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Epidermolytic hyperkeratosis - Wikipedia, the free encyclopedia

Epidermolytic hyperkeratosis

From Wikipedia, the free encyclopedia

Epidermolytic hyperkeratosis
Classifications and external resources
ICD-10 Q80.3
DiseasesDB 33392
eMedicine derm/590 

Epidermolytic hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma Brocq is a rare skin disease in the ichthyosis family affecting around 1 in 250,000 people.

At birth, affected babies are called "enfant brûlée", because they look red and have a fragile top layer of skin which easily forms blisters and wounds. Such injury can be caused by diapers or just touching the baby. The wounds should be properly cared for, otherwise they are at risk from infection. The skin is stressed by birth. It gets better after some weeks and less blisters are formed. Some months later the skin starts scaling caused by hyperkeratosis. There is a fairly large variation in the degree and extent of the scaling and the blisters. In particular, some patients have scaling and blisters on the palms and soles of the feet whereas others do not. Usually scaling is seen on the rest of the body, often concentrated around the joints.

Additionally, the skin develops blisters (hence the bullous part of the name). Typically these will be more common in children than in adults.

This is a dominant genetic condition caused by mutations in the genes encoding the proteins keratin 1 or keratin 10. Keratin 1 is associated with the variants affecting the palms and soles, and keratin 10 is associated with the variants in which these are unaffected.

Key findings:

skin: generalized redness; thick, generally dark, scales that tend to form parallel rows of spines or ridges,especially near large joints; the skin is fragile and blisters easily following trauma; extent of blistering and amount of scale is variable

nails: thickening or dystrophy of one or more nails (common)

hair: often sparse; no shaft abnormalities

[edit] See also

[edit] References

  • Jonathan Barker and John McGrath, Cell Adhesion and Migration in Skin Disease, ISBN 90-5823-067-8
  • Heiko Traupe, The Ichthyoses A Guide to Clinical Diagnosis, Genetic Counseling and Therapy, 1989, Springer Verlag, Heidelberg, ISBN 3-540-19222-0

[edit] External links

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