Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: DCWHK
Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy
Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Carvajal syndrome
Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
Number of Symptoms 21
OrphanetNr: 65282
OMIM Id: 605676
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Monogenic
9738775 [IBIS]
Age of onset: Childhood
23137101 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
 -Rare genetic disease
 -Rare skin disease
Syndrome associated with dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Carvajal syndrome is characterized by palmoplantar keratoderma, curly hair, dilated cardiomyopathy, especially on the left ventricle side, and early morbidity.

Symptom Information: Sort by abundance 

1
 (HPO:0003115) Abnormal EKG 11063735 IBIS 44 / 7739
2
 (HPO:0012663) Mildly reduced ejection fraction 23137101 IBIS 4 / 7739
3
 (HPO:0001644) Dilated cardiomyopathy 20940358 IBIS 141 / 7739
4
 (HPO:0001685) Myocardial fibrosis 23137101 IBIS 30 / 7739
5
 (HPO:0005150) Abnormal atrioventricular conduction 9738775 IBIS 16 / 7739
6
 (HPO:0004756) Ventricular tachycardia rare [HPO:skoehler] 9738775 IBIS 55 / 7739
7
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 11063735 IBIS 232 / 7739
8
 (HPO:0006670) Impaired myocardial contractility 9738775 IBIS 9 / 7739
9
 (HPO:0001699) Sudden death 9738775 IBIS 34 / 7739
10
 (HPO:0100759) Clubbing of fingers 9738775 IBIS 40 / 7739
11
 (HPO:0001808) Fragile nails 9738775 IBIS 21 / 7739
12
 (HPO:0002224) Woolly hair Very frequent [Orphanet] 11063735 IBIS 26 / 7739
13
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 11063735 IBIS 216 / 7739
14
 (HPO:0007475) Congenital bullous ichthyosiform erythroderma 9738775 IBIS 4 / 7739
15
 (HPO:0000982) Palmoplantar keratoderma 11063735 IBIS 40 / 7739
16
 (HPO:0200037) Skin vesicle Occasional [Orphanet] 19924139 IBIS 102 / 7739
17
 (MedDRA:10062311) Electrocardiogram low voltage 9738775 IBIS 1 / 7739
18
 (MedDRA:10023369) Keratosis follicular 9738775 IBIS 5 / 7739
19
 (OMIM) Dyskeratosis 9738775 IBIS 2 / 7739
20
 (OMIM) Epidermal spongiosis 9738775 IBIS 2 / 7739
21
 (OMIM) Vacuolized keratinocytes 20940358 IBIS 2 / 7739

Associated genes:

DSP;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
DSP rs121912997 pathogenic RCV000018339.24
DSP rs397514039 pathogenic RCV000018331.28
DSP rs397514045 pathogenic RCV000054449.24
DSP rs794727381 pathogenic RCV000176401.1

Additional Information:

Clinical Description OMIM Carvajal-Huerta (1998) described 18 patients with a confirmation of epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy, examined clinically and histologically in Ecuador between 1970 and 1997. Cardiologic examinations were performed in 12 of the patients. The patients ...
Molecular genetics OMIM Desmosomes are major cell adhesion junctions, particularly prominent in the epidermis and cardiac tissue and are important for the rigidity and strength of the cells (Green et al., 1990; for a review, see the entry for desmoplakin, 125647). ...