due to passing on of mutations in the JUP gene .^[4] When part of Carvajal syndrome, it is due the passing of mutations of the Desmoplakin gene .^[4] The two syndromes caused by two different genes, are considered as one entity; Naxos–Carvajal syndrome.^[4]

Woolly hair nevus

The woolly hair of a woolly hair nevus is in a circumscribed area of the scalp, appears in infancy and does not run in families.^[2] It likely represents a mosaic RASopathy.^[2]

Signs and symptoms

Woolly hair is typically very curly, kinky and characteristically impossible to brush.^[1]^[3] It can be generalised over the whole scalp, or involve just part of the scalp, and occurs in non-black people.^[1]^[3] The hairs come together to form tight locks, whereas in afro-textured hair the hairs remain individual.^[1] The hairs typically remain shorter than 12 centimetres (4.7 in) and may be slightly lighter in colour.^[1]^[2]

Woolly hair nevus is a localised area of woolly hair, which may occur on its own, or appear as dark twisted and kinking hair in an adult.^[2] Half of people with woolly hair nevus have a warty skin lesion on the same side of the body.^[2] It may be associated with eye problems such as two different coloured eyes or strands of tissue across the pupil of the eye.^[2] Other associations include ear problems, kidney disease, tooth decay, impairment of bone growth, and skin lesions.^[2]

Generalised woolly hair is typically seen in Naxos–Carvajal syndrome (with heart involvement),^[4] Noonan syndrome, and cardiofaciocutaneous syndrome.^[2]^[4]

Diagnosis

Diagnosis is suspected by its general appearance and confirmed by scanning electron microscopy.^[5] Microscopy, trichoscopy and dermoscopy also play a role.^[2] The hair strand typically has a smaller diameter, is ovoid on cross-section and exhibits abnormal twisting.^[1]^[2] The hair shaft also has weak points and alternating dark and light bands.^[1] The hair shaft is characteristically of a "snake crawl appearance".^[2] Dermoscopy may be required to recognise skin signs.^[2]

Outcome

The condition may improve in adulthood.^[1]

Epidemiology

The condition is rare.^[1]

Related Research Articles

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<span class="mw-page-title-main">Palmoplantar keratoderma</span> Abnormal thickening of skin in the palms or soles

Palmoplantar keratodermas are a heterogeneous group of skin disorders characterized by abnormal thickening (scleroderma) of the stratum corneum of the palms and soles.

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<span class="mw-page-title-main">Acrodermatitis enteropathica</span> Medical condition

Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc through the inner lining of the bowel, the mucous membrane. It is characterized by inflammation of the skin (dermatitis) around bodily openings (periorificial) and the tips of fingers and toes (acral), hair loss (alopecia), and diarrhea. It can also be related to deficiency of zinc due to other, i.e. congenital causes.

<span class="mw-page-title-main">Cutis laxa</span> Skin which is abnormally inelastic and hangs loosely

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White sponge nevus (WSN) is an autosomal dominant condition of the oral mucosa. It is caused by one or more mutations in genes coding for keratin, which causes a defect in the normal process of keratinization of the mucosa. This results in lesions which are thick, white and velvety on the inside of the cheeks within the mouth. Usually, these lesions are present from birth or develop during childhood. The condition is benign and usually requires no treatment. WSN can, however, predispose affected individuals to over-growth/imbalance of the oral microbiota, which may require antibiotic and/or antifungal treatment.

Naegeli–Franceschetti–Jadassohn syndrome (NFJS), also known as chromatophore nevus of Naegeli and Naegeli syndrome, is a rare autosomal dominant form of ectodermal dysplasia, characterized by reticular skin pigmentation, diminished function of the sweat glands, the absence of teeth and hyperkeratosis of the palms and soles. One of the most striking features is the absence of fingerprint lines on the fingers.

Monilethrix is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded. It comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). Hair becomes brittle, and breaks off at the thinner parts between the beads. It appears as a thinning or baldness of hair and was first described in 1897 by Walter Smith

Uncombable hair syndrome (UHS) is a rare structural anomaly of the hair with a variable degree of effect. It is characterized by hair that is silvery, dry, frizzy, wiry, and impossible to comb. It was first reported in the early 20th century. It typically becomes apparent between the ages of 3 months and 12 years. UHS has several names, including pili trianguli et canaliculi (Latin), cheveux incoiffables (French), and "spun-glass hair". This disorder is believed to be autosomal recessive in most instances, but there are a few documented cases where multiple family members display the trait in an autosomal dominant fashion. Based on the current scientific studies related to the disorder, the three genes that have been causally linked to UHS are PADI3, TGM3, and TCHH. These genes encode proteins important for hair shaft formation. Clinical symptoms of the disorder arise between 3 months and 12 years of age. The quantity of hair on the head does not change, but hair starts to grow more slowly and becomes increasingly "uncombable". To be clinically apparent, 50% of all scalp hair shafts must be affected by UHS. This syndrome only affects the hair shaft of the scalp and does not influence hair growth in terms of quantity, textural feel, or appearance on the rest of the body.

