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.
journal_name
Pediatr Dermatoljournal_title
Pediatric dermatologyauthors
Chantorn R,Shwayder Tdoi
10.1111/j.1525-1470.2011.01513.xsubject
Has Abstractpub_date
2012-07-01 00:00:00pages
463-72issue
4eissn
0736-8046issn
1525-1470journal_volume
29pub_type
杂志文章abstract::Familial hyperpigmentation, or melanosis universalis hereditaria, is a rare hyperpigmentary disorder with onset in infancy. Here, we describe monozygotic twins with similar pattern of progressive hyperpigmentation with onset in early neonatal period without any family history. Histopathological examination showed incr...
journal_title:Pediatric dermatology
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journal_title:Pediatric dermatology
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pub_type: 杂志文章,评审
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journal_title:Pediatric dermatology
pub_type: 杂志文章
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journal_title:Pediatric dermatology
pub_type: 杂志文章,评审
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journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.13778
更新日期:2019-05-01 00:00:00
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journal_title:Pediatric dermatology
pub_type: 杂志文章
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journal_title:Pediatric dermatology
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journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2007.00412.x
更新日期:2007-05-01 00:00:00
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journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2008.00803.x
更新日期:2009-03-01 00:00:00
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journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.1994.tb00074.x
更新日期:1994-03-01 00:00:00
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journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2011.01540.x
更新日期:2012-05-01 00:00:00
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journal_title:Pediatric dermatology
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更新日期:2020-05-01 00:00:00
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journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2012.01830.x
更新日期:2013-07-01 00:00:00
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journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.14158
更新日期:2020-07-01 00:00:00
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journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2008.00774.x
更新日期:2009-01-01 00:00:00
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journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2010.01353.x
更新日期:2011-01-01 00:00:00
abstract::In order to assess the clinical characteristics and impact of group A streptococcal infection in children with atopic dermatitis, a retrospective review was performed in children diagnosed with atopic dermatitis who had a skin culture. Culture results and clinical characteristics of those with group A streptococcus we...
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pub_type: 杂志文章,多中心研究
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更新日期:2011-05-01 00:00:00
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journal_title:Pediatric dermatology
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pub_type: 杂志文章,多中心研究
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journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.14196
更新日期:2020-05-01 00:00:00
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journal_title:Pediatric dermatology
pub_type:
doi:10.1111/pde.14473
更新日期:2020-12-04 00:00:00
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journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2007.00547.x
更新日期:2007-11-01 00:00:00
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journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1046/j.1525-1470.2003.20218.x
更新日期:2003-03-01 00:00:00
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journal_title:Pediatric dermatology
pub_type: 杂志文章
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更新日期:1993-03-01 00:00:00
abstract::Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is an autosomal dominant inherited blistering skin disease characterized by nonscarring blistering and reticulated hyperpigmentation. It is most commonly due to a heterozygous point mutation, P25L, in the nonhelical V1 domain of keratin 5 (KRT5). Here we...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/pde.12206
更新日期:2013-09-01 00:00:00
abstract::A 14-year-old boy presented with extensive capillaritis. Narrow-band ultraviolet B was administered on a thrice-weekly schedule followed by once-a-week maintenance. A favorable response to treatment was seen without any side effects. ...
journal_title:Pediatric dermatology
pub_type: 杂志文章
doi:10.1111/j.1525-1470.2012.01806.x
更新日期:2013-11-01 00:00:00