Chapter 131 Cutaneous Changes in Errors of Amino Acid Metabolism

Chapter 131
Cutaneous Changes in
Errors of Amino Acid
Metabolism
Peter H. Itin
REFERENCES
1. Saudubray JM, Charpentier C: Clinical approach
to inherited metabolic diseases. In: The Metabolic
and Molecular Bases of Inherited Disease,
8th edition, edited by CR Scriver et al. New York,
McGraw-Hill, 2001, p. 1327
2. Nyhan WL, Barshop BA, Ozand PT: Atlas of
Metabolic Diseases, 2nd edition, London, Hodder
Arnold, 2005
3. Scriver CR et al eds.: The Metabolic Basis of Inherited
Disease, 7th edition. New York, McGraw-Hill,
2001
4. Itin PH, Fistarol SK: Clinical and morphological
abnormalities of hair as a clue to the diagnosis of
genetic disorders. In: Progress in Monogenic Hair
Disorders, 1st edition, edited by E Sprecher. New
York, Nova Science Publishers, 2006, p. 7
5. Scott CR: The genetic tyrosinemias. Am J Med
Genet C Semin Med Genet 142:121, 2006 [PMID:
16602095]
6. Mitchell GA et al: Hypertyrosinemia. In: The
Metabolic and Molecular Bases of Inherited Disease,
8th edition, edited by CR Scriver et al. New York,
McGraw-Hill, 2001, p. 1777
7. Goldsmith LA, Reed J: Tyrosine-induced eye and
skin lesions: A treatable genetic disease. JAMA
236:382, 1976 [PMID: 132541]
8. Madan V, Gupta U: Tyrosinaemia type II with diffuse
plantar keratoderma and self-mutilation. Clin
Exp Dermatol 31:54, 2006 [PMID: 16309482]
9. Viglizzo GM et al: Richner-Hanhart syndrome
(tyrosinemia II): Early diagnosis of an incomplete
presentation with unusual findings. Pediatr Dermatol
23:259, 2006 [PMID: 16780475]
10. Macsai MS et al: Tyrosinemia type II: Nine cases
of ocular signs and symptoms. Am J Ophthalmol
132:522, 2001 [PMID: 11589874]
11. Salamon T et al: Four cases of Richner-Hanhart
syndrome (tyrosinemia type II) with neurological
symptomatology in a Yugoslav family. Hautarzt
39:149, 1988 [PMID: 2967808]
12. Goldsmith LA, Thorpe J, Roe CR: Hepatic enzymes
of tyrosine metabolism in tyrosinemia II. J Invest
Dermatol 73:530, 1979 [PMID: 41876]
13. Burns RP: Soluble tyrosine aminotransferase deficiency:
An unusual cause of corneal ulcers. Am J
Ophthalmol 73:400, 1972 [PMID: 4401188]
14. Minami-Hori M et al: Richner-Hanhart syndrome:
Report of a case with a novel mutation of tyrosine
aminotransferase. J Dermatol Sci 41:82, 2006
[PMID: 16318910]
15. Charfeddine C et al: Clinical and mutational
investigations of tyrosinemia type II in Northern
Tunisia: Identification and structural characterization
of two novel TAT mutations. Mol Genet
Metabol 88:184, 2006 [PMID: 16574453]
16. Leib SR, McGuire TC, Prieur DJ: Comparison of the
tyrosine aminotransferase cDNA and genomic
DNA sequences of normal mink and mink affected
with tyrosinemia type II. J Hered 96:302,
2005 [PMID: 15817712]
17. Schweizer W: Studies on the effect of l-tyrosine
on the white rat. J Physiol 106:167, 1947 [PMID:
16991750]
18. Goldsmith LA: Hemolysis and lysosomal activation
by solid state tyrosine. Biochem Biophys Res
Commun 64:558, 1975 [PMID: 167750]
19. Jackson JK et al: The involvement of phosphatidylinositol
3-kinase in crystal induced human
neutrophil activation. J Rheumatol 24:341, 1997
[PMID: 9034995]
