Abstract | BACKGROUND: PATIENTS AND METHODS: The re-examined case concerned a girl with collodion baby syndrome presenting pilar dystrophy. At 2 years, an inaccurate diagnosis of Netherton syndrome was made despite the fact that the pilar dystrophy involved trichorrhexis nodosis with ichthyosis vulgaris. At 8 years, 13 years and 17 years, the diagnosis of trichothiodystrophy was posited in the presence of tiger-striping of the hair visible in polarised light together with low capillary cystine at only 51 p. 100 of the normal level. The phenotype obtained comprised ichthyosis, pilar dystrophy, low IQ and stunted growth of at least two standard deviations despite tall parents. There was no evidence of photosensitivity. DISCUSSION:
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Authors | M Larrègue, G Guillet |
Journal | Annales de dermatologie et de venereologie
(Ann Dermatol Venereol)
Vol. 134
Issue 3 Pt 1
Pg. 245-8
(Mar 2007)
ISSN: 0151-9638 [Print] France |
Vernacular Title | Bébé collodion révélant une trichothiodystrophie confondue avec un syndrome de Netherton: réévaluation d'une erreur de diagnostic. |
PMID | 17389849
(Publication Type: Case Reports, English Abstract, Journal Article)
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Topics |
- Abnormalities, Multiple
- Child
- Diagnostic Errors
- Female
- Humans
- Ichthyosiform Erythroderma, Congenital
(diagnosis)
- Ichthyosis
(diagnosis)
- Infant, Newborn
- Neurocutaneous Syndromes
(diagnosis)
- Skin Abnormalities
(diagnosis)
- Skin Diseases, Vesiculobullous
(diagnosis)
- Syndrome
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