Dermatologic Manifestations of Menkes Kinky Hair Disease Follow-up
- Author: Suguru Imaeda, MD; Chief Editor: Dirk M Elston, MD more...
Further Outpatient Care
- Seizure management is the most important aspect of outpatient care in Menkes kinky hair syndrome.
Complications
- Complications of Menkes kinky hair syndrome include seizures and pneumonia.
Prognosis
- The prognosis for Menkes kinky hair syndrome is poor.
- Patients experience rapid, progressive neurologic deterioration.
- Death typically occurs by the time the patient is aged 3 years.
Patient Education
- Genetic counseling is indicated in Menkes kinky hair syndrome.
Menkes JH, Alter M, Steigleder GK, Weakley DR, Sung JH. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics. May 1962;29:764-79. [Medline].
Danks DM, Campbell PE, Stevens BJ, Mayne V, Cartwright E. Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects. Pediatrics. Aug 1972;50(2):188-201. [Medline].
Danks DM, Campbell PE, Walker-Smith J, et al. Menkes' kinky-hair syndrome. Lancet. May 20 1972;1(7760):1100-2. [Medline].
Møller LB, Hicks JD, Holmes CS, Goldstein DS, Brendl C, Huppke P, et al. Diagnosis of copper transport disorders. Curr Protoc Hum Genet. Jul 2011;Chapter 17:Unit17.9. [Medline]. [Full Text].
Price DJ, Ravindranath T, Kaler SG. Internal jugular phlebectasia in Menkes disease. Int J Pediatr Otorhinolaryngol. Jul 2007;71(7):1145-8. [Medline].
Oshio T, Hino M, Kirino A, Matsumura C, Fukuda K. Urologic abnormalities in Menkes' kinky hair disease: report of three cases. J Pediatr Surg. May 1997;32(5):782-4. [Medline].
Cosimo QC, Daniela L, Elsa B, Carlo DV, Giuseppe F. Kinky hair, kinky vessels, and bladder diverticula in Menkes disease. J Neuroimaging. Apr 2011;21(2):e114-6. [Medline].
Balestracci A, Caletti MG, Missoni M. A case of Menkes' disease with nephrocalcinosis and chronic renal failure. Pediatr Nephrol. Jun 2009;24(6):1255-6. [Medline].
Spitz JL. Genodermatoses. Vol 1. Baltimore, Md: Williams & Wilkins; 1996:230-1.
Harris ED, Qian Y, Reddy MC. Genes regulating copper metabolism. Mol Cell Biochem. Nov 1998;188(1-2):57-62. [Medline].
Liu PC, Chen YW, Centeno JA, Quezado M, Lem K, Kaler SG. Downregulation of myelination, energy, and translational genes in Menkes disease brain. Mol Genet Metab. Aug 2005;85(4):291-300. [Medline].
La Fontaine S, Mercer JF. Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis. Arch Biochem Biophys. Jul 15 2007;463(2):149-67. [Medline].
Madsen E, Gitlin JD. Copper and iron disorders of the brain. Annu Rev Neurosci. 2007;30:317-37. [Medline].
Madsen E, Gitlin JD. Copper deficiency. Curr Opin Gastroenterol. Mar 2007;23(2):187-92. [Medline].
Kim YH, Lee R, Yoo HW, Yum MS, Bae SH, Chung SC, et al. Identification of a novel mutation in the ATP7A gene in a Korean patient with Menkes disease. J Korean Med Sci. Jul 2011;26(7):951-3. [Medline]. [Full Text].
Donsante A, Tang J, Godwin SC, et al. Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. J Med Genet. Aug 2007;44(8):492-7. [Medline].
Bertini I, Rosato A. Menkes disease. Cell Mol Life Sci. Jan 2008;65(1):89-91. [Medline].
Matsuo M, Tasaki R, Kodama H, Hamasaki Y. Screening for Menkes disease using the urine HVA/VMA ratio. J Inherit Metab Dis. 2005;28(1):89-93. [Medline].
Ozawa H, Kodama H, Kawaguchi H, Mochizuki T, Kobayashi M, Igarashi T. Renal function in patients with Menkes disease. Eur J Pediatr. Jan 2003;162(1):51-2. [Medline].
Sheela SR, Latha M, Liu P, Lem K, Kaler SG. Copper-replacement treatment for symptomatic Menkes disease: ethical considerations. Clin Genet. Sep 2005;68(3):278-83. [Medline].
Hoppe-Tichy T, Nguyen TH, Hentze BW, Lorke M. [Manufacturing and stability of copper-histidine solution for treatment of Menkes' Kinky Hair Syndrome]. Pharmazie. Mar 2005;60(3):205-7. [Medline].
Munakata M, Sakamoto O, Kitamura T, et al. The effects of copper-histidine therapy on brain metabolism in a patient with Menkes disease: a proton magnetic resonance spectroscopic study. Brain Dev. Jun 2005;27(4):297-300. [Medline].
Lem KE, Brinster LR, Tjurmina O, et al. Safety of intracerebroventricular copper histidine in adult rats. Mol Genet Metab. May 2007;91(1):30-6. [Medline].
Kaler SG, Holmes CS, Goldstein DS, et al. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med. Feb 7 2008;358(6):605-14. [Medline].
Watanabe A, Shimizu N. Identification of three novel mutations in Japanese patients with Menkes disease and mutation screening by denaturing high performance liquid chromatography. Pediatr Int. Feb 2005;47(1):1-6. [Medline].
Kazim R, Weisberg R, Sun LS. Upper airway obstruction and Menkes syndrome. Anesth Analg. Oct 1993;77(4):856-7. [Medline].
Tobias JD. Anaesthetic considerations in the child with Menkes' syndrome. Can J Anaesth. Sep 1992;39(7):712-5. [Medline].
Sugimoto M, Shindo K, Shingu K, Mori K. [Anesthetic management of an infant with Menkes disease]. Masui. Sep 1993;42(9):1351-4. [Medline].
Brownstein JN, Primosch RE. Oral manifestations of Menkes' kinky hair syndrome. J Clin Pediatr Dent. Summer 2001;25(4):317-21. [Medline].
Freedberg IM, Eisen AZ, Wolff K. Fitzpatrick's Dermatology in General Medicine. New York, NY: McGraw-Hill; 1999:732, 2141.
Hart DB. Menkes' syndrome: an updated review. J Am Acad Dermatol. Jul 1983;9(1):145-52. [Medline].
Hurwitz S. Clinical Pediatric Dermatology: A Textbook of Skin Disorders of Childhood and Adolescence. 2nd ed. Philadelphia, Pa: WB Saunders; 1993:498-9.
Jayawant S, Halpin S, Wallace S. Menkes kinky hair disease: an unusual case. Eur J Paediatr Neurol. 2000;4(3):131-4. [Medline].
Martins C, Goncalves C, Moreno A, Goncalves O, Baptista AP, Bairos V. Menkes' kinky hair syndrome: ultrastructural cutaneous alterations of the elastic fibers. Pediatr Dermatol. Sep-Oct 1997;14(5):347-50. [Medline].
Sybert VP. Genetic Skin Disorders. ed. New York, NY: Oxford University Press; 1997:195-8.
Tumer Z, Horn N. Menkes disease: underlying genetic defect and new diagnostic possibilities. J Inherit Metab Dis. Aug 1998;21(5):604-12. [Medline].