20. Zmegac ZJ, Sarajlic MV: A rare form of an inheritable
palmar and plantar keratosis. Dermatologica
130:40, 1965 [PMID: 14276647]
21. Fraser NG et al: Tyrosinaemia type II (Richner-
Hanhart syndrome)—Report of two cases treated
with etretinate. Clin Exp Dermatol 12:440, 1987
[PMID: 2974325]
22. Itin PH, Lautenschlager S: Palmoplantar keratoderma
and associated syndromes. Semin Dermatol
14:152, 1995 [PMID: 7640196]
23. Cerone R et al: Pregnancy and tyrosinaemia
type II. J Inherit Metab Dis 25:317, 2002 [PMID:
12227462]

766 Chapter 131: Cutaneous Changes in Errors of Amino Acid Metabolism
24. National Institutes of Health Consensus Development
Panel: National Institutes of Health consensus
conference statement: Phenylketonuria:
Screening and management. Pediatrics 108:972,
2001
25. Hanley WB: Adult phenylketonuria. Am J Med
117:590, 2004 [PMID: 15465508]
26. Scriver CR, Kaufman S: Hyperphenylalaninemia:
Phenylalanine hydroxylase deficiency. In: The
Metabolic and Molecular Bases of Inherited Disease,
8th edition, edited by CR Scriver et al. New York,
McGraw-Hill, 2001, p. 1667
27. Schulpis KH et al: Biotin recycling impairment in
phenylketonuric children with seborrheic dermatitis.
Int J Dermatol 37:918, 1998 [PMID: 9888332]
28. Fitzpatrick TB, Miyamoto M: Competitive inhibition
of mammalian tyrosinase by phenylalanine
and its relationship to hair pigmentation in
phenylketonuria. Nature 179:199, 1957 [PMID:
13400136]
29. Nova MP, Kaufman M, Halperin A: Sclerodermalike
skin indurations in a child with phenylketonuria:
A clinicopathologic correlation and review
of the literature. J Am Acad Dermatol 26:329, 1992
[PMID: 1569253]
30. Belloso LM, Lowitt MH: Cutaneous findings in a
51-year-old man with phenylketonuria. J Am Acad
Dermatol 49:S190, 2003
31. Abadie V et al: Neonatal screening and long-term
follow-up of phenylketonuria: The French database.
Early Hum Dev 65:149, 2002
32. Verlinsky Y et al: Preimplantation testing for
phenylketonuria. Fertil Steril 76:346, 2001 [PMID:
11476784]
33. Lundstedt G et al: Adjustment and intelligence
among children with phenylketonuria in Sweden.
Acta Pediatr 90:1147, 2001 [PMID: 11697426]
34. Santos LL et al: The time has come: A new scene
for PKU treatment. Genet Mol Res 5:31, 2006
35. Nagasaki Y et al: Reversal of hypopigmentation in
phenylketonuria mice by adenovirus-mediated
gene transfer. Pediatr Res 45:465, 1999 [PMID:
10203136]
36. Weglage J et al: Individual blood-brain barrier
phenylalanine transport determines clinical
outcome in phenylketonuria. Ann Neurol 50:463,
2001 [PMID: 11601498]
37. Hellekson KL; National Institutes of Health: NIH
consensus statement on phenylketonuria. Am
Fam Physician 63:1430, 2001 [Review]
38. Coulter DL, Beals TF, Allen RJ: Neurotrichosis: Hairshaft
abnormalities associated with neurological
diseases. Dev Med Child Neurol 24:634, 1982
[PMID: 7141120]
39. Linnebank M et al: Argininosuccinate lyase (ASL)
deficiency: Mutation analysis in 27 patients and
a completed structure of the human ASL gene.
Hum Genet 111:350, 2002 [PMID: 12384776]
40. Kleijer WJ et al: Prenatal diagnosis of citrullinemia
and argininosuccinic aciduria: Evidence for a
transmission ratio distortion in citrullinemia.
