Weber-Cockayne syndrome
Description
Weber-Cockayne syndrome is a form of epidermolysis bullosa simplex (EBS), an inherited genetic disorder characterised by recurrent, non-inflammatory blistering (bullous eruptions) primarily affecting the palms and soles. Blistering is typically triggered by mechanical trauma—commonly during early childhood, but cases may also present in adulthood, particularly during warm seasons. The condition affects both sexes equally.
The blisters cause sharp pain upon rupture but usually heal without scarring or skin thickening. Episodes may be exacerbated by warm weather, friction, moisture, and pressure. In some cases, hyperhidrosis (excessive sweating) is associated. The condition follows an autosomal dominant inheritance pattern, though autosomal recessive cases have been described. Genetic mutations in the keratin 5 (KRT5) or keratin 14 (KRT14) genes weaken the cytoskeleton of basal keratinocytes, resulting in cytolysis and blister formation.
Weber-Cockayne syndrome is now recognised as a localized, mild subtype of epidermolysis bullosa simplex Koebner. The eponym honours British dermatologist Frederick Parkes Weber and British paediatrician Edward Alfred Cockayne, who independently published key clinical descriptions of the syndrome. The condition is typically referred to in dermatological, genetic, and paediatric contexts.
History
1895 – George.T. Elliot provided one of the earliest reports of blistering skin conditions resembling modern EBS.
1909 – Leonard B. Cane described similar recurrent blistering cases in British Medical Journal.
1926 – Frederick Parkes Weber (1863–1962) under the title, ‘Recurrent Bullous Eruption on the Feet in a Child‘, showed before the Dermatological Section of the Royal Society of Medicine a boy with the same signs and symptoms. He was 4 years of age, born to apparently normal parents, and had numerous large bullae on the soles of the feet in warm weather. Bullae had first appeared at the age of 1 year.
I suggest that the case is a mild atypical form of epidermolysis bullosa, the exciting factor being irritation of the feet in moist socks during warm weather. The points against this suggested diagnosis are:-(1) the absence of ordinary traumatism as a direct exciting agent. I failed artifically to produce a bulla by moderate rubbing of the dorsum of either foot; (2) the hands, nails and face have not yet been affected; (3) the absence of any familial history of the disease.
1938 – Edward Alfred Cockayne (1880–1956) detailed clinical cases establishing the entity now recognised as Weber-Cockayne syndrome.
1955 – Albert Touraine (1883–1961) in L’hérédité en médecine included reference to familial cases and genetic transmission.
Associated Persons
- George T Elliott
- Leonard B. Cane
- Frederick Parkes Weber (1863–1962)
- Edward Alfred Cockayne (1880–1956)
- Albert Touraine (1883–1961)
Alternative names
- Epidermolysis bullosa simplex (EBS) Koebner
References
Historical references
- Elliot GT. Two cases of epidermolysis bullosa. Journal of cutaneous and genito-urinary diseases. 1895; 13: 10–18.
- Cane LB. Epidermolysis bullosa. Br Med J 1909; 1: 1114-1116
- Weber FP. Recurrent Bullous Eruption on the Feet in a Child. Proc R Soc Med. 1926;19(Dermatol Sect):72.
- Cockayne EA. Recurrent bullous eruption of the feet. Br J Dermatol Syph. 1938;50:358–362.
- Touraine A. L’hérédité en médecine. Paris: Masson; 1955.
Eponymous term review
- Whittock NV, et al. Mutation in codon 161 of keratin 5 allele in EBS. J Invest Dermatol. 1993.
- Cho JW, Ryu HW, Kim SA, Nakano H, Lee KS. Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene. Ann Dermatol. 2014 Dec;26(6):739-42.
eponymictionary
the names behind the name
