Publication: Poikiloderma with neutropenia: Report of three cases including one with calcinosis cutis
Issued Date
2012-07-01
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ISSN
15251470
07368046
07368046
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2-s2.0-84863473208
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Mahidol University
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SCOPUS
Bibliographic Citation
Pediatric Dermatology. Vol.29, No.4 (2012), 463-472
Suggested Citation
Rattanavalai Chantorn, Tor Shwayder Poikiloderma with neutropenia: Report of three cases including one with calcinosis cutis. Pediatric Dermatology. Vol.29, No.4 (2012), 463-472. doi:10.1111/j.1525-1470.2011.01513.x Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/14745
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Title
Poikiloderma with neutropenia: Report of three cases including one with calcinosis cutis
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Abstract
Poikiloderma with neutropenia (PN), Clericuzio type (OMIM #604173) is a new, unique genodermatosis first described by Clericuzio et al (Am J Med Genet A, 2011, 155, 337) in Navajo Indian population. This disease is characterized by poikiloderma that usually develops in the first year of life and is associated with nail abnormality, palmoplantar hyperkeratosis, chronic neutropenia, and recurrent infections. The rash typically starts from the extremities and spreads centripetally to involve the trunk, face, and ears. Recently, a homozygous mutation in the C16orf57 gene on chromosome 16q13 was identified as a strong candidate as the gene responsible for PN. We report three cases of PN whose clinical presentations, laboratory investigations, and C16orf57 mutation support the diagnosis of PN. One child has developed multiple painful calcinosis cutis lesions. Early-onset poikiloderma should prompt a complete blood count as a screening test. © 2011 Wiley Periodicals, Inc.