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July 1963

Blood Coagulation in Epidermolysis Bullosa Hereditaria: Genetic Observations

Author Affiliations


Present address: V. D. Institute, Djl. Indrapura, Sourabaya, Indonesia (Dr. Tio).

Arch Dermatol. 1963;88(1):24-31. doi:10.1001/archderm.1963.01590190030003

A study was made of patients with epidermolysis bullosa hereditaria (EBH), and their relatives, in nine unrelated families.

Practically all the patients with clinical EBH exhibited an unusual pair of coagulation findings: a tendency toward shortened clotting times and resistance to the anticoagulant action of intravenous heparin on the one hand, yet unusual sensitivity to heparin in vitro on the other. A number of otherwise healthy relatives had the same coagulation defects.

If the paradoxical coagulation abnormality is considered as intrinsic to EBH, perhaps through an error in hyaluronidase metabolism, then the transmission of EBH appears to represent a dominant trait, with a person having only the clotting changes representing the heterozygous intermediate state.

Other ectodermal tissues apart from the skin and nails seem also to be affected in these families.

Phosphorylated hesperidin seems to give some relief in the beginning of the treatment.

It is, further, most unlikely that this disease has any connection with a disturbance of porphyrin metabolism.

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