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June 1978, Vol 114, No. 6 >
Article | June 1978

a1-Antitrypsin Deficiency Associated With Persistent Cutaneous Vasculitis: Title and subTitle BreakOccurrence in a Child With Liver Disease

Flemming Brandrup, MD; Poul Aa. Østergaard, MD
[+] Author Affiliations

Accepted for publication Sept 14, 1977.

Reprint requests to the Department of Dermatology, Gentofte Hospital, Niels Andersensvej 65, DK-2900, Hellerup, Denmark (Dr Brandrup).


From the Departments of Dermatology (Dr Brandrup) and Pediatrics (Dr Østergaard), Odense (Denmark) University Hospital. Dr Brandrup is now with the Department of Dermatology, Gentofte Hospital, Hellerup, Denmark.


Arch Dermatol. 1978;114(6):921-924. doi:10.1001/archderm.1978.01640180055013
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References
Comments

• α1-Antitrypsin (α1-AT) deficiency is an autosomal recessive inherited disease. The serum concentration of the protease inhibitor (Pi) α1-AT is controlled by a set of codominant allelic genes, constituting the so-called Pi system. Abnormal conditions reported in connection with severe α1-AT deficiency of the PiZZ type have been, in the newborn, cholestasis and progressive juvenile cirrhosis, and in adults, panacinar pulmonary emphysema and liver disease. Skin changes have not been described previously in connection with this disease picture.

The case is persistent cutaneous vasculitis in a 2-year-old child with α1-AT deficiency of the PiZZ type, heterozygosity for the Duarte variant of galactose-1-phosphate uridyl transferase, and neonatal liver disease. A pathogenetic relationship may exist between the biochemical defects and both the skin and liver diseases.

(Arch Dermatol 114:921-924, 1978)