Prenat Diagn 26:242, 2006 [PMID: 16475226]
41. Reid Sutton V et al: A mouse model of argininosuccinic
aciduria: Biochemical characterization.
Mol Genet Metabol 78:11, 2006
42. Levin B, Mackay HM, Oberholzer VG: Argininosuccinic
aciduria: An inborn error of amino acid
metabolism. Arch Dis Child 36:622, 1961 [PMID:
14464548]
43. Itin PH, Sarasin A, Pittelkow MR: Trichothiodystrophy:
Update on the sulfur-deficient brittle hair
syndromes. J Am Acad Dermatol 44:891, 2001
[PMID: 11369901]
44. Kvedar JC et al: Dietary management reverses
grooving and abnormal polarization of hair shafts
in argininosuccinase deficiency. Am J Med Genet
40:211, 1991 [PMID: 1897577]
45. Sperling LC, DiGiovanna JJ: “Curly” wood and tiger
tails: An explanation for light and dark banding
with polarization in trichothiodystrophy. Arch
Dermatol 139:1189, 2003 [PMID: 12975162]
46. Kleijer WJ et al: Clinical, enzymatic, and molecular
genetic characterization of a biochemical variant
type of argininosuccinic aciduria: Prenatal and
postnatal diagnosis in five unrelated families. J
Inherit Metab Dis 25:399, 2002 [PMID: 12408190]
47. Patel HP, Unis ME: Pili torti in association with
citrullinemia. J Am Acad Dermatol 12:203, 1985
[PMID: 3973120]
48. Potter MA et al: Pregnancy in a healthy woman
with untreated citrullinemia. Am J Med Genet
129:77, 2004 [PMID: 15266621]
49. Phornphutkul C et al: Natural history of alkaptonuria.
N Engl J Med 347:2111, 2002 [PMID:
12501223]
50. Itin P et al: Hereditary metabolic disorders. In:
Pediatric Dermatology, 3rd edition, edited by LA
Schachner, RC Hansen. Edinburgh, Mosby, 2003,
p. 350
51. Beltran-Valero de Bernabe D et al: Mutational
analysis of the HGO gene in Finnish alkaptonuria
patients. J Med Genet 36:922, 1999
Copyright© McGraw-Hill Companies, Inc. All rights reserved.

Chapter 131: Cutaneous Changes in Errors of Amino Acid Metabolism 767
52. Zatkova A et al: High frequency of alkaptonuria in
Slovakia: Evidence for the appearance of multiple
mutations in HGO involving different mutational
hot spots. Am J Hum Genet 67:1333, 2000 [PMID:
11017803]
53. Zatkova A et al: Novel mutations in the homogentisate-1,2-dioxygenase
gene identified in Slovak
patients with alkaptonuria. J Med Genet 37:539,
2000 [PMID: 10970188]
54. Fernandez-Canon JM et al: The molecular basis
of alkaptonuria. Nat Genet 14:19, 1996 [PMID:
8782815]
55. Zannoni VG, Lomtevas N, Goldfinger S: Oxidation
of homogentisic acid to ochronotic pigment in
connective tissue. Biochim Biophys Acta 177:94,
1969 [PMID: 4976426]
56. Kress W et al: The genetic defect of the alkaptonuric
mouse (aku). Mamm Genome 10:68, 1999
[PMID: 9892737]
57. Blivaiss BB et al: Experimental ochronosis. Induction
in rats by long-term feeding with L-tyrosine.
