Cole syndrome
Synonym(s)
Cole disease
History
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Cole 1976
Definition
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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.
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Occurrence/Epidemiology
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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 appear at birth or in early childhood. There are no associated diseases.
Histology
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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.
Therapy
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Symptomatic; greasy externals, possibly keratolytic externals.
Note(s)
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After the first description by Cole in 1976, only two other cases or families have been reported so far.
Case report(s)
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.
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