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Generalized hyperkeratosis

MedGen UID:
370776
Concept ID:
C1969913
Finding
Synonym: Hyperkeratosis, generalized
 
HPO: HP:0005595

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized hyperkeratosis

Conditions with this feature

Erythrokeratodermia variabilis et progressiva 1
MedGen UID:
1633225
Concept ID:
C4551486
Disease or Syndrome
Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features. The first is hyperkeratosis, which is rough, thickened skin. These patches are usually reddish-brown and can either affect many parts of the body or occur in only a small area. They tend to be fixed, meaning they rarely spread or go away. However, the patches can vary in size and shape, and in some affected people they get larger over time. The areas of hyperkeratosis are generally symmetric, which means they occur in the same places on the right and left sides of the body.\n\nThe second major feature of EKVP is patches of reddened skin called erythematous areas. Unlike the hyperkeratosis that occurs in this disorder, the erythematous areas are usually transient, which means they come and go. They vary in size, shape, and location, and can occur anywhere on the body. The redness is more common in childhood and can be triggered by sudden changes in temperature, emotional stress, or trauma or irritation to the area. It usually fades within hours to days.
Epidermolytic hyperkeratosis 2
MedGen UID:
1831005
Concept ID:
C5781877
Disease or Syndrome

Professional guidelines

PubMed

Butala S, Mazereeuw-Hautier J, Paller AS
Curr Opin Pediatr 2023 Aug 1;35(4):467-474. Epub 2023 Jun 22 doi: 10.1097/MOP.0000000000001264. PMID: 37345742
Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J
J Invest Dermatol 2003 Apr;120(4):601-9. doi: 10.1046/j.1523-1747.2003.12080.x. PMID: 12648223

Recent clinical studies

Etiology

Butala S, Mazereeuw-Hautier J, Paller AS
Curr Opin Pediatr 2023 Aug 1;35(4):467-474. Epub 2023 Jun 22 doi: 10.1097/MOP.0000000000001264. PMID: 37345742
Concolino D, Roversi G, Muzzi GL, Sestito S, Colombo EA, Volpi L, Larizza L, Strisciuglio P
Am J Med Genet A 2010 Oct;152A(10):2588-94. doi: 10.1002/ajmg.a.33600. PMID: 20734427
Kucharekova M, Mosterd K, Winnepenninckx V, van Geel M, Sommer A, van Steensel MA
Int J Dermatol 2007 Nov;46 Suppl 3:36-8. doi: 10.1111/j.1365-4632.2007.03510.x. PMID: 17973888
Hennies HC, Raghunath M, Wiebe V, Vogel M, Velten F, Traupe H, Reis A
Hum Genet 1998 Mar;102(3):314-8. doi: 10.1007/s004390050697. PMID: 9544844

Diagnosis

Butala S, Mazereeuw-Hautier J, Paller AS
Curr Opin Pediatr 2023 Aug 1;35(4):467-474. Epub 2023 Jun 22 doi: 10.1097/MOP.0000000000001264. PMID: 37345742
Nassif PW, Nakandakari S, Fogagnolo L, Contin LA, Alves CJ
An Bras Dermatol 2011 Jul-Aug;86(4 Suppl 1):S72-5. doi: 10.1590/s0365-05962011000700018. PMID: 22068776
Belligni EF, Dokal I, Hennekam RC
Eur J Med Genet 2011 May-Jun;54(3):231-5. Epub 2011 Jan 18 doi: 10.1016/j.ejmg.2011.01.001. PMID: 21252004
Watanabe D, Zako M, Tamada Y, Matsumoto Y
Int J Dermatol 2007 Apr;46(4):400-2. doi: 10.1111/j.1365-4632.2007.03170.x. PMID: 17442083
Nayak S, Behera SK, Acharjya B, Sahu A, Mishra D
Indian J Dermatol Venereol Leprol 2006 Mar-Apr;72(2):139-42. doi: 10.4103/0378-6323.25641. PMID: 16707822

Therapy

Butala S, Mazereeuw-Hautier J, Paller AS
Curr Opin Pediatr 2023 Aug 1;35(4):467-474. Epub 2023 Jun 22 doi: 10.1097/MOP.0000000000001264. PMID: 37345742
Nassif PW, Nakandakari S, Fogagnolo L, Contin LA, Alves CJ
An Bras Dermatol 2011 Jul-Aug;86(4 Suppl 1):S72-5. doi: 10.1590/s0365-05962011000700018. PMID: 22068776
Sarnoff DS, Saini R
J Drugs Dermatol 2008 May;7(5):475-8. PMID: 18505142

Prognosis

Kokotas H, Papagiannaki K, Grigoriadou M, Petersen MB, Katsarou A
Eur J Dermatol 2012 Mar-Apr;22(2):182-6. doi: 10.1684/ejd.2011.1617. PMID: 22266302
Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J
J Invest Dermatol 2003 Apr;120(4):601-9. doi: 10.1046/j.1523-1747.2003.12080.x. PMID: 12648223
Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ
Nat Genet 1998 Dec;20(4):366-9. doi: 10.1038/3840. PMID: 9843209

Clinical prediction guides

Kokotas H, Papagiannaki K, Grigoriadou M, Petersen MB, Katsarou A
Eur J Dermatol 2012 Mar-Apr;22(2):182-6. doi: 10.1684/ejd.2011.1617. PMID: 22266302
Watanabe D, Zako M, Tamada Y, Matsumoto Y
Int J Dermatol 2007 Apr;46(4):400-2. doi: 10.1111/j.1365-4632.2007.03170.x. PMID: 17442083
Math A, Frank J, Handisurya A, Poblete-Gutiérrez P, Slupetzky K, Födinger D, Winter D, Stingl G, Kirnbauer R
Eur J Dermatol 2006 Sep-Oct;16(5):507-10. PMID: 17101470
Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J
J Invest Dermatol 2003 Apr;120(4):601-9. doi: 10.1046/j.1523-1747.2003.12080.x. PMID: 12648223
Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ
Nat Genet 1998 Dec;20(4):366-9. doi: 10.1038/3840. PMID: 9843209

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