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Cardiomyopathy dilated with woolly hair and keratoderma(DCWHK)

MedGen UID:
340124
Concept ID:
C1854063
Disease or Syndrome
Synonyms: Carvajal syndrome; DCWHK; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Carvajal syndrome (719835006); Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (719835006); Keratoderma with wooly hair type II (719835006)
 
Gene (location): DSP (6p24.3)
OMIM®: 605676
Orphanet: ORPHA65282

Clinical features

Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
Hereditary palmoplantar keratoderma
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Bullous ichthyosiform erythroderma
MedGen UID:
38179
Concept ID:
C0079153
Congenital Abnormality
Epidermolytic hyperkeratosis (EHK), also termed bullous congenital ichthyosiform erythroderma (BCIE), is a keratinization disorder with an incidence of approximately 1 in 200,000 in the USA. The clinical phenotype of EHK is characterized by erythema and widespread formation of epidermal blisters developing at birth. Later in life, bullous erythema is replaced by progressive hyperkeratosis, involving thickening of the cornified layer of the epidermis (summary by Muller et al., 2006). Goldsmith (1976) used the designation of epidermolytic hyperkeratosis for the condition that is called bullous congenital ichthyosiform erythroderma (BCIE) when generalized, and ichthyosis hystrix (see 146600) when localized. They are presumably distinct entities. A form of epidermolytic hyperkeratosis that is limited to the palms and soles, designated palmoplantar keratoderma (EPPK; 144200), is caused by mutation in the keratin gene KRT9 (607606), and a mild form of EPPK can also be caused by mutation in KRT1.
Wooly hair
MedGen UID:
87469
Concept ID:
C0343073
Finding
Reduced number of teeth
MedGen UID:
869773
Concept ID:
C4024202
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCardiomyopathy dilated with woolly hair and keratoderma
Follow this link to review classifications for Cardiomyopathy dilated with woolly hair and keratoderma in Orphanet.

Recent clinical studies

Etiology

Molho-Pessach V, Sheffer S, Siam R, Tams S, Siam I, Awwad R, Babay S, Golender J, Simanovsky N, Ramot Y, Zlotogorski A
Pediatr Dermatol 2015 Sep-Oct;32(5):641-6. Epub 2015 Mar 30 doi: 10.1111/pde.12541. PMID: 25824144
Rickelt S, Pieperhoff S
Cell Tissue Res 2012 May;348(2):325-33. Epub 2012 Mar 27 doi: 10.1007/s00441-012-1365-0. PMID: 22450909Free PMC Article
Barber S, Day P, Judge M, Toole EO, Fayle S
Int J Paediatr Dent 2012 Sep;22(5):390-6. Epub 2012 Mar 8 doi: 10.1111/j.1365-263X.2012.01230.x. PMID: 22404234
Williams T, Machann W, Kühler L, Hamm H, Müller-Höcker J, Zimmer M, Ertl G, Ritter O, Beer M, Schönberger J
Clin Res Cardiol 2011 Dec;100(12):1087-93. Epub 2011 Jul 26 doi: 10.1007/s00392-011-0345-9. PMID: 21789513Free PMC Article
Chalabreysse L, Senni F, Bruyère P, Aime B, Ollagnier C, Bozio A, Bouvagnet P
J Dent Res 2011 Jan;90(1):58-64. Epub 2010 Oct 12 doi: 10.1177/0022034510383984. PMID: 20940358

Diagnosis

Maqbool MF, Sajid M, Noeman A
J Coll Physicians Surg Pak 2017 Apr;27(4):250-251. doi: 2599. PMID: 28492156
Molho-Pessach V, Sheffer S, Siam R, Tams S, Siam I, Awwad R, Babay S, Golender J, Simanovsky N, Ramot Y, Zlotogorski A
Pediatr Dermatol 2015 Sep-Oct;32(5):641-6. Epub 2015 Mar 30 doi: 10.1111/pde.12541. PMID: 25824144
Salam AA, Remadevi KS, Kurup RP
Indian Pediatr 2013 Jun 8;50(6):596-8. PMID: 23942402
Barber S, Day P, Judge M, Toole EO, Fayle S
Int J Paediatr Dent 2012 Sep;22(5):390-6. Epub 2012 Mar 8 doi: 10.1111/j.1365-263X.2012.01230.x. PMID: 22404234
Nehme N, El Malti R, Roux-Buisson N, Caignault JR, Bouvagnet P
Cell Tissue Res 2012 May;348(2):261-4. Epub 2012 Feb 17 doi: 10.1007/s00441-012-1351-6. PMID: 22350851

Prognosis

Herbert Pratt C, Potter CS, Fairfield H, Reinholdt LG, Bergstrom DE, Harris BS, Greenstein I, Dadras SS, Liang BT, Schofield PN, Sundberg JP
Exp Mol Pathol 2015 Apr;98(2):164-72. Epub 2015 Feb 7 doi: 10.1016/j.yexmp.2015.01.015. PMID: 25659760Free PMC Article
Bottio T, Bejko J, Tarzia V, Gerosa G
Int J Artif Organs 2014 Jul 31;37(7):563-6. Epub 2014 Jul 2 doi: 10.5301/ijao.5000331. PMID: 25044388
Williams T, Machann W, Kühler L, Hamm H, Müller-Höcker J, Zimmer M, Ertl G, Ritter O, Beer M, Schönberger J
Clin Res Cardiol 2011 Dec;100(12):1087-93. Epub 2011 Jul 26 doi: 10.1007/s00392-011-0345-9. PMID: 21789513Free PMC Article
Ortaç R, Tavlı V, Diniz G, Yılmazer MM, Demirpençe S
Anadolu Kardiyol Derg 2011 Jun 1;11(4):E17-8. doi: 10.5152/akd.2011.100. PMID: 21592926
Chalabreysse L, Senni F, Bruyère P, Aime B, Ollagnier C, Bozio A, Bouvagnet P
J Dent Res 2011 Jan;90(1):58-64. Epub 2010 Oct 12 doi: 10.1177/0022034510383984. PMID: 20940358

Clinical prediction guides

Herbert Pratt C, Potter CS, Fairfield H, Reinholdt LG, Bergstrom DE, Harris BS, Greenstein I, Dadras SS, Liang BT, Schofield PN, Sundberg JP
Exp Mol Pathol 2015 Apr;98(2):164-72. Epub 2015 Feb 7 doi: 10.1016/j.yexmp.2015.01.015. PMID: 25659760Free PMC Article

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