1972
DOI: 10.1001/archderm.105.3.424
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Incontinentia pigmenti achromians. Multiple cases within a family

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Cited by 40 publications
(31 citation statements)
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“…Ruiz et al(1992) have proposed certain criteria for the diagnosis of this disease. 1) Congenital or early acquired non-hereditary cutaneous hypopigmentation in linear streaks or patches involving more than two body segments is the sine qua non.…”
Section: Discussionmentioning
confidence: 99%
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“…Ruiz et al(1992) have proposed certain criteria for the diagnosis of this disease. 1) Congenital or early acquired non-hereditary cutaneous hypopigmentation in linear streaks or patches involving more than two body segments is the sine qua non.…”
Section: Discussionmentioning
confidence: 99%
“…Criterion 1 alone or in association with one minor criterion accounts for a presumptive diagnosis. Nervous system alterations are the most frequently associated extra-cutaneous anomalies in the patients (Ruiz et al,1992;Castroviejo,1988). These are characterized by mental and motor retardation which are the most frequent, followed by seizures, micro-cephaly, mental retardation, hypotonia, hyperkinesia, hydrocephaly, ataxia, speech defects, motor retardation, cerebral asymmetry, breath holding, myelo-meningocele, cerebral atrophy, hypertonia, neurosensory deafness, in the order of frequency (Ruiz et al,1992).…”
Section: Discussionmentioning
confidence: 99%
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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]. Thus our paper is the 11th such report.…”
Section: Discussionmentioning
confidence: 99%
“…Since that time, only a little more than 70 cases with HI have been reported [8,9], and only 10 families were afflicted in more than one generation [5,10]. It is for this reason that the possibility of a hereditary factor has not been verified to date, yet an autosomal dominant mode seems very likely [5,[10][11][12]. All these papers were published in the non-ophthalmic literature with the exception of a short commu nication [13].…”
Section: Introductionmentioning
confidence: 99%