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May 1973, Vol 125, No. 5 >
Article | May 1973

Anemia in Epidermolysis Bullosa Letalis FREE

Marilyn A. Hruby, MD; Nancy B. Esterly, MD
[+] Author Affiliations

Received for publication Sept 1, 1972; accepted Dec 29.

Reprint requests to Department of Pediatrics, University of Illinois Medical Center, 840 S Wood St, Chicago, IL 60612 (Dr. Hruby).


Am J Dis Child. 1973;125(5):696-699. doi:10.1001/archpedi.1973.04160050050009.
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Epidermolysis bullosa letalis (EBL), an autosomal recessive disorder, is usually fatal in early infancy. Patients surviving the neonatal period generally have a moderate to severe refractory anemia, the pathogenesis of which has never been clarified. Hematological studies were performed in two brothers, ages 12 and 13, with documented EBL. Results included low normal erythrocyte survivals, accelerated plasma iron clearance, mildly decreased erythrocyte iron utilization, and increased plasma iron turnover. Absorption of orally administered iron was demonstrated in both patients. Our findings support the belief that the anemia cannot be attributed to a single mechanism, but represents the anemia of chronic inflammation and infection complicated by iron and protein loss via the skin. Therapy for the anemia must include not only replacement iron in large doses, but also meticulous skin care.

REFERENCES

1 +
Herlitz G:  Kongenitaler, nicht syphilitischer pemphigus. Eine Ubersicht nebst Beschreibung einer neuen Krankheitsform (Epidermolysis bullosa hereditaria letalis) . Acta Paediatr 17:315-371, 1935;.
2 +
Cross HE, Wells RS, Esterly JR:  Inheritance in epidermolysis bullosa letalis . J Med Genet 5:189-196, 1968;.
3 +
Simone JV, Vanderheiden J, Abildgaard CF:  A semiautomatic one-stage factor VIII assay with a commercially prepared standard . J Lab Clin Med 69:706-712, 1967;.
4 +
Ratnoff OD, Menzie C:  A new method for the determination of fibrinogen in small samples of plasma . J Lab Clin Med 37:316-320, 1951;.
5 +
Sterling K:  The turnover rate of serum albumin in man as measured by I131-tagged albumin . J Clin Invest 30:1228-1237, 1951;.
6 +
Pearson R:  The mechanobullous diseases , in Fitzpatrick TB, et al (eds): Dermatology in General Medicine . New York, McGraw-Hill Book Co Inc, 1971;, pp 621-643.
7 +
Bergenholtz A, Olsson 0:  Epidermolysis bullosa hereditaria: I. Epidermolysis bullosa hereditaria letalis: A survey of the literature and report of 11 cases . Acta Derm Venereol 48:220-241, 1968;.
8 +
Arwill T, Bergenholtz A, Olsson 0:  Epidermolysis bullosa hereditaria: III. A histologic study of changes in teeth in the polydysplastic dystrophic and lethal forms . Oral Surg 19:723-744, 1965;.
9 +
Pearson RW:  Studies on the pathogenesis of epidermolysis bullosa . J Invest Dermatol 39:551-575, 1962;.
10 +
Cartwright GE:  The anemia of chronic disorders . Semin Hematol 3:351-375, 1966;.
11 +
Freireich EJ, et al:  The effect of inflammation on the utilization of erythrocyte and transferrin bound radioiron for red cell production . Blood 12:972-983, 1957;.
12 +
Honig GR, Lindley A:  Deficiency of Hageman factor (factor XII) in patients with the nephrotic syndrome . J Pediatr 78:633-637, 1971;.
13 +
Gitlin D, Janeway CA, Farr LE:  Studies on the metabolism of plasma proteins in the nephrotic syndrome: I. Albumin, γ-globulin and iron binding globulin . J Clin Invest 35:44-56, 1956;.
14 +
Rifkind D, et al:  Urinary excretion of ironbinding protein in the nephrotic syndrome . N Engl J Med 265:115-118, 1961;.
15 +
Roberts RC, Makey G, Seal US:  Human transferrin . J Biol Chem 241:4907-4913, 1966;.
16 +
Finch CA, et al:  Ferrokinetics in man . Medicine 49:17-53, 1970;.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

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References

1 +
Herlitz G:  Kongenitaler, nicht syphilitischer pemphigus. Eine Ubersicht nebst Beschreibung einer neuen Krankheitsform (Epidermolysis bullosa hereditaria letalis) . Acta Paediatr 17:315-371, 1935;.
2 +
Cross HE, Wells RS, Esterly JR:  Inheritance in epidermolysis bullosa letalis . J Med Genet 5:189-196, 1968;.
3 +
Simone JV, Vanderheiden J, Abildgaard CF:  A semiautomatic one-stage factor VIII assay with a commercially prepared standard . J Lab Clin Med 69:706-712, 1967;.
4 +
Ratnoff OD, Menzie C:  A new method for the determination of fibrinogen in small samples of plasma . J Lab Clin Med 37:316-320, 1951;.
5 +
Sterling K:  The turnover rate of serum albumin in man as measured by I131-tagged albumin . J Clin Invest 30:1228-1237, 1951;.
6 +
Pearson R:  The mechanobullous diseases , in Fitzpatrick TB, et al (eds): Dermatology in General Medicine . New York, McGraw-Hill Book Co Inc, 1971;, pp 621-643.
7 +
Bergenholtz A, Olsson 0:  Epidermolysis bullosa hereditaria: I. Epidermolysis bullosa hereditaria letalis: A survey of the literature and report of 11 cases . Acta Derm Venereol 48:220-241, 1968;.
8 +
Arwill T, Bergenholtz A, Olsson 0:  Epidermolysis bullosa hereditaria: III. A histologic study of changes in teeth in the polydysplastic dystrophic and lethal forms . Oral Surg 19:723-744, 1965;.
9 +
Pearson RW:  Studies on the pathogenesis of epidermolysis bullosa . J Invest Dermatol 39:551-575, 1962;.
10 +
Cartwright GE:  The anemia of chronic disorders . Semin Hematol 3:351-375, 1966;.
11 +
Freireich EJ, et al:  The effect of inflammation on the utilization of erythrocyte and transferrin bound radioiron for red cell production . Blood 12:972-983, 1957;.
12 +
Honig GR, Lindley A:  Deficiency of Hageman factor (factor XII) in patients with the nephrotic syndrome . J Pediatr 78:633-637, 1971;.
13 +
Gitlin D, Janeway CA, Farr LE:  Studies on the metabolism of plasma proteins in the nephrotic syndrome: I. Albumin, γ-globulin and iron binding globulin . J Clin Invest 35:44-56, 1956;.
14 +
Rifkind D, et al:  Urinary excretion of ironbinding protein in the nephrotic syndrome . N Engl J Med 265:115-118, 1961;.
15 +
Roberts RC, Makey G, Seal US:  Human transferrin . J Biol Chem 241:4907-4913, 1966;.
16 +
Finch CA, et al:  Ferrokinetics in man . Medicine 49:17-53, 1970;.

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