Hypertrichosis cubiti
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| synonym = hairy elbow syndrome
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| specialty = Dermatology
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Hypertrichosis cubiti (also known as "hairy elbow syndrome") is a cutaneous condition characterized by multiple terminal hairs on both elbows in children.{{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |isbn=978-1-4160-2999-1 }}
Signs and symptoms
Hypertrichosis cubiti is characterized by an unusually high concentration of long hairs that are concentrated mostly in the elbow area on the extensor surfaces of the upper extremities. Hypertrichosis is not always visible at birth; it typically manifests in early infancy, peaks between the ages of 5 and 6, then gradually declines and eventually goes away during puberty.{{cite journal |last1=Nardello |first1=R |last2=Mangano |first2=S |last3=Fontana |first3=A |last4=Tripi |first4=G |last5=Didato |first5=M A |last6=Di Pace |first6=M |last7=Corsello |first7=G |title=The hairy elbows syndrome: clinical and neuroradiological findings |journal=La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics |date=2008 |volume=30 |issue=5 |pages=262–264 |pmid=19320141 |url=https://www.researchgate.net/publication/24233030 |access-date=17 March 2024}}
Causes
Several inheritance patterns with varying penetrance and expressivity have been proposed, such as a familial pattern with either an autosomal dominant or autosomal recessive inheritance.{{cite journal | last1=Tng | first1=Vivian E.T. | last2=de Zwaan | first2=Sally | title=Hypertrichosis cubiti, a case report and literature review | journal=Clinical Case Reports | publisher=Wiley | volume=4 | issue=2 | date=2015-12-09 | issn=2050-0904 | doi=10.1002/ccr3.465 | pages=138–142| pmid=26862409 | pmc=4736513 }} Primary nevoid hypertrichosis{{cite journal | last=Andreev | first=Vladimir C. | title=Hairy Elbows | journal=Archives of Dermatology | volume=115 | issue=6 | date=1979-06-01 | issn=0003-987X | doi=10.1001/archderm.1979.04010060059036 | page=761| pmid=453885 }}{{cite journal |last1=Fernandez-Crehuet |first1=Pablo |last2=Ruiz-Villaverde |first2=Ricardo |last3=Fernandez-Crehuet Serrano |first3=Jose Luis |title=Hairy elbows — A case study |journal=Australian Family Physician |date=November 2013 |volume=42 |issue=11 |pages=801–802 |pmid=24217102 |url=https://www.racgp.org.au/afp/2013/november/hairy-elbows/ |access-date=17 March 2024}} and somatic hypertrichosis mosaicism are two other possibilities.{{cite journal | last1=Edwards | first1=Matthew J. | last2=Crawford | first2=Anthony E. | last3=Jammu | first3=Vapinder | last4=Wise | first4=Graham | title=Hypertrichosis "cubiti" with facial asymmetry | journal=American Journal of Medical Genetics | publisher=Wiley | volume=53 | issue=1 | date=1994-10-15 | issn=0148-7299 | doi=10.1002/ajmg.1320530112 | pages=56–58| pmid=7802037 }}{{cite journal | last1=Polizzi | first1=A. | last2=Pavone | first2=P. | last3=Ciancio | first3=E. | last4=Rosa | first4=C. La | last5=Sorge | first5=G. | last6=Ruggieri | first6=M. | title=Hypertrichosis Cubiti (Hairy Elbow Syndrome): A Clue to a Malformation Syndrome | journal=Journal of Pediatric Endocrinology and Metabolism | publisher=Walter de Gruyter GmbH | volume=18 | issue=10 | year=2005 | pages=1019–1025 | issn=2191-0251 | doi=10.1515/jpem.2005.18.10.1019 | pmid=16355816 }} There have been some speculative connections made to disorders including the Floating-Harbor syndrome,{{cite journal |last1=Koç |first1=A |last2=Karaer |first2=K |last3=Ergün |first3=M A |last4=Cinaz |first4=P |last5=Perçin |first5=E F |title=A new case of hairy elbows syndrome (hypertrichosis cubiti) |journal=Genetic Counseling (Geneva, Switzerland) |date=2007 |volume=18 |issue=3 |pages=325–330 |pmid=18019374}} Wiedemann-Steiner syndrome,{{cite journal | last1=Jones | first1=Wendy D. | last2=Dafou | first2=Dimitra | last3=McEntagart | first3=Meriel | last4=Woollard | first4=Wesley J. | last5=Elmslie | first5=France V. | last6=Holder-Espinasse | first6=Muriel | last7=Irving | first7=Melita | last8=Saggar | first8=Anand K. | last9=Smithson | first9=Sarah | last10=Trembath | first10=Richard C. | last11=Deshpande | first11=Charu | last12=Simpson | first12=Michael A. | title=De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome | journal=The American Journal of Human Genetics | publisher=Elsevier BV | volume=91 | issue=2 | year=2012 | issn=0002-9297 | doi=10.1016/j.ajhg.2012.06.008 | pages=358–364| pmid=22795537 | pmc=3415539 }} and Weill-Marchesani syndrome.{{cite journal | last=Beighton | first=P | title=Familial hypertrichosis cubiti: hairy elbows syndrome. | journal=Journal of Medical Genetics | publisher=BMJ | volume=7 | issue=2 | date=1970-06-01 | issn=1468-6244 | doi=10.1136/jmg.7.2.158 | pages=158–160| pmid=5519603 | pmc=1468803 }}
Treatment
See also
References
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Further reading
- {{cite journal | last1=M | first1=Yuste-Chaves | last2=MI | first2=Zafra-Cobo | last3=A | first3=Martínez de Salinas | last4=J | first4=Bravo-Piris | title=[Two cases of hypertrichosis cubiti] | journal=Actas Dermo-sifiliograficas | date=2007 | publisher=Actas Dermosifiliogr | volume=98 | issue=10 | pages=719–721 | doi=10.1016/S0001-7310(07)70170-9 | issn=0001-7310 | pmid=18035036 |url=https://pubmed.ncbi.nlm.nih.gov/18035036/ | access-date=2024-03-17 | ref=none}}
- {{cite journal | last1=Rosina | first1=Paolo | last2=Pugliarello | first2=Silvia | last3=Tarocco | first3=Michele | last4=D’Onghia | first4=Francesco S. | last5=Barba | first5=Annalisa | title=Hairy elbows syndrome | journal=International Journal of Dermatology | publisher=Wiley | volume=45 | issue=2 | date=2005-07-20 | issn=0011-9059 | doi=10.1111/j.1365-4632.2005.02646.x | pages=127–128 | pmid=16445502 | ref=none}}
External links
{{Medical resources
| ICD11 = {{ICD11|LD27.0Y}}
| ICD10 = {{ICD10|Q84.2}}
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| OMIM = 139600
| MeshID = C535618
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| SNOMED CT = 771181009
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| GARDNum = 143
| GARDName = Hypertrichosis cubiti
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| Orphanet = 2220
| Scholia = Q16908675
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