Cole syndrome
Synonym(s)
Cole disease
HistoryThis section has been translated automatically.
Cole 1976
DefinitionThis section has been translated automatically.
Rare autosomal dominant inherited genodermatosis, the entity of which is still unknown. The disease is characterized by a combination of congenital or early childhood papular palmoplantar hyperkeratoses and irregularly limited guttata-like hypopigmentation, often restricted to the extremities.
Occurrence/EpidemiologyThis section has been translated automatically.
prevalence unknown
EtiopathogenesisThis section has been translated automatically.
The underlying genetic defect is not known. It is suspected that the transfer of melanosomes is disturbed and that there is an undefined keratinisation disorder.
ManifestationThis section has been translated automatically.
The skin changes appear at birth or in early childhood. There are no associated diseases.
HistologyThis section has been translated automatically.
Acanthotic epidermis with hypergranulosis and mostly massive orthohyperkeratosis; no epidermolysis, vacuolisation or elastorrhexis; no corneal lamella. Normal number of melanocytes in the hypopigmented areas, reduced pigmentation of the keratinocytes.
TherapyThis section has been translated automatically.
Symptomatic; greasy externals, possibly keratolytic externals.
Note(s)This section has been translated automatically.
After the first description by Cole in 1976, only two other cases or families have been reported so far.
Case report(s)This section has been translated automatically.
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LiteratureThis section has been translated automatically.
- Moore MM et al (2009) Cole Disease: Guttate hypopigmentation and punctate palmoplantar keratoderma. Arch Dermatol 2009145: 495-497
- Vignale R et al (2002) Cole disease: hypopigmentation with punctate keratosis of the palms and soles. Pediatric dermatol 19: 302-306