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Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome

Liakou, Aikaterini I. ; Esteves de Carvalho, André V. ; Nazarenko, Lujdmila P.

Journal of dermatology, 2014-05, Vol.41 (5), p.371-376 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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Título:
Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Autor: Liakou, Aikaterini I. ; Esteves de Carvalho, André V. ; Nazarenko, Lujdmila P.
Assuntos: 18p monosomy ; Abnormalities, Multiple - genetics ; Abnormalities, Multiple - pathology ; Adolescent ; Adult ; Chromosome Deletion ; Chromosome Disorders - genetics ; Chromosome Disorders - pathology ; Chromosomes, Human, Pair 18 - genetics ; Darier Disease - genetics ; Darier Disease - pathology ; Diagnosis, Differential ; Eyebrows - abnormalities ; Eyebrows - pathology ; Female ; genodermatosis ; hair follicle ; Humans ; keratosis pilaris ; Laminin - deficiency ; Laminin - genetics ; Male ; Syndrome ; ulerythema ; Young Adult ; Zouboulis syndrome
É parte de: Journal of dermatology, 2014-05, Vol.41 (5), p.371-376
Notas: ArticleID:JDE12442
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Descrição: Keratosis pilaris and ulerythema ophryogenes (keratosis pilaris atrophicans faciei) are part of a group of hereditary disorders of hair follicle keratinization involving follicular inflammation and subsequent atrophy. Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. This trias was first described in a patient by Zouboulis et al. (1994) and has been reported by different authors in four additional patients since then. We have reviewed the five almost identical cases that have been reported in 20 years and we suggest the existence of a new rare syndrome characterized by the trias keratosis pilaris, ulerythema ophryogenes and monosomy 18p. Recognition of the syndrome could assist in early diagnosis of monosomy 18p in these patients.
Editor: England: Blackwell Publishing Ltd
Idioma: Inglês

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Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome

Liakou, Aikaterini I. ; Esteves de Carvalho, André V. ; Nazarenko, Lujdmila P.

England: Blackwell Publishing Ltd

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