| 词条 | Monilethrix |
| 释义 |
| synonyms = Moniliform hair syndrome | name = Monilethrix | image = Monilethrix hair.jpg | caption = Beaded hair (60x magnification). | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Monilethrix (also referred to as beaded hair)[1] is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded.[2][3] It comes from the Latin word for necklace (monile) and the Greek word for hair (thrix).[4] CharacteristicsThe presentation may be of alopecia (baldness). Individuals vary in severity of symptoms. Nail deformities may also be present as well as hair follicle keratosis and follicular hyperkeratosis. Cause and geneticsMonilethrix is caused by mutations affecting the genes KRTHB1 (KRT81), KRTHB3 (KRT83), or KRTHB6 (KRT86) which code for type II hair cortex keratins.[5] The disorder is inherited in an autosomal dominant manner.[2] This means that the defective gene(s) responsible for the disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. DiagnosisMonilethrix may be diagnosed with trichoscopy.[6][7] Management{{Empty section|date=April 2017}}See also
References1. ^{{cite book |vauthors=James W, Berger T, Elston D |year=2005 |title=Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.) |publisher=Saunders |isbn=0-7216-2921-0}} 2. ^1 {{Cite journal | pmid = 19400537 | year = 2009 | last1 = Celep | first1 = F. | last2 = Uzumcu | first2 = A. | last3 = Sonmez | first3 = F. | last4 = Uyguner | first4 = O. | last5 = Balci | first5 = Y. | last6 = Bahadir | first6 = S. | last7 = Karaguzel | first7 = A. | title = Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance | volume = 20 | issue = 1 | pages = 1–8 | journal = Genetic counseling (Geneva, Switzerland)}} 3. ^{{cite book |author=Freedberg|year=2003 |title=Fitzpatrick's Dermatology in General Medicine (6th ed.) |publisher=McGraw-Hill |isbn=0-07-138076-0 |page=639|display-authors=etal}} 4. ^{{Cite web|author=Genetic and Rare Diseases Information Center|date=2008-09-09|url=http://rarediseases.info.nih.gov/GARD/Condition/93/QnA/21422/Monilethrix.aspx#491|title=Monilethrix|publisher=NIH Office of Rare Diseases Research|accessdate=2011-01-15}} 5. ^{{cite journal |author=Schweizer J |title=More than one gene involved in monilethrix: intracellular but also extracellular players |journal=J. Invest. Dermatol. |volume=126 |issue=6 |pages=1216–9 |year=2006 |pmid=16702971 |doi=10.1038/sj.jid.5700266}} 6. ^{{Cite journal|vauthors=Rudnicka L, Olszewska M, Rakowska A, Kowalska-Oledzka E, Slowinska M |title= Trichoscopy: a new method for diagnosing hair loss |journal= J Drugs Dermatol |volume=7 |issue=7 |pages=651–654 |year=2008 |pmid=18664157 }} 7. ^{{Cite journal|vauthors=Rakowska A, Slowinska M, Kowalska-Oledzka E, Rudnicka L |title= Trichoscopy in genetic hair shaft abnormalities |journal= J Dermatol Case Rep|volume=2|issue=2 |pages=14–20 |year=2008 |doi=10.3315/jdcr.2008.1009|pmid= 21886705|pmc= 3157768 }} External links{{Medical resources| DiseasesDB = 29592 | ICD10 = {{ICD10|Q|84|1|q|80}} (ILDS Q84.140) | ICD9 = {{ICD9|757.4}} | ICDO = | OMIM = 158000 | MedlinePlus = | eMedicineSubj = derm | eMedicineTopic = 763 | MeshID = | Orphanet = 573 }}{{Congenital malformations and deformations of skin appendages}}{{Cytoskeletal defects}}{{genetic-disorder-stub}}{{skin-appendage-stub}} 6 : Conditions of the skin appendages|Autosomal dominant disorders|Rare diseases|Cytoskeletal defects|Human hair|Hair diseases |
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