Showing papers on "Incontinentia pigmenti published in 1977"
TL;DR: Chromosome analysis revealed a Klinefelter's syndrome 47,XXY and these findings are compatible with the hypothesis of dominant sexlinked genes carried on the X-chromosome in this disease.
Abstract: We report a newborn with incontinentia pigmenti Bloch-Sulzberger and male phenotype. Chromosome analysis revealed a Klinefelter's syndrome 47,XXY. These findings are compatible with the hypothesis of dominant sexlinked genes carried on the X-chromosome in this disease.
37 citations
TL;DR: Studies indicate a wide spectrum of ocular and systemic abnormalities occur that are presumably associated with the chromosome error.
24 citations
TL;DR: The neuropathological examination revealed signs of a destructive process which had occurred in the perinatal period: ulegyria, cavities of white matter and patchy scar softening of the cerebellar cortex, and a diffuse inflammatory process involving the pia-arachnoid and brain tissue.
Abstract: Report of a case of Incontinentia pigmenti (IP) of the Bloch-Sulzberger type, with neurological features, in a 3 month-old deceased infant. The neuropathological examination revealed signs of a destructive process which had occurred in the perinatal period: ulegyria, cavities of white matter and patchy scar softening of the cerebellar cortex. In addition, there was a diffuse inflammatory process involving the pia-arachnoid and brain tissue: perivascular cuffs of lymphocytes, histiocytes and eosinophilic polymorphs, and mononuclear nodules. No prenatal malformations or vascular lesions were found. These findings are discussed in the light of both the relevant literature on neurological abnormalities in IP and the only already reported neuropathological examination by O'Doherty and Norman (1968). Two main hypotheses might account for the frequency of neurological disturbances in IP, 1. a peculiar sensitivity of the brain to anoxia and/or ischemia: 2. its involvement by the specific inflammatory process which occurs both in the skin as other tissues in this genetically determined disease (Perie et al., 1976).
20 citations
TL;DR: In this paper, a case of Incontinentia pigmenti (IP) of the Bloch-Sulzberger type, with neurological features, in a 3 month-old deceased infant was reported.
Abstract: Report of a case of Incontinentia pigmenti (IP) of the Bloch-Sulzberger type, with neurological features, in a 3 month-old deceased infant. The neuropathological examination revealed signs of a destructive process which had occurred in the perinatal period: ulegyria, cavities of white matter and patchy scar softening of the cerebellar cortex. In addition, there was a diffuse inflammatory process involving the pia-arachnoid and brain tissue: perivascular cuffs of lymphocytes, histiocytes and eosinophilic polymorphs, and mononuclear nodules. No prenatal malformations or vascular lesions were found. These findings are discussed in the light of both the relevant literature on neurological abnormalities in IP and the only already reported neuropathological examination by O'Doherty and Norman (1968). Two main hypotheses might account for the frequency of neurological disturbances in IP, 1. a peculiar sensitivity of the brain to anoxia and/or ischemia; 2. its involvement by the specific inflammatory process which occurs both in the skin as other tissues in this genetically determined disease (Perie et al., 1976).
9 citations
Journal Article•
TL;DR: Erythema neonatorum is the most common exanthematous eruption in neonates, which is always associated with an eosinophilic infiltration of the skin.
Abstract: Erythema neonatorum is the most common exanthematous eruption in neonates, which is always associated with an eosinophilic infiltration of the skin. Erythema neonatorum can be present at birth. It is of great importance in the differential diagnosis of pustular eruptions in newborns due to virus or bacteria, of miliaria pustulosa, and of incontinentia pigmenti.
6 citations
TL;DR: The clinical and histopathologic aspects, with emphasis on the role of pigment in this disease, were described and a 2-year-old girl, had had brown spots on her body at birth, as well as moist, red lesions on the thighs which subsequently healed with brown pigmentation.
Abstract: In 1925, at a session of the Swiss dermatological society, Bruno Bloch reported a patient with a peculiar pigmentation, apparently never previously described.1 Because of the singular features of this pigmentation, Sulzberger, an associate of Bloch's, published a detailed discussion of the case in 1928, citing other reports of this entity. In this article,^ the clinical and histopathologic aspects, with emphasis on the role of pigment in this disease, were described. A iy2-year-old girl, had had brown spots on her body at birth, as well as moist, red lesions on the thighs which subsequently healed with brown pigmentation. Abnormal changes of the skin consisted of peculiar hyperpigmented areas involving the trunk and right lower extremities, bizarre both in their shape and arrangement. Some looked like brown mortar spray with irregular outer contours, others extended from a large central spot in linear, spindle-shaped branches which dissolved or joined with adjoining streaks to form net-like figures. Thus an irregular, arbitrary arrangement was formed reminiscent of a marmonized or sprayed wall. The pigmentation did not follow vessel, nerve or metameric distribution. The efflores-
3 citations
01 Jan 1977
TL;DR: This chapter discusses systemic inherited disorders with dental involvement, which includes acroosteolysis, amelocerebrohypohidrosis syndrome, cryptodontic brachymetacarpalia, hypodontia and nail dysgenesis, hypophosphatasia, hypoplastic-hypocalcified enamel, onycholysis and pseudo-pseudohypoparathyroidism.
Abstract: This chapter discusses systemic inherited disorders with dental involvement. It discusses acroosteolysis, amelocerebrohypohidrosis syndrome, cryptodontic brachymetacarpalia, hypodontia and nail dysgenesis, hypophosphatasia, hypophosphatemic vitamin D-resistant rickets, hypoplastic-hypocalcified enamel, onycholysis, functionali hypohidrosis, incontinentia pigmenti, oculodentoosseous dysplasia, otodental syndrome, pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism, and rothmund−thomson syndrome among others. Acroosteolysis, which has an autosomal dominant mode of inheritance, is characterized by short stature, disintegration of the terminal phalanges of fingers and toes, abnormal skull shape, and premature loss of teeth. The Amelocerebrohypohidrosis syndrome is characterized by the following features: (1) severe seizures, (2) progressive mental retardation, (3) muscular spasticity, (4) hypohidrosis, and (5) enamel hypoplasia. There is marked hypoplasia of enamel, resulting in complete absence, except for small zones of thin enamel at cervix of the tooth crowns. The enamel defect is generalized and involves all teeth in both primary and secondary dentitions.
3 citations
Journal Article•
TL;DR: An increase in structural chromosome aberrations of the chromatid type was observed and Chromosomal breakage was also increased in apparently healthy family members.
Abstract: Two cases of incontinentia pigmenti in a mother and her daughter are reported. An increase in structural chromosome aberrations of the chromatid type was observed, as already described by other authors. The aberrations rate in the same individual varied from culture to culture. Chromosomal breakage was also increased in apparently healthy family members.
2 citations
Journal Article•
TL;DR: These 9 cases confirm that tuberose sclerosis, von Recklinghausen's neurofibromatosis, incontinentia pigmenti, linear warty sebaceous naevus and alopecic naevu resulting in a woolly naevUS of the scalp may be complicated by flexion spasms with hypsarhythmia.
Abstract: These 9 cases confirm that tuberose sclerosis, von Recklinghausen's neurofibromatosis, incontinentia pigmenti, linear warty sebaceous naevus and alopecic naevus resulting in a woolly naevus of the scalp may be complicated by flexion spasms with hypsarhythmia. Early diagnosis of hypsarhythmia makes possible specific treatment with ACTH or hydrocortisone.
2 citations
Journal Article•
1 citations