1995
DOI: 10.1159/000246548
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The CHILD Nevus: A Distinct Skin Disorder

Abstract: Background: The CHILD syndrome is characterized by an ichthyosiform and inflammatory nevus showing a strikingly unilateral arrangement. No particular name has so far been given to this nevus, which is why this skin disorder has been described under various inappropriate terms such as epidermal nevus, inflammatory linear verrucous epidermal nevus (ILVEN), unilateral ichthyosiform erythroderma, unilateral ichthyosis or verruciform xanthoma. Objective: In order to avoid such confusion and to make it easier for cl… Show more

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Cited by 111 publications
(76 citation statements)
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References 22 publications
(26 reference statements)
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“…The function of NSDHL as a C-4 sterol dehydrogenase was substantiated by the accumulation of 4-methyl and 4,4-dimethyl sterol intermediates in tissue samples and cultured skin fi broblasts from heterozygous Bpa/Str mutant females ( 271 ). In addition, the mouse NSDHL protein can rescue the conditional lethality of S. cerevisiae that lack the ortholreduction defects ( 245,257,258 ) ( Fig. 6E,F ).…”
Section: Gene Identifi Cation and Molecular Biologymentioning
confidence: 91%
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“…The function of NSDHL as a C-4 sterol dehydrogenase was substantiated by the accumulation of 4-methyl and 4,4-dimethyl sterol intermediates in tissue samples and cultured skin fi broblasts from heterozygous Bpa/Str mutant females ( 271 ). In addition, the mouse NSDHL protein can rescue the conditional lethality of S. cerevisiae that lack the ortholreduction defects ( 245,257,258 ) ( Fig. 6E,F ).…”
Section: Gene Identifi Cation and Molecular Biologymentioning
confidence: 91%
“…The skin lesion(s) typically affect one side of the body, with a sharp line of demarcation at the midline, and they may be extensive. Happle et al ( 245 ) have argued that the characteristic lesion of CHILD Syndrome is a distinct type of infl ammatory nevus with an erythematous base and yellow, waxy scales, although some regions may have a more "warty" or verrucous appearance. The lesions are present at birth or within the fi rst few months of life.…”
Section: Gene Identifi Cation and Molecular Biologymentioning
confidence: 99%
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“…The clinical phenotype of CHILD syndrome shows some features overlapping with CDPX2 such as stippled epiphyses, asymmetric bone lesions and X-linked dominant, male-lethal inheritance, but the characteristic and unique morphology of the CHILD nevus, the ipsilateral dysplasia of limbs and the presence of other anomalies are specific for CHILD syndrome [1, 15, 16]. We did not find an involvement of the EBP gene in our patient.…”
Section: Discussionmentioning
confidence: 55%
“…El-ayak distal falanksta çilek-benzeri lezyonlar patognomiktir. 13,16,26,27 İpsilateral ekstremite hipoplazisi veya agenezisi eşlik eder. İpsilateral viseral, santral sinir sistemi anomalisi görülebilmektedir (beyin, akciğer, tiroid hipoplazisi).…”
Section: Göz (Koristoma Katarakt)unclassified