Synonym(s)
Cole disease
HistoryThis section has been translated automatically.
Cole 1976
DefinitionThis section has been translated automatically.
Very rare, apparently autosomal dominant inherited genodermatosis, the entity of which is currently still unknown.
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Occurrence/EpidemiologyThis section has been translated automatically.
After the initial description by Cole in 1976, less than 10 cases have been reported so far. 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 occur at birth or in early childhood.
Clinical featuresThis section has been translated automatically.
The disease is characterized by a combination of congenital or early childhood papular palmoplantar hyperkeratoses (palmoplantar keratoses) and irregularly limited "guttata-like" hypopigmentation, often restricted to the extremities. There are no associated diseases.
HistologyThis section has been translated automatically.
- Palmoplantar keratosis: Acanthotic epidermis with hypergranulosis and mostly massive orthohyperkeratosis; no epidermolysis, vacuolisation or elastorrhexis; no corneal lamella.
- In the hypopigmented areas there is a normal number of melanocytes and a reduced degree of pigmentation of the keratinocytes.
TherapyThis section has been translated automatically.
Symptomatic; fatty exteriors, possibly keratolytic exteriors.
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
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Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer