eMedicine Specialties > Dermatology > Pediatric Diseases

Menkes Kinky Hair Disease: Differential Diagnoses & Workup

Author: Suguru Imaeda, MD, Chief of Dermatology, Yale University Health Services; Chief of Dermatology, West Haven Veterans Affairs Medical Center; Assistant Professor, Department of Dermatology, Yale University School of Medicine
Contributor Information and Disclosures

Updated: Dec 3, 2007

Differential Diagnoses

Ectodermal Dysplasia

Other Problems to Be Considered

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

Workup

Laboratory Studies

  • The serum copper level is low.
  • The serum ceruloplasmin level is low.
  • 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.
  • 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.8

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.

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.

More on Menkes Kinky Hair Disease

Overview: Menkes Kinky Hair Disease
Differential Diagnoses & Workup: Menkes Kinky Hair Disease
Treatment & Medication: Menkes Kinky Hair Disease
Follow-up: Menkes Kinky Hair Disease
References
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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. May 1962;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. Aug 1972;50(2):188-201. [Medline].

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

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

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

  6. 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].

  7. Donsante A, Tang J, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, 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].

  8. 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].

  9. Lem KE, Brinster LR, Tjurmina O, Lizak M, Lal S, Centeno JA, et al. Safety of intracerebroventricular copper histidine in adult rats. Mol Genet Metab. May 2007;91(1):30-6. [Medline].

  10. 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].

  11. Brownstein JN, Primosch RE. Oral manifestations of Menkes' kinky hair syndrome. J Clin Pediatr Dent. 2001;25(4):317-21. [Medline].

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

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  15. 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].

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

  17. Jayawant S, Halpin S, Wallace S. Menkes kinky hair disease: an unusual case. Eur J Paediatr Neurol. 2000;4(3):131-4. [Medline].

  18. 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].

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  21. Martins C, Gonçalves C, Moreno A, Gonçalves 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].

  22. Munakata M, Sakamoto O, Kitamura T, Ishitobi M, Yokoyama H, Haginoya K, 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].

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  24. 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].

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

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Further Reading

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Keywords

steely hair syndrome, trichopoliodystrophy, copper metabolism, copper deficiency, pili torti, hair-shaft abnormality

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Contributor Information and Disclosures

Author

Suguru Imaeda, MD, Chief of Dermatology, Yale University Health Services; Chief of Dermatology, West Haven Veterans Affairs Medical Center; 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, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

Medical Editor

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.

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head of Dermatology, Professor of Medicine, Professor of Pediatrics, Professor of Pathology, Professor of Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System
William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology
Disclosure: elsevier Royalty Other

 
 
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