Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Dermatologic Manifestations of Menkes Kinky Hair Disease Workup

  • Author: Suguru Imaeda, MD; Chief Editor: William D James, MD  more...
 
Updated: Sep 26, 2014
 

Laboratory Studies

The serum copper level is low in patients with Menkes kinky hair syndrome. Copper accumulation may be observed in cultured cells (useful mainly for prenatal diagnosis). Copper levels in the intestines, kidney, and skin fibroblasts are within the reference range or high. Copper levels in the liver, brain, and endothelial cells are low.

The serum ceruloplasmin level is low.

Urine homovanillic/vanillylmandelic acid ratio of greater than 4 is strongly suggestive of Menkes disease and can be used as a screening method, especially in early infancy. Impaired activity of dopamine beta-hydroxylase, a copper-dependent enzyme, leads to increased homovanillic acid levels.[18]

Urinalysis can be performed to investigate for hypercalciuria, albuminuria, aminoaciduria, and a high rate of beta2 microglobulin excretion.[19]

Next

Imaging Studies

Radiography of the long bones and skull may be performed. Angiography or magnetic resonance angiography may be performed. Findings include metaphyseal widening of the femur and ribs, tibial and femoral spurs, and wormian bones of the skull.

Previous
Next

Histologic Findings

Light microscopy shows hairs with pili torti that twist along the longitudinal axis. The twisting of the hair fiber creates the illusion of wide and narrow areas along the hair shaft similar to the nodes of monilethrix. Trichorrhexis nodosa also is commonly seen.

Electron microscopy of the skin shows that the diameter of dermal collagen fibrils is decreased and that sparse, amorphous elastin fibers are present.

Previous
 
 
Contributor Information and Disclosures
Author

Suguru Imaeda, MD Chief of Dermatology, Yale University Health Services; Chief of Dermatology, Veterans Affairs Connecticut Healthcare System; Assistant Professor, Department of Dermatology, Yale University School of Medicine

Suguru Imaeda, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Connecticut State Medical Society, Sigma Xi, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Acknowledgements

Mark A Crowe, MD Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine

Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society

Disclosure: Nothing to disclose.

References
  1. 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. 1962 May. 29:764-79. [Medline].

  2. 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. 1972 Aug. 50(2):188-201. [Medline].

  3. Danks DM, Campbell PE, Walker-Smith J, et al. Menkes' kinky-hair syndrome. Lancet. 1972 May 20. 1(7760):1100-2. [Medline].

  4. Møller LB, Hicks JD, Holmes CS, Goldstein DS, Brendl C, Huppke P, et al. Diagnosis of copper transport disorders. Curr Protoc Hum Genet. 2011 Jul. Chapter 17:Unit17.9. [Medline]. [Full Text].

  5. Price DJ, Ravindranath T, Kaler SG. Internal jugular phlebectasia in Menkes disease. Int J Pediatr Otorhinolaryngol. 2007 Jul. 71(7):1145-8. [Medline].

  6. Oshio T, Hino M, Kirino A, Matsumura C, Fukuda K. Urologic abnormalities in Menkes' kinky hair disease: report of three cases. J Pediatr Surg. 1997 May. 32(5):782-4. [Medline].

  7. Cosimo QC, Daniela L, Elsa B, Carlo DV, Giuseppe F. Kinky hair, kinky vessels, and bladder diverticula in Menkes disease. J Neuroimaging. 2011 Apr. 21(2):e114-6. [Medline].

  8. Balestracci A, Caletti MG, Missoni M. A case of Menkes' disease with nephrocalcinosis and chronic renal failure. Pediatr Nephrol. 2009 Jun. 24(6):1255-6. [Medline].

  9. Spitz JL. Genodermatoses. Baltimore, Md: Williams & Wilkins; 1996. Vol 1: 230-1.

  10. Harris ED, Qian Y, Reddy MC. Genes regulating copper metabolism. Mol Cell Biochem. 1998 Nov. 188(1-2):57-62. [Medline].

  11. 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. 2005 Aug. 85(4):291-300. [Medline].

  12. La Fontaine S, Mercer JF. Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis. Arch Biochem Biophys. 2007 Jul 15. 463(2):149-67. [Medline].

  13. Madsen E, Gitlin JD. Copper and iron disorders of the brain. Annu Rev Neurosci. 2007. 30:317-37. [Medline].

  14. Madsen E, Gitlin JD. Copper deficiency. Curr Opin Gastroenterol. 2007 Mar. 23(2):187-92. [Medline].

  15. 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. 2011 Jul. 26(7):951-3. [Medline]. [Full Text].

  16. 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. 2007 Aug. 44(8):492-7. [Medline].

  17. Bertini I, Rosato A. Menkes disease. Cell Mol Life Sci. 2008 Jan. 65(1):89-91. [Medline].

  18. 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].

  19. Ozawa H, Kodama H, Kawaguchi H, Mochizuki T, Kobayashi M, Igarashi T. Renal function in patients with Menkes disease. Eur J Pediatr. 2003 Jan. 162(1):51-2. [Medline].

  20. Sheela SR, Latha M, Liu P, Lem K, Kaler SG. Copper-replacement treatment for symptomatic Menkes disease: ethical considerations. Clin Genet. 2005 Sep. 68(3):278-83. [Medline].

  21. Hoppe-Tichy T, Nguyen TH, Hentze BW, Lorke M. [Manufacturing and stability of copper-histidine solution for treatment of Menkes' Kinky Hair Syndrome]. Pharmazie. 2005 Mar. 60(3):205-7. [Medline].

  22. 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. 2005 Jun. 27(4):297-300. [Medline].

  23. Lem KE, Brinster LR, Tjurmina O, et al. Safety of intracerebroventricular copper histidine in adult rats. Mol Genet Metab. 2007 May. 91(1):30-6. [Medline]. [Full Text].

  24. Kaler SG, Holmes CS, Goldstein DS, et al. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med. 2008 Feb 7. 358(6):605-14. [Medline].

  25. Kazim R, Weisberg R, Sun LS. Upper airway obstruction and Menkes syndrome. Anesth Analg. 1993 Oct. 77(4):856-7. [Medline].

  26. Tobias JD. Anaesthetic considerations in the child with Menkes' syndrome. Can J Anaesth. 1992 Sep. 39(7):712-5. [Medline].

  27. Sugimoto M, Shindo K, Shingu K, Mori K. [Anesthetic management of an infant with Menkes disease]. Masui. 1993 Sep. 42(9):1351-4. [Medline].

  28. 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. 2005 Feb. 47(1):1-6. [Medline].

  29. Freedberg IM, Eisen AZ, Wolff K. Fitzpatrick's Dermatology in General Medicine. New York, NY: McGraw-Hill; 1999. 732, 2141.

  30. Hurwitz S. Clinical Pediatric Dermatology: A Textbook of Skin Disorders of Childhood and Adolescence. 2nd ed. Philadelphia, Pa: WB Saunders; 1993. 498-9.

  31. Sybert VP. Genetic Skin Disorders. 1st ed. New York, NY: Oxford University Press; 1997. 195-8.

 
Previous
Next
 
Classic menkes kinky hair disease in an 8-month-old male infant.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.