Keratosis palmoplantaris with hypopigmentation
Synonym(s)
Cole disease
History
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Cole 1976
Definition
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Very rare, apparently autosomal dominant inherited genodermatosis, the entity of which is currently still unknown.
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Occurrence/Epidemiology
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After the initial description by Cole in 1976, less than 10 cases have been reported so far. Prevalence unknown.
Etiopathogenesis
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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.
Manifestation
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The skin changes occur at birth or in early childhood.
Clinic
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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.
Histology
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- 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.
Therapy
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Symptomatic; fatty exteriors, possibly keratolytic exteriors.
Literature
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- 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.
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Prof. Dr. med. Peter Altmeyer