Woolly hair

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Woolly hair
Naxos disease.jpg
Woolly hair and other symptoms of Naxos syndrome
Symptoms Hair: difficult to brush, tight locks, short, lighter colour [1]
Usual onsetBirth, infancy [1]
TypesFamilial, hereditary, woolly hair nevus [2]
Risk factors May run in families [1]
Diagnostic method Microscopy, trichoscopy, dermoscopy, electron microscopy [2]
Prognosis May improve with age [1]
FrequencyRare [1]

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]

Contents

The presence of woolly hair may indicate other problems such as with the heart in Naxos–Carvajal syndrome. [4] Diagnosis is suspected by its general appearance and confirmed by scanning electron microscopy. [5]

The condition is rare. [1] Alfred Milne Gossage coined the term woolly hair in 1908. [6] [7] Edgar Anderson distinguished woolly hair from afro-textured hair in 1936. [8]

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

Autosomal dominant and recessive Autosomal dominant and recessive.svg
Autosomal dominant and recessive

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]

See also

References

  1. 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.
  2. 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) 7. doi: 10.5070/D3261047188 . ISSN   1087-2108. PMID   32155026.
  3. 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.
  4. 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.
  5. 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.
  6. 1 2 Orfanos, Constantin E.; Happle, Rudolf (2012). Hair and Hair Diseases. Berlin: Springer-Verlag. ISBN   978-3-642-74614-7.
  7. 1 2 3 Gates, Reginald Ruggles (1948). Human Genetics. Macmillan. p. 1355.
  8. 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.
  9. ↑ 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.

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