REFERENCES

1 +
Fagerhol MK, Laurell CB:  The Pi-system: Inherited variants of serum alpha1-antitrypsin . Prog Med Genet 7:96-111, 1970;.
2 +
Eriksson S:  Studies in alpha-1-antitrypsin deficiency . Acta Med Scand 177( (suppl 432) ):1-85, 1965;.
3 +
Laurell CB, Sveger T:  Mass screening of newborn Swedish infants for alpha1-antitrypsin deficiency . Am J Hum Genet 27:213-217, 1975;.
4 +
Østergaard PAA:  Hereditary alpha1-antitrypsin deficiency and liver cirrhosis in children . Dan Med Bull 20:96-101, 1973;.
5 +
Asarian J, Archibald RWR, Lieberman J:  Childhood cirrhosis associated with alpha-1-antitrypsin deficiency . J Pediatr 86:844-850, 1975;.
6 +
Sharp HL, Bridges RA, Krivit W, et al:  Cirrhosis associated with alpha-1-antitrypsin deficiency: A previously unrecognized inherited disorder . J Lab Clin Med 73:934-939, 1969;.
7 +
Kueppers F, Dönhardt A:  Obstructive lung disease in heterozygotes for alpha-1-antitrypsin deficiency . Ann Intern Med 80:209-212, 1974;.
8 +
Sharp HL:  Alpha-1-antitrypsin deficiency . Hosp Pract 6:89-96, 1971;.
9 +
Aagenaes Ø, Matlary A, Elgjo K, et al:  Neonatal cholestasis in alpha-1-antitrypsin deficient children . Acta Paediatr Scand 61:632-642, 1972;.
10 +
Berg NO, Eriksson S:  Liver disease in adults with alpha1-antitrypsin deficiency . N Engl J Med 287:1264-1267, 1972;.
11 +
Campra JL, Craig JR, Peters RL, et al:  Cirrhosis associated with partial deficiency of alpha-1-antitrypsin in an adult . Ann Intern Med 78:233-238, 1973;.
12 +
Cohen KL, Rubin PE, Echevarria RA, et al:  Alpha-1-antitrypsin deficiency, emphysema, and cirrhosis in an adult . Ann Intern Med 78:227-232, 1973;.
13 +
DeLellis RA, Balogh K, Merk FB, et al:  Distinctive hepatic cell globules in adult alpha-1-antitrypsin deficiency . Arch Pathol 94:308-316, 1972;.
14 +
Gordon HW, Dixon J, Rogers JC, et al:  Alpha1-antitrypsin accumulation in livers of emphysematous patients with A1-AT deficiency . Hum Pathol 3:361-370, 1972;.
15 +
Eriksson S, Larsson C:  Purification and partial characterization of PAS-positive inclusion bodies from the liver in alpha1-antitrypsin deficiency . N Engl J Med 292:176-180, 1975;.
16 +
Weiser MM, Lamont JT, Walker WA:  Alpha1-antitrypsin deficiency: A defect of secretion . N Engl J Med 292:205-206, 1975;.
17 +
Weitkamp LR, Sayre JW, Schwartz RH, et al:  `Duarte variant with clinical signs' has alpha1-antitrypsin genotype ZZ . J Med Genet 13:46-48, 1976;.
18 +
Heydenreich G, From E, Diederichsen H:  Some unusual findings obtained by the immunofluorescence method in bullous pemphigoid and benign mucous membrane pemphigoid . Acta Derm Venereol 52:201-204, 1972;.
19 +
Birkeland SA:  The immunological capacity of peripheral lymphocytes in a blast-transformation system using frozen-stored cells . Cryobiology 13:433-441, 1976;.
20 +
Birkeland SA:  Rosette formation tests for T and B lymphocytes using frozen-stored cells . Acta Pathol Microbiol Scand C 83:298-302, 1975;.
21 +
Ward AM, Underwood JCE:  Alpha1-antitrypsin deficiency and liver disease in childhood: Genetic, immunochemical, histological, and ultrastructural diagnosis . J Clin Pathol 27:467-472, 1974;.
22 +
Odievre M, Martin IP, Hadchouel M, et al:  Alpha1-antitrypsin deficiency and liver disease in children: Phenotypes, manifestations, and prognosis . Pediatrics 57:226-231, 1976;.
23 +
Sveger T:  Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants . N Engl J Med 294:1316-1321, 1976;.
24 +
Tokoro Y, Eisen AZ, Jeffrey JJ:  Characterization of a collagenase from rat skin . Biochim Biophys Acta 258:289-302, 1972;.
25 +
Sams WM, Thorne EG, Small P, et al:  Leukocytoclastic vasculitis . Arch Dermatol 112:219-226, 1976;.
26 +
Moroz SP, Cutz E, Balfe JW, et al:  Membranoproliferative glomerulonephritis in childhood cirrhosis associated with alpha1-antitrypsin deficiency . Pediatrics 57:232-238, 1976;.
27 +
Lieberman J, Mittman C, Gordon HW:  Alpha1-antitrypsin in the livers of patients with emphysema . Science 175:63-65, 1972;.

