Pre-Descemet Corneal Dystrophy and X-Linked Ichthyosis Associated With Deletion of Xp22.31 Containing the STS Gene

Hung, Crystal; Ayabe, Reed I.; Wang, Cynthia; Frausto, Ricardo F.; Aldave, Anthony J.

doi:10.1097/ico.0b013e318298e176

Cited by 28 publications

(8 citation statements)

References 22 publications

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“…The percentage of cryptorchidism in our patients (12.9%) is in line with the literature findings in XLI, while the absence of corneal opacities can be explained by their young age. Indeed, the detection of corneal opacities is quite rare before puberty . Nine of 33 patients (27%) presented manifestations of ADHD, confirming recent literature findings on the increased prevalence of these behavioural phenotypes in XLI .…”

Section: Discussionsupporting

confidence: 81%

X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients

Diociaiuti

Angioni

Pisaneschi

et al. 2018

Experimental Dermatology

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Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. A complete deletion of the STS gene is found in 85%-90% of cases. Rarely, larger deletions involving contiguous genes are detected in syndromic patients. We report the clinical and molecular genetic findings in a series of 35 consecutive Italian male patients. All patients underwent molecular testing by MLPA or aCGH, followed, in case of negative results, by next-generation sequencing analysis. Neuropsychiatric, ophthalmological and paediatric evaluations were also performed. Our survey showed a frequent presence of disease manifestations at birth (42.8%). Fold and palmoplantar surfaces were involved in 18 (51%) and 7 (20%) patients, respectively. Fourteen patients (42%) presented neuropsychiatric symptoms, including attention-deficit hyperactivity disorder and motor disabilities. In addition, two patients with mental retardation were shown to be affected by a contiguous gene syndrome. Twenty-seven patients had a complete STS deletion, one a partial deletion and 7 carried missense mutations, two of which previously unreported. In addition, a de novo STS deletion was identified in a sporadic case. The frequent presence of palmoplantar and fold involvement in XLI should be taken into account when considering the differential diagnosis with ichthyosis vulgaris. Our findings also underline the relevance of involving the neuropsychiatrist in the multidisciplinary management of XLI. Finally, we report for the first time a de novo mutation which shows that STS deletion can also occur in oogenesis.

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Section: Discussionsupporting

confidence: 81%

X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients

Diociaiuti

Angioni

Pisaneschi

et al. 2018

Experimental Dermatology

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“…So we speculated that his mother and his maternal mother were heterozygous females, and the STS gene deletion of our patient was hesitated from them. Hung et al [ 19 ] also demonstrated that the corneal changes in PDCD and X-linked ichthyosis were associated with deletion of the STS detected with microarray-based comparative genomic hybridization. STS is found throughout the body, including the epidermis, where it is thought to play a role in the steroid production and lipid regulation of the stratum corneum [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report

Shi

Liu

et al. 2017

BMC Ophthalmol

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BackgroundPre-Descemet corneal dystrophy (PDCD) is characterized by the presence of numerous, tiny, polymorphic opacities immediately anterior to Descemet membrane, which is a rare form of corneal stromal dystrophy and hard to be diagnosed. In vivo confocal microscopy (IVCM) is a useful tool to examine the minimal lesions of the cornea at the cellular level. In this article, we report a rare case of PDCD associated with X-linked ichthyosis and evaluate IVCM findings.Case presentationWe present a 34-year-old male Chinese patient with PDCD associated with X-linked ichthyosis. Slit-lamp biomicroscopy showed the presence of tiny and pleomorphic opacities in the posterior stroma immediately anterior to Descemet membrane bilaterally. IVCM revealed regular distributed hyperreflective particles inside the enlarged and activated keratocytes in the posterior stroma. Hyperreflective particles were also observed dispersedly outside the keratocytes in the anterior stroma. Dermatological examination revealed that the skin over the patient’s entire body was dry and coarse, with thickening and scaling of the skin in the extensor side of the extremities. PCR results demonstrated that all ten exons and part flanking sequences of STS gene failed to produce any amplicons in the patient.ConclusionsIVCM is useful for analyzing the living corneal structural changes in rare corneal dystrophies. We first reported the IVCM characteristics of PDCD associated with X-linked ichthyosis, which was caused by a deletion of the steroid sulfatase (STS) gene, confirmed by gene analysis.

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“…As steroid sulfatase deficiency leads to elevated plasma levels of cholesterol sulfate, corneal opacities are thought to represent focal accumulations of cholesterol sulfate 40. Hung et al 44 have reported a case of pre-Descemet corneal dystrophy associated with XLI in which the diagnosis was confirmed by identification of a deletion of the steroid sulfatase gene. However, corneal deposits do not occur in all patients even with raised levels of cholesterol sulfate 35 37 45.…”

Section: Ophthalmic Featuresmentioning

confidence: 99%

Ocular manifestations, complications and management of congenital ichthyoses: a new look

2017

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Congenital ichthyoses (CI) are rare genetic skin keratinisation diseases characterised by generalised scaling and a variable degree of erythema and hyperkeratosis. Ocular involvement includes the eyelids, conjunctiva and all layers of the cornea. Ophthalmic input should include regular slit lamp review with the primary aim to prevent a corneal epithelial defect, secondary bacterial infection, scarring or perforation. This review highlights the current literature regarding ophthalmic findings and management of CI.

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Pre-Descemet Corneal Dystrophy and X-Linked Ichthyosis Associated With Deletion of Xp22.31 Containing the STS Gene

Cited by 28 publications

References 22 publications

X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients

X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients

In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report

Ocular manifestations, complications and management of congenital ichthyoses: a new look

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