The wrinkly skin syndrome: a report of a case and review of the literature

Hurvitz, S. A.; Baumgarten, A.; Goodman, Richard M.

doi:10.1111/j.1399-0004.1990.tb03585.x

Cited by 18 publications

(4 citation statements)

References 12 publications

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“…The WSS patients had clinical features similar to those described in previous reports [Gazit et al, 1973;Karrar et al, 1983;Casamassima et al, 1987;Hurvitz et al, 1990;Morava et al, 2005] and their phenotype resembled closely the one described for autosomal recessive CLGDD/ARCL type II [Agha et al, 1978;Philip, 1978;Ogur et al, 1990;Kreuz and Wittwer, 1993;Imaizumi et al, 1994;Loeys et al, 2002]. Ogur et al [1990] reported Turkish sibs where the boy was severely affected with the classical form of CLGDD, while his sister showed improvement with age and at the age of 6.5 years presented with a relatively mild disease, including cutaneous manifestations similar to those found in WSS.…”

Section: Discussionsupporting

confidence: 71%

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

Rajab

Kornak

Budde

et al. 2008

American J of Med Genetics Pt A

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Excessive skin wrinkling and cutis laxa are seen in many genetic conditions and overlapping features can make a clinical diagnosis difficult. Here we report on 22 Omani patients from 11 consanguineous families with the diagnosis of wrinkly skin syndrome (WSS, OMIM 278250) or geroderma osteodysplasticum hereditaria (GO, OMIM 231070). The WSS phenotype evolves during early childhood and includes a generalized and excessive skin wrinkling, dental problems, herniae, foot deformities, hip dislocations, growth retardation, and a large anterior fontanelle. The facial gestalt is characterized by a broad nasal bridge, hypertelorism, and downslanting palpebral fissures. We were unable to differentiate between WSS and cutis laxa with growth and developmental delay (CLGDD, OMIM 219200) suggesting that both can be considered as one entity. Distinct hallmarks of GO were skin wrinkling limited to the dorsum of hands and feet and to the abdomen, normal fontanelles, maxillary hypoplasia, bowed long bones, and osteopenia with frequent fractures. In contrast to the attenuation of the skin phenotype with age in WSS, adult patients with GO appeared prematurely aged. A serum sialotransferrin type 2 pattern was found in all four WSS patients tested. Apolipoprotein CIII (a marker for O-glycosylation) was normal suggesting that WSS is frequently associated with a N-protein glycosylation defect, probably at the level of processing (CDG-II). All four investigated GO patients showed normal sialotransferrin patterns. The known loci for cutis laxa and WSS on 2q31, 5q23-q31, 7q11, 11q13, and 14q32 were excluded. We suggest that WSS and GO are distinct entities with overlapping features.

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Section: Discussionsupporting

confidence: 71%

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

Rajab

Kornak

Budde

et al. 2008

American J of Med Genetics Pt A

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“…Gazit et al (14) coined the term WSS to describe congenital wrinkly skin, more prominent on the dorsae of the hands, the feet, and abdomen, prenatal and postnatal growth retardation hypermobility of joints, increased numbers of creases on palms and soles, and a prominent venous pattern. Subsequently, many patients with additional features were described (13–22). Al‐Gazali et al (11) reported five patients who had overlapping features of GO and WSS.…”

Section: Discussionmentioning

confidence: 99%

“…Wrinkly skin syndrome (WSS; OMIM 278250) is another rare autosomal recessive condition that is characterized by congenital wrinkly skin, prominent venous texture, intrauterine growth retardation, developmental delay, an aged appearance, and various craniofacial and musculoskeletal abnormalities. Since first being described in 1973, around 22 patients have subsequently been reported in the literature (13–22). The occurrences of GO and WSS have been described in different races, but most of the reports are from the countries of the Middle East (8,10,11,14,16,23) and this is linked to the high incidence of consanguineous marriages in this region.…”

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confidence: 99%

Gerodermia Osteodysplastica/Wrinkly Skin Syndrome: Report of Three Patients and Brief Review of the Literature

Nanda

Alsaleh

Al‐Sabah

et al. 2008

Pediatric Dermatology

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Gerodermia osteodysplastica and wrinkly skin syndrome are rare autosomal recessive disorders. Due to the many phenotypic similarities in these two conditions, it has been proposed that they represent the same disorder. Both conditions are well delineated in the genetic literature, but despite skin involvement being a striking feature, they are rarely reported in dermatology journals. In this report, we describe three Arab children from two consanguineous families who exhibit overlapping features of gerodermia osteodysplastica and wrinkly skin syndrome. All the patients had dysmorphic facial features, wrinkled skin more marked on the hands and feet, hyperextensible joints, intrauterine growth retardation, developmental delay, congenital dislocation of hips, and osteoporosis. Our observations also support the contention that gerodermia osteodysplastica and wrinkly skin syndrome have the same clinical spectrum; however, this needs to be confirmed at the molecular level.

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“…Although there are several genes that have been identified as causative for these diseases, only the wrinkly skin syndrome form of cutis laxa (Hurvitz et al, 1990;Zlotogora, 1999) and Ehlers-Danlos forms I, II, and IV (De Paepe and Malfait, 2004) have been linked to mutations in genes for which the mouse orthologs reside in the identified Sagg interval on the proximal arm of mouse chromosome 1 (Nolan et al, 2000).…”

Section: Introductionmentioning

confidence: 99%

Collagen Dysregulation in the Dermis of the Sagg/+ Mouse: A Loose Skin Model

Christner

Gentiletti

Peters

et al. 2006

Journal of Investigative Dermatology

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The Sagg/+ mouse is an ethylnitrosourea-derived mutant with a dermal phenotype similar to some of the subtypes of Ehlers-Danlos syndrome (EDS) and cutis laxa. The dermis of the Sagg/+ mouse has less dense and more disorganized collagen fibers compared to controls. The size of extracted Type I dermal collagen was the same as that observed in normal skin; however, more collagen could be extracted from Sagg/+ skin, which also showed decreased collagen content and decreased steady-state levels of alpha1(I), alpha2(I), alpha1(V), and alpha2(V) procollagen mRNAs. The biomechanical properties of Sagg/+ skin were significantly decreased relative to normal skin. However, there were no significant differences in the quantities of the major collagen cross-links, that is, dehydrohydroxylysinonorleucine and dehydrohistidinohydroxymerodesmosine between Sagg/+ and normal skin. Electron microscopic evaluation of Sagg/+ skin indicated that the mutation interferes with the proper formation of collagen fibrils and the data are consistent with a mutation in Type V collagen leading to haploinsufficiency with the formation of two sub-populations of collagen fibrils, one normal and one with irregular shape and a larger diameter. Further study of this novel mutation will allow the identification of new mechanisms involved in the regulation of normal and pathologic collagen gene expression.

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The wrinkly skin syndrome: a report of a case and review of the literature

Cited by 18 publications

References 12 publications

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

Gerodermia Osteodysplastica/Wrinkly Skin Syndrome: Report of Three Patients and Brief Review of the Literature

Collagen Dysregulation in the Dermis of the Sagg/+ Mouse: A Loose Skin Model

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