Wrinkly Skin Syndrome

Alternative Names

  • WSS
Back to search Result
WHO-ICD-10 version:2010

Diseases of the musculoskeletal system and connective tissue

Systemic connective tissue disorders

OMIM Number

278250

Mode of Inheritance

Autosomal recessive

Gene Map Locus

12q24.3

Description

The wrinkly skin syndrome is an autosomal recessive syndrome in which there is wrinkling of the skin on the dorsum of the hands, feet, and abdomen; increased number of creases on the palm and soles; hypermobility of the small joints of the hands associated with intrauterine growth retardation (IUGR); poor postnatal growth; and developmental delay.

Molecular Genetics

In recent reports, there is evidence that at least some cases of the wrinkly skin syndrome, like autosomal recessive cutis laxa type II (Debre-type) are caused by loss-of-function mutations in the ATP6V0A2 gene. Additionally, in a report on two children with wrinkly skin syndrome scientists noted a del 2q32. This observation is suggestive that the collagen genes COL3A1 and COL5A2 could be candidate genes for gerodermia osteodysplastica and wrinkled skin syndrome. Mutation in COL3A1 causes Ehlers-Danlos IV (EDS IV), while mutation in COL5A2 gene produce EDS type I and II phenotype.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
278250.G.1OmanUnknownYes Lack of skin elasticity; Delayed crania...NM_012463.4:c.294+1G>AHomozygousAutosomal, RecessiveKornak et al. 2008 9 patients from 3 Om...
278250.G.2OmanUnknownYes Lack of skin elasticity; Delayed crania...NM_012463.4:c.1929delHomozygousAutosomal, RecessiveKornak et al. 2008 2 members of an Oman...

Other Reports

Jordan

[See: Palestine > Hamamy et al., 2005].

Kuwait

A survey performed by Bastaki et al. (1992) between 1985 and 1989 reported the overall incidence of genodermatosis in Kuwait Maternity Hospital to be 0.26 per 1000 livebirths and the incidence of wrinkling skin syndrome as 0.012 per 1000 livebirths. 

[Bastaki L, Al-Awadi A, Naguib KK. Incidence of genodermatosis among the neonates in Kuwait Maternity Hospital: 1985 to 1989 survey report, Kuwait Medical Genetics Centre, 1992, Kuwait.]

Oman

Rajab et al. (2008) prospectively studied Omani patients diagnosed with WSS, cutis laxa with growth and developmental delay (ARCL2), and geroderma osteodysplastica (GO) between 1993 and 2004. All patients were assessed clinically and radiologically and family histories were taken. A total of 11 patients from five nuclear families were diagnosed with GO during this period. Interestingly, eight of these patients belonged to the same tribal unit. Patients affected with WSS had wiry, sparse hair, dystrophic nails, and hypodontia with dental caries, in addition to hernia, diverticula, and emphysema. Common radiological features in the patients included slender bones, coxa vera, high vertebral bodies, as well as dislocation of joints. This was different from patients affected with GO, who predominantly showed osteoporosis, mandibular thinning, and an abnormal triangular shape of the iliac wings. Analysis of glycolysation pattern of transferrin in three of the patients revealed a sialotransferrin type 2 pattern, indicating a defect in glycan processing. Rajab et al. (2008) found it difficult to distinguish between WSS and ACRL2, and proposed that the two are entities of the same disorder. They also conducted linkage studies targeting several loci on chromosome 2q, 5q, 7q, and 14q known to be involved in cutis laxa and WSS phenotypes. None of these regions showed any linkage to the disease.

Palestine

Al-Gazali et al. (2001) reported three patients for a Palestinian consanguineous couple, residents of the United Arab Emirates, who also have one normal child. All children had similar dysmorphic facial features consisting of broad and prominent forehead, hypotelorism with epicanthal folds, prominent bulbous nose, flat malar region, and large protruding ears. All had wrinkling of the skin more marked on the dorsum of the hands, feet, and abdomen; hyperextensibility of the joints, particularly of the hands; and aged appearance. Intrauterine growth retardation, subsequent failure to thrive, developmental delay, and variable degree of osteoporosis was also present in all of them. The older children developed progressive prognathism. In view of the similarities and overlap between geroderma osteodysplastica, wrinkly skin syndrome, and cutis laxa and developmental delay, Al-Gazali et al. (2001) suggested that all these syndromes represent variable manifestation of the same disorder.

Hamamy et al. (2005) reported on a female patient with Wrinkly Skin Syndrome in Jordan, born to consanguineous parents of Palestinian origin. The patient was born with a large head, large anterior fontanel, and facial dysmorphism. At the age of 1-year, she showed developmental delay, with length, weight, and head circumference all below the normal percentile. When she was examined at the age of 2-years, she was found to have skin wrinkling on the dorsa of her hands, feet and anterior abdominal wall, hyperextensibility of joints, prominent veins on her chest, hypertelorism, a prominent bulbous nose, protruding ears, and brachycephaly. Electrophysiological studies showed the presence of prolonged visual evoked potentials and a mild left conductive hearing impairment. Brain MRI showed corpus callosum agenesis, along with a high third ventricle and colpocephaly.

Saudi Arabia

Karrar et al. (1983) reported a brother and sister born to a Saudi couple who showed aging appearance, wrinkled skin over the hands and feet, inelastic skin, prominent veins over the hands, and other musculoskeletal and connective tissue manifestations. Both children were small for their age and had congenital dislocation of the hips.

Syria

Al-Gazali et al. 2001 reported two children for a Syrian consanguineous couple, residents of the United Arab Emirates, with no family history of any significant problems. Both children had similar dysmorphic facial features consisting of broad and prominent forehead, hypotelorism with epicanthal folds, prominent bulbous nose, flat malar region, and large protruding ears. They had wrinkling of the skin more marked on the dorsum of the hands, feet, and abdomen; hyperextensibility of the joints, particularly of the hands; and aged appearance. Intrauterine growth retardation, subsequent failure to thrive, developmental delay, and variable degree of osteoporosis was also present in both of them. In view of the similarities and overlap between geroderma osteodysplastica, wrinkly skin syndrome, and cutis laxa and developmental delay, Al-Gazali et al. (2001) suggested that all these syndromes represent variable manifestation of the same disorder.

© CAGS 2024. All rights reserved.