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2011, Number 4

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Med Cutan Iber Lat Am 2011; 39 (4)

Association of true congenital leuconychia and deafness: Bart-Pumphrey syndrome?

Krause BK, Muri MI, Azulay DR
Full text How to cite this article

Language: Portugu?s
References: 10
Page: 193-196
PDF size: 1016.12 Kb.


Key words:

Nail, pigmentation, deafness, immunohistochemistry, congenital diseases.

Text Extraction

Changes in color of the nail plate is frequent in dermatology, among them leukonychia it’s a real diagnostic challenge for its diversity of types. A case with true leukonychia associated with congenital deafness affecting two sisters is reported. The authors suggest the diagnosis of incomplete variant of Bart-Pumphrey syndrome. This report is significant because the rarity of the condition, we present by immunohistochemistry the changes found in true leukonychia.


REFERENCES

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  8. Bart RS, Pumphrey RE. Knuckle pads, leukonichia and deafness. N Engl J Med 1967; 276: 202-7.

  9. Richard G, Brown N, Ishida-Yamamoto A, Kol A. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Phumprey Syndrome is caused by a novel missense mutation in GJB2. J Inv Dermatol 2004; 123: 856-63.

  10. Cavalcante LIS, Holanda EM, Almeida TLP, Accioly-Filho JW. Ceratodermia mutilante de Vohwinkel: relato de três casos em uma família. An Bras Dermatol 2003; 78 (3): 311-8.




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C?MO CITAR (Vancouver)

Med Cutan Iber Lat Am. 2011;39