Arch Pathol Lab Med 82:45, 1966 [PMID: 5938449]
58. Murray JC, Lindberg KA, Pinnell SR: In vitro
inhibition of chick embryo lysyl hydroxylase by
homogentisic acid. A proposed connective tissue
defect in alkaptonuria. J Clin Invest 59:1071, 1977
[PMID: 405402]
59. Findlay GH: Ochronosis. Clin Dermatol 7:28, 1989
[PMID: 2667739]
60. Quarterman MJ et al: Photodistributed hereditary
ochronosis. Arch Dermatol 128:1657, 1992 [PMID:
1456769]
61. Gutzmer R et al: Alkaptonuric ochronosis: Report
of two affected brothers. J Am Acad Dermatol
37:305, 1997 [PMID: 9270533]
62. Liu W, Prayson RA: Dura mater involvement in
ochronosis (alkaptonuria). Arch Pathol Lab Med
125:961, 2001
63. Cheskes J, Buettner H: Ocular manifestations
of alkaptonuric ochronosis. Arch Ophthalmol
118:724, 2000 [PMID: 10815172]
64. Gonul M et al: Pigmented coalescing papules on
the dorsa of the hands: Pigmented colloid milium
associated with exogenous ochronosis. J Dermatol
33:287, 2006 [PMID: 16674796]
65. Vijaikumar M, et al: Alkaptonuric ochronosis presenting
as palmoplantar pigmentation. Clin Exp
Dermatol 25:305, 2000 [PMID: 10971492]
66. Bongiorno MR, Arico M: Exogenous ochronosis
and striae atrophicae following the use of bleaching
creams. Int J Dermatol 44:112, 2005 [PMID:
15689207]
67. Fisher AA, Davis MW: Alkaptonuric ochronosis
with aortic valve and joint replacements and
femoral fracture: A case report and literature review.
Clin Med Res 2:209, 2004 [PMID: 15931360]
68. Butany JW et al: Ochronosis and aortic valve stenosis.
J Card Surg 21:182, 2006 [PMID: 16492283]
69. Attwood HD, Clifton S, Mitchell RE: A histological,
histochemical and ultrastructural study of
dermal ochronosis. Pathology 3:115, 1971 [PMID:
4255323]
70. Gaines JJ Jr, Tom GD, Khankhanian N: An ultrastructural
and light microscopic study of the
synovium in ochronotic arthropathy. Hum Pathol
18:1160, 1987 [PMID: 3679190]
71. Findlay GH, Morrison JG, Simson IW: Exogenous
ochronosis and pigmented colloid milium from
hydroquinone bleaching creams. Br J Dermatol
93:613, 1975 [PMID: 1220808]
72. Hardwick N et al: Exogenous ochronosis: An epidemiological
study. Br J Dermatol 120:229, 1989
[PMID: 2923796]
73. Hoshaw RA, Zimmerman KG, Menter A: Ochronosislike
pigmentation from hydroquinone bleaching
creams in American blacks. Arch Dermatol
121:105, 1985 [PMID: 3966811]
74. Tidman MJ, Horton JJ, MacDonald DM: Hydroquinone-induced
ochronosis—Light and electronmicroscopic
features. Clin Exp Dermatol 11:224,
1986 [PMID: 3742865]
75. Dupré A et al: Idiopathic pigmentation of the
hands. Professional exogenous ochronosis? A
new entity? Arch Dermatol Res 266:1, 1979
76. Wolff JA et al: Effects of ascorbic acid in alkaptonuria:
Alterations in benzoquinone acetic acid and
an ontogenic effect in infancy. Pediatr Res 26:140,
1989 [PMID: 2771520]
77. Mayatepek E et al: Effects of ascorbic acid and
low-protein diet in alkaptonuria. Eur J Pediatr
157:867, 1998 [PMID: 9809834]
78. Suzuki Y et al: A novel therapeutic trial of homogentisic
aciduria in a murine model of alkaptonuria.
J Hum Genet 44:79, 1999 [PMID: 10083729]
79. Diven DG et al: Hydroquinone-induced localized
exogenous ochronosis treated with dermabrasion
and CO2 laser. J Dermatol Surg Oncol 16:1018,
1990 [PMID: 2246407]
Copyright© McGraw-Hill Companies, Inc. All rights reserved.

768 Chapter 131: Cutaneous Changes in Errors of Amino Acid Metabolism
Copyright© McGraw-Hill Companies, Inc. All rights reserved.