Hypopigmentation-punctate palmoplantar keratoderma syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: COLED
Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification
Hypopigmentation and punctate keratosis of the palms and soles
Guttate hypopigmentation and punctate palmoplantar keratoderma
Cole disease
Number of Symptoms 8
OrphanetNr: 324561
OMIM Id: 615522
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
24075184 [IBIS]
Age of onset: Neonatal
Infancy
24075184 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000956) Acanthosis nigricans 24075184 IBIS 54 / 7739
2
 (HPO:0007441) Hyperpigmented/hypopigmented macules 24075184; 26617416 IBIS 6 / 7739
3
 (HPO:0000962) Hyperkeratosis 24075184 IBIS 216 / 7739
4
 (HPO:0010766) Ectopic calcification 26617416; 24075184 IBIS 5 / 7739
5
 (HPO:0045059) Hyperkeratotic papule 24075184; 26617416 IBIS 4 / 7739
6
 (OMIM) Calcinosis cutis 24075184 IBIS 2 / 7739
7
 (OMIM) Hypergranulosis 24075184 IBIS 4 / 7739
8
 (OMIM) Hyperorthokeratosis 24075184 IBIS 1 / 7739

Associated genes:

ENPP1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cole disease is a rare autosomal dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies ...
Clinical Description OMIM Cole (1976) reported a family in which 6 members over 3 generations had a diffuse variegated pattern of hypopigmentation affecting almost the entire body; all affected members also had punctate keratosis of the palms and soles. The proband was ...
Molecular genetics OMIM In 2 French families with hypopigmented macules primarily over the extremities and hyperkeratotic papules of the palms and soles, as well as the similarly affected family previously described by Moore et al. (2009), Eytan et al. (2013) performed whole-exome ...