Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: Three new cases and review of the literature

Verloes, Alain; Mulliez, N; Gonzalès, Marie; Laloux, Françoise; Hermanns‐Lê, Trinh; Ge, Piérard; Koulischer, L

doi:10.1002/ajmg.1320430308

Cited by 45 publications

(40 citation statements)

References 13 publications

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“…Histologically, the skin shows hyperkeratosis, a thin dermis, abnormally dense collagen bundles, with almost completely absent elastic fibers. Patients' death results in most cases from respiratory failure [169,170]. Most patients affected with RD carry homozygous or compound heterozygous null mutations in ZMPSTE24 [171] while a very small subset of RD cases are associated to splicing mutations in LMNA with similar pathophysiological consequences as compared to HGPS [144].…”

Section: Hgps and Rd Are Premature Aging Related Disordersmentioning

confidence: 99%

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

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Harhouri

et al. 2014

Seminars in Cell & Developmental Biology

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Lamin A-related progeroid syndromes are genetically determined, extremely rare and severe. In the past ten years, our knowledge and perspectives for these diseases has widely progressed, through the progressive dissection of their pathophysiological mechanisms leading to precocious and accelerated aging, from the genes mutations discovery until therapeutic trials in affected children. A-type lamins are major actors in several structural and functional activities at the nuclear periphery, as they are major components of the nuclear lamina. However, while this is usually poorly considered, they also play a key role within the rest of the nucleoplasm, whose defects are related to cell senescence. Although nuclear shape and nuclear envelope deformities are obvious and visible events, nuclear matrix disorganization and abnormal composition certainly represent the most important causes of cell defects with dramatic pathological consequences. Therefore, lamin-associated diseases should be better referred as laminopathies instead of envelopathies, this later being too restrictive, considering neither the key structural and functional roles of soluble lamins in the entire nucleoplasm, nor the nuclear matrix contribution to the pathophysiology of lamin-associated disorders and in particular in defective lamin A processing-associated aging diseases. Based on both our understanding of pathophysiological mechanisms and the biological and clinical consequences of progeria and related diseases, therapeutic trials have been conducted in patients and were terminated less than 10 years after the gene discovery, a quite fast issue for a genetic disease. Pharmacological drugs have been repurposed and used to decrease the toxicity of the accumulated, unprocessed and truncated prelaminA in progeria. To date, none of them may be considered as a cure for progeria and these clinical strategies were essentially designed toward reducing a subset of the most dramatic and morbid features associated to progeria. New therapeutic strategies under study, in particular targeting the protein expression pathway at the mRNA level, have shown a remarkable efficacy both in vitro in cells and in vivo in mice models. Strategies intending to clear the toxic accumulated proteins from the nucleus are also under evaluation. However, although exceedingly rare, improving our knowledge of genetic progeroid syndromes and searching for innovative and efficient therapies in these syndromes is of paramount importance as, even before they can be used to save lives, they may significantly (i) expand the affected childrens' lifespan and preserve their quality of life; (ii) improve our understanding of aging-related disorders and other more common diseases; and (iii) expand our fundamental knowledge of physiological aging and its links with major physiological processes such as those involved in oncogenesis.

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Section: Hgps and Rd Are Premature Aging Related Disordersmentioning

confidence: 99%

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

Cau

Navarro

Harhouri

et al. 2014

Seminars in Cell & Developmental Biology

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“…All affected infants have a remarkably similar face with a small, round, and open mouth, microgenia, small nose, slight antimongoloid slants, and bulging eyes. Verloes et al [1992] speak of the face of an ''Asiatic porcelain doll,'' which should make it easy to recognize. The skin resembles a rigid, tight structure, is erythematous with or without fragile blisters, and sometimes erodes extensively.…”

Section: Discussionmentioning

confidence: 99%

Restrictive dermopathy: Report and review

et al. 1997

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Restrictive dermopathy (RD) is a lethal autosomal recessive genodermatosis (MIM No. 275210) in which tautness of the skin causes fetal akinesia or hypokinesia deformation sequence (FADS). Polyhydramnios with reduced fetal movements is followed by premature delivery at around 31 weeks gestation. Manifestations include a tightly adherent, thin, translucent skin with prominent vessels, typical facial changes, generalized joint contractures, enlarged fontanelles, dysplasia of clavicles, respiratory insufficiency, and an enlarged placenta with short umbilical cord. Histologic abnormalities of the skin include thin dermis with paucity and hypoplasia of the appendages and abnormally arranged collagen bundles. Elastic fibers are nearly missing. The subcutaneous fat is slightly increased. These skin findings usually appear after 22 or 24 weeks of gestation, which is why prenatal diagnosis with skin biopsy may fail. This disease is easily differentiated from other congenital FADS, such as Pena-Shokeir syndrome, COFS syndrome, Parana hard-skin syndrome, etc. We report on an affected boy of consanguineous parents and 30 previous cases are reviewed.

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“…Die Schwangerschaft wird häufig durch Polyhydramnion (>85%) und vorzeitigen Blasensprung kompliziert. Überdies bestehen in der Regel eine intrauterine Wachstumsretardierung und deutlich verminderte Kindsbewegungen im Sinne einer fetalen Akinesie [4,17,21,23,28,32].…”

Section: Restriktive Dermopathie*unclassified

“…Verloes sprach von einer asiatischen Porzellanpuppe [28] -und der Arthrogryposis sind in der Literatur [28,30] folgende Auffälligkeiten beschrieben worden: Polyhydramnion, fetale Akinesie, Blepharophimosis, Risse der Haut des frontalen Halses oder der Leiste häufig während der Entbindung, Ektropion, Fehlen der Wimpern, kleine schmächtige Nase, tief sitzende Ohren, schaukelstuhlartige Füße [30,32], gelegentlich vorzeitiger Zahndurchbruch [11,17,28] sowie radiologische Anomalien vielfältiger Art: schlecht mineralisierte Schädelknochen mit weiten Fontanellen, Mikrognathie, dünne dysplastische Klavikel, irreguläre Rippen, sog. "overtubulation" der Humeri [21,28] und Unterarmknochen.…”

Section: Fallberichtunclassified

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Restriktive Dermopathiey

et al. 1999

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Restrictive dermopathy is a rare, fatal, autosomal recessive, congenital skin disease. Rigidity of translucent thin skin, which is thus highly vulnerable and tears, spontaneously causes intra-uterine fetal akinesia or hypokinesia deformation sequence (FADS), characteristic dysmorphic facies with fixed open mouth in O position, and generalized joint contractures (arthrogryposis). Polyhydramnios and pulmonary hypoplasia are distinctive manifestations, leading to respiratory insufficiency and premature delivery at about 31 weeks of gestation. We report on a case of a prematurely born infant who presented with the typical morphological features and describe the light- and electron-microscopical findings as described in the literature.

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Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: Three new cases and review of the literature

Cited by 45 publications

References 13 publications

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

Restrictive dermopathy: Report and review

Restriktive Dermopathiey

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