Pili torti is characterized by short and brittle hairs that appear flattened and twisted when viewed through a microscope.

Ichthyosis hystrix is a group of rare skin disorders in the ichthyosis family of skin disorders characterized by massive hyperkeratosis with an appearance like spiny scales. This term is also used to refer to a type of epidermal nevi with extensive bilateral distribution.

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 literally "bad nourishment". TTD is associated with a range of symptoms connected with organs of the ectoderm and neuroectoderm. TTD may be subclassified into four syndromes: Approximately half of all patients with trichothiodystrophy have photosensitivity, which divides the classification into syndromes with or without photosensitivity; BIDS and PBIDS, and IBIDS and PIBIDS. Modern covering usage is TTD-P (photosensitive), and TTD.

Peeling skin syndrome is an autosomal recessive disorder characterized by lifelong peeling of the stratum corneum, and may be associated with pruritus, short stature, and easily removed anagen hair.

Woolly hair autosomal recessive is a rare hereditary hair disorder characterized by sparse, short, curly hair.

Woolly hair nevus, alternatively spelled wooly hair nevus, is a congenital condition in which hair in a circumscribed area of the scalp is kinked or woolly.

Hypotrichosis–lymphedema–telangiectasia syndrome is a congenital syndrome characterized by lymphedema, the presence of telegiectasias, and hypotrichosis or alopecia. Lymphedema usually develops in the lower extremities during puberty. Hair is normal at birth, but usually lost during infancy. Telangiectasias may present on the palms and soles more commonly than on the scalp, legs, and genitalia. The syndrome has been reported in association with both autosomal dominant and autosomal recessive inheritance patterns.

Mendelian traits behave according to the model of monogenic or simple gene inheritance in which one gene corresponds to one trait. Discrete traits with simple Mendelian inheritance patterns are relatively rare in nature, and many of the clearest examples in humans cause disorders. Discrete traits found in humans are common examples for teaching genetics.

References

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 James, William D.; Elston, Dirk; Treat, James R.; Rosenbach, Misha A.; Neuhaus, Isaac (2020). "33. Diseases of the skin appendages". Andrews' Diseases of the Skin: Clinical Dermatology (13th ed.). Edinburgh: Elsevier. p. 767. ISBN 978-0-323-54753-6.
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 Gomes, Tiago Fernandes; Guiote, Victoria; Henrique, Martinha (15 January 2020). "Woolly hair nevus: case report and review of literature". Dermatology Online Journal. 26 (1): Article 7. doi: 10.5070/D3261047188 . ISSN 1087-2108. PMID 32155026.
1 2 3 Pavone, Piero; Falsaperla, Raffaele; Barbagallo, Massimo; Polizzi, Agata; Praticò, Andrea D.; Ruggieri, Martino (2 November 2017). "Clinical spectrum of woolly hair: indications for cerebral involvement". Italian Journal of Pediatrics. 43 (1): 99. doi: 10.1186/s13052-017-0417-1 . ISSN 1824-7288. PMC 5667512 . PMID 29096685.
1 2 3 4 5 6 7 8 Hernandez-Martin, Angela; Tamariz-Martel, Amalia (2021). "8. Cardiocutaneous desmosomal disorders". In Salavastru, Carmen; Murrell, Dedee F.; Otton, James (eds.). Skin and the Heart. Switzerland: Springer. pp. 114–116. ISBN 978-3-030-54778-3.
1 2 Swamy, SuchethaSubba; Ravikumar, Bc; Vinay, Kn; Yashovardhana, Dp; Aggarwal, Archit (2017). "Uncombable hair syndrome with a woolly hair nevus". Indian Journal of Dermatology, Venereology and Leprology. 83 (1): 87–88. doi: 10.4103/0378-6323.191133 . PMID 27679409. S2CID 3204525.
1 2 Orfanos, Constantin E.; Happle, Rudolf (2012). Hair and Hair Diseases. Berlin: Springer-Verlag. ISBN 978-3-642-74614-7.
1 2 3 Gates, Reginald Ruggles (1948). Human Genetics. Macmillan. p. 1355.
1 2 McKusick, Victor Almon (1971). Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes. Johns Hopkins Press. p. 294. ISBN 978-0-8018-1296-5.
↑ Rushton, Alan R. (2017). "Bateson and the doctors: the introduction of Mendelian genetics to the British medical community 1900–1910". In Petermann, Heike I.; Harper, Peter S.; Doetz, Susanne (eds.). History of Human Genetics: Aspects of Its Development and Global Perspectives. Springer. p. 65. ISBN 978-3-319-51782-7.