Wrinkly skin syndrome: Phenotype and additional manifestations

Casamassima, Anthony C.; Wesson, Stanton K.; Conlon, Charles; Weiss, F.; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320270415

Cited by 16 publications

(20 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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%

“…We did not observe dwarfism, oligophrenia or corneal degeneration as described for De Barsy syndrome (OMIM 219150) [de Barsy et al, 1968]. Although both, GO and WSS, are characterized by excessive wrinkling of the skin, the degree and the extent of the wrinkling is different, as previously pointed out by Hunter et al, [1978] and Casamassima et al, [1987]. In our study, babies and young children with GO had ''droopy skin,'' particularly at the cheeks, but the wrinkling was confined to the dorsum of hands and feet and became apparent over the abdomen only in a sitting position.…”

Section: Discussionsupporting

confidence: 55%

See 1 more Smart Citation

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

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionsupporting

confidence: 71%

Section: Discussionsupporting

confidence: 55%

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

View full text Add to dashboard Cite

show abstract

“…Dermatoglyphic studies of these three conditions showed no significant abnormality other than an increased number of palmar and plantar creases, especially in reports of WSS (Gazit et al, 1973;Casamassima et al, 1987;Hurvitz et al, 1990). Many patients exhibit single transverse palmar creases.…”

Section: Dermatologic Aspectsmentioning

confidence: 90%

“…The skin heals normally and there is no tendency to easy bruising or bleeding (Casamassima et al, 1987).…”

Section: Dermatologic Aspectsmentioning

confidence: 99%

See 1 more Smart Citation

Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review

2005

View full text Add to dashboard Cite

Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth deficiency, mental retardation and bone dystrophy. Parental consanguinity in both families and a more pronounced severity of the neurological disease in the male patient were present. Both patients were diagnosed in infancy as having De Barsy syndrome, but clinical follow-up revealed that the clinical picture was compatible with the diagnosis of cutis laxa with growth and developmental delay (CLGDD), gerodermia osteodysplastica (GO) and wrinkly-skin syndrome (WWS). It has recently been suggested that cutis laxa with growth and developmental delay, gerodermia osteodysplastica and wrinkly skin syndrome are the same condition. A review concerning this diagnosis is also presented.

show abstract

Neurological involvement in a child with the wrinkly skin syndrome

et al. 1999

View full text Add to dashboard Cite

In 1973, a syndrome was reported comprising of wrinkled skin over the dorsum of hands, feet, and abdomen, reduced skin elasticity, skeletal involvement, craniofacial anomalies, mental and developmental delay, and failure to thrive. Only nine cases have been reported. Three additional cases with deletion 2q32 show some manifestations of this syndrome. We present another child with this syndrome with prominent neurological involvement manifested by mental retardation, microcephaly, and an episode of status epilepticus.

show abstract

Wrinkly skin syndrome: Phenotype and additional manifestations

Cited by 16 publications

References 22 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

Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review

Neurological involvement in a child with the wrinkly skin syndrome

Contact Info

Product

Resources

About