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词条 Acrokeratosis verruciformis
释义

  1. See also

  2. References

  3. External links

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Acrokeratosis verruciformis (also known as "Acrokeratosis verruciformis of Hopf"[1] is a rare autosomal dominant disorder appearing at birth or in early childhood, characterized by skin lesions that are small, verrucous, flat papules resembling warts along with palmoplantar punctate keratoses and pits.[2][3] However sporadic forms, whose less than 10 cases have been reported, presents at a later age, usually after the first decade and generally lack palmoplantar keratoses.

Whether acrokeratosis verruciformis and Darier disease are related or distinct entities has been controversial, like Darier's disease, it is associated with defects in the ATP2A2 gene.[4] however the specific mutations found in the ATP2A2 gene in acrokeratosis verruciformis have never been found in Darier's disease.[5]

See also

  • List of cutaneous conditions
  • List of genes mutated in cutaneous conditions

References

1. ^{{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 |pages= |isbn=1-4160-2999-0 |oclc= |doi= |accessdate=}}
2. ^Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}.
3. ^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}.
4. ^{{cite journal |vauthors =Dhitavat J, Macfarlane S, Dode L |title=Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease |journal=J. Invest. Dermatol. |volume=120 |issue=2 |pages=229–32 |date=February 2003 |pmid=12542527 |doi=10.1046/j.1523-1747.2003.t01-1-12045.x |display-authors=etal}}
5. ^{{cite journal|last1=Gupta|first1=A.|last2=Sharma|first2=Y.K.|last3=Vellarikkal|first3=S.K.|last4=Jayarajan|first4=R.|last5=Dixit|first5=V.|last6=Verma|first6=A.|last7=Sivasubbu|first7=S.|last8=Scaria|first8=V.|title=Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis|journal=Journal of the European Academy of Dermatology and Venereology|date=January 2015|pages=n/a>n/a|doi=10.1111/jdv.12983}}

External links

{{Medical resources
| DiseasesDB = 3467
| ICD10 = {{ICD10|Q|82|8|q|82}}
| ICD9 =
| ICDO =
| OMIM = 101900
| MedlinePlus =
| eMedicineSubj = article
| eMedicineTopic = 1055892
| MeshID = D007644
}}{{Ion pump disorders}}{{Genodermatoses-stub}}

1 : Genodermatoses

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