Close
New

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

 

Dermatologic Manifestations of Menkes Kinky Hair Disease Differential Diagnoses

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

Diagnostic Considerations

Child abuse (based on skeletal radiographic findings)

Argininosuccinic aciduria

Björnstad syndrome

Crandall syndrome

Salti-Salem syndrome

Tay syndrome

Conradi-Hünermann chondrodysplasia punctata

Bazex syndrome

Citrullinemia

Hypohidrotic ectodermal dysplasia

Ankyloblepharon-ectodermal defects - Cleft lip and/or palate

Salamon syndrome

Arthrogryposis and ectodermal dysplasia

Ectodermal dysplasia with syndactyly

Tricho-odontonychial dysplasia with pili torti

Pili torti and enamel hypoplasia

Differential Diagnoses

 
 
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.