Incontinentia Pigmenti

Carney, Robert G.

doi:10.1001/archderm.1970.04000080029006

Cited by 42 publications

(5 citation statements)

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“…[693][694][695][696] The ocular and neurological changes are sometimes the dominant clinical features of the disorder. [693][694][695][696] The ocular and neurological changes are sometimes the dominant clinical features of the disorder.…”

Section: Incontinentia Pigmentimentioning

confidence: 99%

Disorders of pigmentation

Weedon

2010

Weedon's Skin Pathology

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Section: Incontinentia Pigmentimentioning

confidence: 99%

Disorders of pigmentation

Weedon

2010

Weedon's Skin Pathology

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“…However, it is sure that it is no X-chromosomal mode, since HI may be contracted by both sexes and the disease may also be transmitted from the father to the son [5], For this reason it is likely to be an autosomal dominant genetic trait with variable penetration and expressivity [5], implying that there is a clear genetic dis tinction between HI and incontinentia pigmenti Bloch-Sulzberger (X-chromosomal mode) [24] despite some existing similarities [25,26]. HI familial occurrence in more than one gener ation has so far been described 10 times [5,10].…”

Section: Discussionmentioning

confidence: 99%

Ocular Symptomatology in Familial Hypomelanosis Ito

Amon¹,

Menapace²,

Kirnbauer³

1990

Ophthalmologica

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Hypomelanosis Ito (HI) is a very rare neurocutaneous syndrome which is often associated with cutaneous, cerebral, musculoskeletal and ocular abnormalities. The paper deals with changes in familial HI (mother and daughter) with special consideration of ocular symptomatology; it also presents a review about the relevant literature published to date – not documented with photographs with one exception. The argument is raised whether all ocular changes described in HI actually belong to the syndrome or are partly a mere coincidence. There is also a description of a cataract which has never been observed in cases of HI. Electrophysiological tests (electroretinography, electrooculography, visual-evoked potential) which to date have not been carried out for HI, are presented and their results reported. Mention is also made of the hereditary factor which has so far been questioned; it is assumed that it is autosomal dominant in character. In this context, the results of a chromosome analysis in both mother and daughter are presented.

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“…l ) , as "incontinentia pigmenti sine incontinentia pigmenti", since no data are available which support the existence of an exclusively extradermatological form of the disease. For 26 patients reported by Carney & Carney (1970), only 10 mothers had at least some clinical manifestation of the same disease. This fact, together with other reports on healthy mothers (Morgan 1971), implies a large number of dc n o w cases, or else a most variable penetrance of the affected gene.…”

Section: Discussionmentioning

confidence: 99%