A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram

Kaufman, Lawrence M.

doi:10.1076/opge.19.2.69.2318

Cited by 19 publications

(7 citation statements)

References 20 publications

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“…Extremely high concentrations (millimolar levels) of phytanic acid can be found in some disease states such as the Refsum's disease or Zellweger syndrome, where dysfunction of phytanic acid a-oxidation leads to an accumulation of phytanic acid in human blood and tissues (Steinberg 1995;Verhoeven et al 1998). Interestingly, patients with these disorders displayed similar symptoms to those described for vitamin A deficiency or hypervitaminosis A, such as retinitis pigmentosa and ichthyosis (Kaufman 1998;Stu¨ttgen 1982;Van Soest et al 1999). It was also demonstrated that the precursor phytol is bioactivated to phytanic acid in several species (Hansen et al 1966;Klenk and Kremer 1965;Mize et al 1966;Steinberg et al 1966;Stoffel and Kahlke 1965).…”

Section: Introductionmentioning

confidence: 79%

Potentiation of the teratogenic effects induced by coadministration of retinoic acid or phytanic acid/phytol with synthetic retinoid receptor ligands

Elmazar

Nau

2004

Arch Toxicol

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Previous studies in our laboratory identified retinoid-induced defects that are mediated by RAR-RXR heterodimerization using interaction of synthetic ligands selective for the retinoid receptors RAR and RXR in mice (Elmazar et al. 1997, Toxicol Appl Pharmacol 146:21-28; Elmazar et al. 2001, Toxicol Appl Pharmacol 170:2-9; Nau and Elmazar 1999, Handbook of experimental pharmacology, vol 139, Retinoids, Springer-Verlag, pp 465-487). The present study was designed to investigate whether these RAR-RXR heterodimer-mediated defects can be also induced by interactions of natural and synthetic ligands for retinoid receptors. A non-teratogenic dose of the natural RXR agonist phytanic acid (100 mg/kg orally) or its precursor phytol (500 mg/kg orally) was coadministered with a synthetic RARalpha-agonist (Am580; 5 mg/kg orally) to NMRI mice on day 8.25 of gestation (GD8.25). Furthermore, a non-teratogenic dose of the synthetic RXR agonist LGD1069 (20 mg/kg orally) was also coadministered with the natural RAR agonist, all- trans-retinoic acid (atRA, 20 mg/kg orally) or its precursor retinol (ROH, 50 mg/kg orally) to NMRI mice on GD8.25. The teratogenic outcome was scored in day-18 fetuses. The incidence of Am580-induced resorptions, spina bifida aperta, micrognathia, anotia, kidney hypoplasia, dilated bladder, undescended testis, atresia ani, short and absent tail, fused ribs and fetal weight retardation were potentiated by coadministration of phytanic acid or its precursor phytol. Am580-induced exencephaly and cleft palate, which were not potentiated by coadministration with the synthetic RXR agonists, were also not potentiated by coadministration with either phytanic acid or its precursor phytol. LGD1069 potentiated atRA- and ROH-induced resorption, exencephaly, spina bifida, aperta, ear anotia and microtia, macroglossia, kidney hypoplasia, undescended testis, atresia ani, tail defects and fetal weight retardation, but not cleft palate. These results suggest that synergistic teratogenesis can be induced by coadministration of a natural RXR ligand (phytanic acid) with a synthetic RAR agonist (Am580). Thus, certain potentially useful therapeutic agents or nutritional factors such as phytanic acid should be tested for teratogenic risk by coadministration with other retinoid receptor agonists.

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Section: Introductionmentioning

confidence: 79%

Potentiation of the teratogenic effects induced by coadministration of retinoic acid or phytanic acid/phytol with synthetic retinoid receptor ligands

Elmazar

Nau

2004

Arch Toxicol

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“…Anecdotal case reports include a 3-year-old boy with postnatal growth failure, microcephaly, developmental delay, minor facial anomalies, evolving pigmentary retinopathy, pituitary hypoplasia, micropenis, and growth GH deficiency diagnosed as microcephalic osteodysplastic slender-bone disorder by Maclean et al [2002]. Kaufman [1998] described two unrelated women with a disorder of RP, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial anomalies, and abnormal electroencephalograms. Additional syndromes involve renal abnormalities such as Senior-Loken syndrome complicated by nephrolithiasis and renal failure [Rivolta et al, 2002].…”

Section: Discussionmentioning

confidence: 98%

Autosomal recessive Oliver–McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy‐pituitary dysfunction)

Haimi

Gershoni‐Baruch

2005

American J of Med Genetics Pt A

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We describe a brother and sister with retinitis pigmentosa (RP), growth failure, long eyelashes, and sparse hair. They were born to young healthy consanguineous parents and presented at birth with IUGR. Evolving pigmentary retinopathy was diagnosed at the age of 5 years. A similar condition (Oliver-McFarlane) syndrome was reported previously. Our two sibs confirm the existence of this autosomal recessive syndrome.

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“…There were no neurological de®cits suggestive of either Refsum disease or Sjogren-Larsson syndrome in this family. Rud syndrome was formerly considered to be a genetically heterogeneous but distinct clinical entity with the manifestations of ichthyosis, hypogonadism, small stature, mental retardation, epilepsy and, infrequently, retinitis pigmentosa [Kaufman, 1998]. The existence of such a syndrome, however, has been recently disputed, based on a new understanding of the ichthyoses.…”

Section: Discussionmentioning

confidence: 98%

“…The existence of such a syndrome, however, has been recently disputed, based on a new understanding of the ichthyoses. Most cases previously reported as Rud syndrome can now be reassigned under a contemporary ichthyosis classi®cation that does not include Rud syndrome as a distinct entity [Kaufman, 1998]. Major diagnostic criteria for the Rud syndrome were ichthyosis, hypogonadism, mental retardation, and epilepsy [Munke et al, 1983].…”

Section: Discussionmentioning

confidence: 99%

Non‐bullous ichthyosiform erythroderma associated with retinitis pigmentosa

Rajagopalan

2001

Am. J. Med. Genet.

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Non-bullous ichthyosiform erythroderma (NBIE) is an autosomal recessive condition characterized by generalized erythema and scaling. Two brothers with NBIE and retinitis pigmentosa are reported. One of them also had a marfanoid habitus, thoracic kyphosis, and arachnodactyly, and was heterozygous for alpha 1 antitrypsin deficiency. A third brother had skin involvement, but normal vision. Retinitis pigmentosa has been described in association with NBIE as part of Rud syndrome, which is no longer considered a separate entity. Major diagnostic features of Rud syndrome, such as hypogonadism, mental retardation, and epilepsy were absent in this family. The association of NBIE with retinitis pigmentosa in this family seems distinct from any previously described, currently recognized syndrome.

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A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram

Abstract: The association of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram may represent a distinct syndrome previously considered a subset of the now defunct Rud syndrome.

Cited by 19 publications

References 20 publications

Potentiation of the teratogenic effects induced by coadministration of retinoic acid or phytanic acid/phytol with synthetic retinoid receptor ligands

Potentiation of the teratogenic effects induced by coadministration of retinoic acid or phytanic acid/phytol with synthetic retinoid receptor ligands

Autosomal recessive Oliver–McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy‐pituitary dysfunction)

Non‐bullous ichthyosiform erythroderma associated with retinitis pigmentosa

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