Woolly hair: Difference between revisions
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==Discovery== |
==Discovery== |
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[[Alfred Milne Gossage]] coined the term 'woolly hair' to describe the sign in a European family in 1907.<ref name=Pavone2017/> In 1974 Hutchinson's team classified woolly hair as hereditary woolly hair (autosomal dominant), familial woolly hair (autosomal recessive), and woolly hair nevus.<ref name=Gomes2020/> Naxos syndrome was first described in 1986 in Naxos, Greece, and Carvajal syndrome was first described in 1998 in Ecuador.<ref name=Salav2021/> The two syndromes caused by two different genes, were later merged as one entity; Naxos-Carvajal syndrome.<ref name=Salav2021/> |
[[Alfred Milne Gossage]] coined the term 'woolly hair' to describe the sign in 18 members in three generations of a [[White people|European family]] in 1907.<ref name=Pavone2017/><ref name=Orfanos2012>{{cite book |last1=Orfanos |first1=Constantin E. |last2=Happle |first2=Rudolf |title=Hair and Hair Diseases |date=2012 |publisher=Springer-Verlag |location=Berlin |isbn=978-3-642-74614-7 |url=https://books.google.com/books?id=k7urBgAAQBAJ&newbks=0&printsec=frontcover&pg=PT601&dq=woolly+hair&hl=en |language=en}}</ref> In 1974 Hutchinson's team classified woolly hair as hereditary woolly hair (autosomal dominant), familial woolly hair (autosomal recessive), and woolly hair nevus.<ref name=Gomes2020/> Naxos syndrome was first described in 1986 in Naxos, Greece, and Carvajal syndrome was first described in 1998 in Ecuador.<ref name=Salav2021/> The two syndromes caused by two different genes, were later merged as one entity; Naxos-Carvajal syndrome.<ref name=Salav2021/> |
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==Cause== |
==Cause== |
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| Woolly hair | |
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| Woolly hair and other symptoms of Naxos syndrome | |
| Symptoms | Hair: difficult to brush, tight locks, short, lighter colour[1] |
| Usual onset | Birth, infancy[1] |
| Types | Familial, 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] |
| Frequency | Rare[1] |
Woolly hair is a difficult to brush hair, usually present since birth and most severe in childhood.[1] It has extreme curls and kinks and occurs in non-black people.[3] The hairs come together to form tight locks, unlike in Afro-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] The presence of woolly hair may indicate other problems such as with the heart in Naxos-Carvajal syndrome.[4]
Discovery
Alfred Milne Gossage coined the term 'woolly hair' to describe the sign in 18 members in three generations of a European family in 1907.[3][5] In 1974 Hutchinson's team classified woolly hair as hereditary woolly hair (autosomal dominant), familial woolly hair (autosomal recessive), and woolly hair nevus.[2] Naxos syndrome was first described in 1986 in Naxos, Greece, and Carvajal syndrome was first described in 1998 in Ecuador.[4] The two syndromes caused by two different genes, were later merged as one entity; Naxos-Carvajal syndrome.[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]
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 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-hair the hairs remain individual.[1] The hairs typically remain short and may be slightly lighter in colour.[1][2]
Woolly hair nevus is a localised area of wooly hair, which may occur on its own, or appear as dark twisted and kinking hair in an adult.[2] 50% 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 other skin lesions.[2]
Generalised woolly hair is typically seen in Naxos-Carvajal syndrome, Noonan syndrome, and cardiofaciocutaneous syndrome.[2][4]
Diagnosis
Diagnosis is suspected by its general appearance and confirmed by scanning electron microscopy.[6] 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 appearance of 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]
References
- ^ a b c d e f g h i j k l m n o 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.
- ^ a b c d e f g h i j k l m n o p q r Gomes, Tiago Fernandes; Guiote, Victoria; Henrique, Martinha (15 January 2020). "Woolly hair nevus: case report and review of literature". Dermatology Online Journal. 26 (1): 13030/qt5nq8f75q. ISSN 1087-2108. PMID 32155026.
- ^ a b c d 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. PMID 29096685.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ a b c d e f g 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.
- ^ Orfanos, Constantin E.; Happle, Rudolf (2012). Hair and Hair Diseases. Berlin: Springer-Verlag. ISBN 978-3-642-74614-7.
- ^ 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. doi:10.4103/0378-6323.191133. PMID 27679409.
{{cite journal}}: CS1 maint: unflagged free DOI (link)
Further reading
- Gossage, A. M. (April 1908). "The inheritance of certain human abnormalities". An International Journal of Medicine. doi:10.1093/oxfordjournals.qjmed.a069191.