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

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1 +
Fagerhol MK, Laurell CB:  The Pi-system: Inherited variants of serum alpha1-antitrypsin . Prog Med Genet 7:96-111, 1970;.
2 +
Eriksson S:  Studies in alpha-1-antitrypsin deficiency . Acta Med Scand 177( (suppl 432) ):1-85, 1965;.
3 +
Laurell CB, Sveger T:  Mass screening of newborn Swedish infants for alpha1-antitrypsin deficiency . Am J Hum Genet 27:213-217, 1975;.
4 +
Østergaard PAA:  Hereditary alpha1-antitrypsin deficiency and liver cirrhosis in children . Dan Med Bull 20:96-101, 1973;.
5 +
Asarian J, Archibald RWR, Lieberman J:  Childhood cirrhosis associated with alpha-1-antitrypsin deficiency . J Pediatr 86:844-850, 1975;.
6 +
Sharp HL, Bridges RA, Krivit W, et al:  Cirrhosis associated with alpha-1-antitrypsin deficiency: A previously unrecognized inherited disorder . J Lab Clin Med 73:934-939, 1969;.
7 +
Kueppers F, Dönhardt A:  Obstructive lung disease in heterozygotes for alpha-1-antitrypsin deficiency . Ann Intern Med 80:209-212, 1974;.
8 +
Sharp HL:  Alpha-1-antitrypsin deficiency . Hosp Pract 6:89-96, 1971;.
9 +
Aagenaes Ø, Matlary A, Elgjo K, et al:  Neonatal cholestasis in alpha-1-antitrypsin deficient children . Acta Paediatr Scand 61:632-642, 1972;.
10 +
Berg NO, Eriksson S:  Liver disease in adults with alpha1-antitrypsin deficiency . N Engl J Med 287:1264-1267, 1972;.
11 +
Campra JL, Craig JR, Peters RL, et al:  Cirrhosis associated with partial deficiency of alpha-1-antitrypsin in an adult . Ann Intern Med 78:233-238, 1973;.
12 +
Cohen KL, Rubin PE, Echevarria RA, et al:  Alpha-1-antitrypsin deficiency, emphysema, and cirrhosis in an adult . Ann Intern Med 78:227-232, 1973;.
13 +
DeLellis RA, Balogh K, Merk FB, et al:  Distinctive hepatic cell globules in adult alpha-1-antitrypsin deficiency . Arch Pathol 94:308-316, 1972;.
14 +
Gordon HW, Dixon J, Rogers JC, et al:  Alpha1-antitrypsin accumulation in livers of emphysematous patients with A1-AT deficiency . Hum Pathol 3:361-370, 1972;.
15 +
Eriksson S, Larsson C:  Purification and partial characterization of PAS-positive inclusion bodies from the liver in alpha1-antitrypsin deficiency . N Engl J Med 292:176-180, 1975;.
16 +
Weiser MM, Lamont JT, Walker WA:  Alpha1-antitrypsin deficiency: A defect of secretion . N Engl J Med 292:205-206, 1975;.
17 +
Weitkamp LR, Sayre JW, Schwartz RH, et al:  `Duarte variant with clinical signs' has alpha1-antitrypsin genotype ZZ . J Med Genet 13:46-48, 1976;.
18 +
Heydenreich G, From E, Diederichsen H:  Some unusual findings obtained by the immunofluorescence method in bullous pemphigoid and benign mucous membrane pemphigoid . Acta Derm Venereol 52:201-204, 1972;.
19 +
Birkeland SA:  The immunological capacity of peripheral lymphocytes in a blast-transformation system using frozen-stored cells . Cryobiology 13:433-441, 1976;.
20 +
Birkeland SA:  Rosette formation tests for T and B lymphocytes using frozen-stored cells . Acta Pathol Microbiol Scand C 83:298-302, 1975;.
21 +
Ward AM, Underwood JCE:  Alpha1-antitrypsin deficiency and liver disease in childhood: Genetic, immunochemical, histological, and ultrastructural diagnosis . J Clin Pathol 27:467-472, 1974;.
22 +
Odievre M, Martin IP, Hadchouel M, et al:  Alpha1-antitrypsin deficiency and liver disease in children: Phenotypes, manifestations, and prognosis . Pediatrics 57:226-231, 1976;.
23 +
Sveger T:  Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants . N Engl J Med 294:1316-1321, 1976;.
24 +
Tokoro Y, Eisen AZ, Jeffrey JJ:  Characterization of a collagenase from rat skin . Biochim Biophys Acta 258:289-302, 1972;.
25 +
Sams WM, Thorne EG, Small P, et al:  Leukocytoclastic vasculitis . Arch Dermatol 112:219-226, 1976;.
26 +
Moroz SP, Cutz E, Balfe JW, et al:  Membranoproliferative glomerulonephritis in childhood cirrhosis associated with alpha1-antitrypsin deficiency . Pediatrics 57:232-238, 1976;.
27 +
Lieberman J, Mittman C, Gordon HW:  Alpha1-antitrypsin in the livers of patients with emphysema . Science 175:63-65, 1972;.

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