Skin dimples

Kumar, Ajay; Kanojia, Rajesh Kumar; Saili, Arvind

doi:10.1111/ijd.12376

Cited by 11 publications

(8 citation statements)

References 40 publications

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“…A smaller proportion of cases (10%) had definite interruption of fetal movement leading to generalized arthrogryposis, as noted in other studies (Moura da Silva et al, ; Sarno et al, ). Cutaneous dimples at the joints are known to occur when movements are decreased in arthrogryposis syndromes, leading to sustained positioning that favors the adherence of the skin to the bone (Kumar, Kanojia, & Saili, ). Even when mobility is normal at birth, dimples and abnormal foot and hand positions appear to reflect periods of decreased movement in utero.…”

Section: Discussionmentioning

confidence: 99%

The phenotypic spectrum of congenital Zika syndrome

Campo

Feitosa

Ribeiro

et al. 2017

American J of Med Genetics Pt A

184

183

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In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). In response, the Brazilian Society of Medical Genetics established a task force (SBGM-ZETF) to study the phenotype of infants born with microcephaly due to ZIKV congenital infection and delineate the phenotypic spectrum of this newly recognized teratogen. This study was based on the clinical evaluation and neuroimaging of 83 infants born during the period from July, 2015 to March, 2016 and registered by the SBGM-ZETF. All 83 infants had significant findings on neuroimaging consistent with ZIKV congenital infection and 12 had confirmed ZIKV IgM in CSF. A recognizable phenotype of microcephaly, anomalies of the shape of skull and redundancy of the scalp consistent with the Fetal Brain Disruption Sequence (FBDS) was present in 70% of infants, but was most often subtle. In addition, features consistent with fetal immobility, ranging from dimples (30.1%), distal hand/finger contractures (20.5%), and feet malpositions (15.7%), to generalized arthrogryposis (9.6%), were present in these infants. Some cases had milder microcephaly or even a normal head circumference (HC), and other less distinctive findings. The detailed observation of the dysmorphic and neurologic features in these infants provides insight into the mechanisms and timings of the brain disruption and the sequence of developmental anomalies that may occur after prenatal infection by the ZIKV.

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Section: Discussionmentioning

confidence: 99%

The phenotypic spectrum of congenital Zika syndrome

Campo

Feitosa

Ribeiro

et al. 2017

American J of Med Genetics Pt A

184

183

View full text Add to dashboard Cite

show abstract

“…Previously published studies have suggested that the risk of spinal malformations in asympto- matic, healthy infants with an isolated simple sacral dimple is exceedingly low [1]. Alongside this, several studies have suggested that there is little value in investigating a simple sacral dimple with further imaging [5], whilst others suggest simply performing a screening ultrasound scan [1]. Importantly, there is no clear guidance on an appropriate diagnostic workup in this group of children [1].…”

Section: Discussionmentioning

confidence: 99%

“…• [5]. Sacral dimples are the most commonly seen cutaneous anomalies on paediatric spinal examination [5].…”

Section: Relationship Between Sacral Dimples and Spinal Cord Malformamentioning

confidence: 99%

“…• [5]. Sacral dimples are the most commonly seen cutaneous anomalies on paediatric spinal examination [5]. The more obvious lesions may be a manifestation of underlying tethered cord, justifying spinal cord imaging [1] [2], such as spinal MRI scan [5], or in younger babies, spinal ultrasound initially.…”

Section: Relationship Between Sacral Dimples and Spinal Cord Malformamentioning

confidence: 99%

“…Sacral dimples are the most commonly seen cutaneous anomalies on paediatric spinal examination [5]. The more obvious lesions may be a manifestation of underlying tethered cord, justifying spinal cord imaging [1] [2], such as spinal MRI scan [5], or in younger babies, spinal ultrasound initially. However, given that the presence of a simple sacral dimple in an otherwise healthy child is not always associated with underlying spinal cord tethering [1], there have been studies suggesting that further evaluation with imaging is not necessary [2].…”

Section: Relationship Between Sacral Dimples and Spinal Cord Malformamentioning

confidence: 99%

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Relationship Between Sacral Dimples and Spinal Cord Malformations in Children

Chauhan¹,

Moghal²,

Guessoum³

et al. 2017

JPSS

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Background: Traditional teaching states that if the base of a sacral dimple is visible, associated spinal cord abnormalities are unlikely. In our experience, we noted that in several patients this was not true. We therefore set out to evaluate the incidence of spinal cord abnormalities in a cohort of children with sacral dimple. Objective: Our objective was to determine the frequency of spinal cord abnormalities detected on whole-spine MRI in children with pure sacral dimple (cutaneous dimple without associated local pigmentation or hairy patch). The frequency of neurosurgical intervention in those with a spinal cord malformation was also calculated. Materials and methods: We retrospectively reviewed all patients under the age of 16 years with clinically confirmed pure sacral dimple, who had undergone spinal MRI between 2005 and 2016. Patients with coccygeal pits were excluded from the study. We analyzed the MRI findings, calculated the incidence of cord abnormalities, and proportion of those who subsequently underwent neurosurgical procedures, such as spinal cord untethering. Other associated abnormalities were documented. Results: During the 11-year study period, 33 patients (19 boys) with confirmed sacral dimple and whole-spine MRI were identified. The median age at the time of MRI was 21 months (range 2 months to 13 years). Eleven patients (33.3%) had abnormal cord detected on the MRI. Out of them, 4 had tethered cord, 2 had low lying cord (L2/3 level). Five had lesions related to the filum terminale (dermoid, cyst, lipoma). Of the four patients with tethered spinal cord, 2 had untethering procedures, 2 so far have been managed conservatively. Of the 7 patients with other cord abnormalities, 1 had excision of sacral dermoid. Nine of the 33 patients (27%) had other congenital anomalies, including 5 with syndromes. Conclusion: In our experience, the incidence of spinal cord abnormalities in children with pure sacral dimple was 33.3%, some of which required surgery. Other congenital abnormalities were common. We recommend whole spinel MRI and a careful search for other congenital abnormalities.

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Developmental Anomalies

Wobser¹,

Hamm²

2019

Harper's Textbook of Pediatric Dermatology

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Skin dimples

Cited by 11 publications

References 40 publications

The phenotypic spectrum of congenital Zika syndrome

The phenotypic spectrum of congenital Zika syndrome

Relationship Between Sacral Dimples and Spinal Cord Malformations in Children

Developmental Anomalies

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