Acrokeratosis verruciformis: Difference between revisions
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'''Acrokeratosis verruciformis''' is a rare [[autosomal dominant]] disorder appearing at birth or in early childhood, characterized by [[skin lesion]]s that are small, verrucous, flat [[papule]]s resembling warts along with palmoplantar punctate keratoses and pits.<ref name="Fitz2">Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}.</ref><ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}.</ref> 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. |
'''Acrokeratosis verruciformis''' is a rare [[autosomal dominant]] disorder appearing at birth or in early childhood, characterized by [[skin lesion]]s that are small, verrucous, flat [[papule]]s resembling warts along with palmoplantar punctate keratoses and pits.<ref name="Fitz2">Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}.</ref><ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}.</ref> 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. |
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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.<ref name="pmid12542527">{{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}}</ref> however the specific mutations found in the ATP2A2 gene in acrokeratosis verruciformis have never been found in Darier's disease.<ref name="jeadv">{{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|volume=30|issue=4|date=January 2015|pages=695–697|doi=10.1111/jdv.12983|pmid=25622760|s2cid=35181817}}</ref> |
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.<ref name="pmid12542527">{{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|doi-access=free }}</ref> however the specific mutations found in the ATP2A2 gene in acrokeratosis verruciformis have never been found in Darier's disease.<ref name="jeadv">{{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|volume=30|issue=4|date=January 2015|pages=695–697|doi=10.1111/jdv.12983|pmid=25622760|s2cid=35181817}}</ref> |
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== See also == |
== See also == |
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Revision as of 11:01, 5 July 2021
| Acrokeratosis verruciformis | |
|---|---|
| Other names | Acrokeratosis verruciformis of Hopf[1] |
| Specialty | Medical genetics  |
Acrokeratosis verruciformis 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
References
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Dhitavat J, Macfarlane S, Dode L, et al. (February 2003). "Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease". J. Invest. Dermatol. 120 (2): 229–32. doi:10.1046/j.1523-1747.2003.t01-1-12045.x. PMID 12542527.
- ^ Gupta, A.; Sharma, Y.K.; Vellarikkal, S.K.; Jayarajan, R.; Dixit, V.; Verma, A.; Sivasubbu, S.; Scaria, V. (January 2015). "Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis". Journal of the European Academy of Dermatology and Venereology. 30 (4): 695–697. doi:10.1111/jdv.12983. PMID 25622760. S2CID 35181817.
External links