Reliable Methods to Evaluate the Clinical Severity of Ichthyosis

Kamalpour, Loebat; Rice, F.A.A.P. Zakiya P.; Pavlis, B S Michelle; Veledar, Emir; Chen, Shuo

doi:10.1111/j.1525-1470.2010.01114.x

Cited by 19 publications

(35 citation statements)

References 5 publications

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“…The respective severity of ichthyosis, intellectual disability, and spasticity should be stated together with the criteria used for this assessment. Different scales are available for ichthyosis (Ezzedine et al., ; Kamalpour, Rice, Pavlis, Veledar, & Chen, ; Marukian et al., ; Paller et al., ) and spasticity (Ashworth, ; Bohannon & Smith, ; Boyd & Kerr Graham, ). For classifying intellectual disability, the Diagnostic and Statistical Manual of Mental Disorders (DSM‐5) (Regier, Kuhl, & Kupfer, ) can serve as a well‐established guideline.…”

Section: Resultsmentioning

confidence: 99%

Genotype and phenotype variability in Sjögren-Larsson syndrome

et al. 2018

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The Sjögren–Larsson syndrome (SLS) is a rare autosomal recessive disorder caused by pathogenic variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH). FALDH prevents the accumulation of toxic fatty aldehydes by converting them into fatty acids. Pathogenic ALDH3A2 variants cause symptoms such as ichthyosis, spasticity, intellectual disability, and a wide range of less common clinical features. Interpreting patient‐to‐patient variability is often complicated by inconsistent reporting and negatively impacts on establishing robust criteria to measure the success of SLS treatments. Thus, with this study, patient‐centered literature data was merged into a concise genotype‐based, open‐access database ( www.LOVD.nl/ALDH3A2 ). One hundred and seventy eight individuals with 90 unique SLS‐causing variants were included with phenotypic data being available for more than 90%. While the three lead symptoms did occur in almost all cases, more heterogeneity was observed for other frequent clinical manifestations of SLS. However, a stringent genotype–phenotype correlation analysis was hampered by the considerable variability in reporting phenotypic features. Consequently, we compiled a set of recommendations of how to generate comprehensive SLS patient descriptions in the future. This will be of benefit on multiple levels, for example, in clinical diagnosis, basic research, and the development of novel treatment options for SLS.

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Section: Resultsmentioning

confidence: 99%

Genotype and phenotype variability in Sjögren-Larsson syndrome

et al. 2018

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“…The majority of the patients showed evident brown squamae covering large areas of the body surface (Figure ), which is characteristic of highly keratinized skin . We found significant differences in some of the parameters assayed by the Cutometer ® on ichthyosis surfaces related to reference areas.…”

Section: Resultsmentioning

confidence: 71%

“…The majority of the patients showed evident brown squamae covering large areas of the body surface ( Figure 1), which is characteristic of highly keratinized skin. 7,8,15 We found significant differences in some of the parameters assayed by the Cutometer ® on ichthyosis surfaces related to reference areas. A classic representative graph of the biomechanical behavior of ichthyosis plaques with respect to an adjacent reference zone of the same patient is depicted in Figure 2A; this behavior was similar in all analyzed patients.…”

Section: Re Sultsmentioning

confidence: 85%

“…Thus, it is pivotal to evaluate sensitively the characteristics of the skin. Until a few years ago, evaluation of the biomechanical properties of the skin could only be evaluated through biopsies of the patients, analyzed by stress‐strain curves and/or rupture systems, and by sensory perception with subjective visual evaluations . However, invasive methods could not be used for the routine assessment of patients, while subjective methods may demonstrate high variation.…”

Section: Discussionmentioning

confidence: 99%

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Non‐invasive analysis of skin mechanical properties in patients with lamellar ichthyosis

Cortés

Magaña

Reyes-Hernández

et al. 2019

Skin Research and Technology

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Background Reliable methods for the quantitative evaluation of skin of patients with ichthyosis are critically needed. Our purpose was to evaluate the biomechanical parameters of skin in a cohort of patients with clinically diagnosed lamellar ichthyosis. Materials and methods Twenty‐two patients diagnosed with lamellar ichthyosis were studied. Ichthyosis plaques located in upper distal limbs were assayed, and a nearby anatomical region without plaques from the same patient was employed as control. Skin biomechanical properties were studied through a non‐invasive device (Cutometer® MPA 580). Results Ichthyosis plaques had higher values for the Uf‐Ua parameter and lower values for the Ua/Uf, Ur/Ue, and Ur/Uf parameters. Adults and children showed similar statistical differences. There were no significant differences in data from men, whereas in women differences for all of the parameters were found. There was a significant decrease in the hydration and an increase in melanin index in the ichthyosis plaques. Conclusion Our results suggest that analysis of parameters Uf‐Ua, Ua/Uf, Ur/Ue, Ur/Uf, hydration, and melanin index could be employed for quantitative monitoring of skin. Therefore, the non‐invasive method applied may be suitable for evaluation of skin of patients with ichthyosis in response to medical treatments.

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“…Our study had the potential for selection bias. Because it was advertised as an investigation of ear symptoms and hearing loss in ichthyosis, patients with hearing problems may have been more likely to take our survey, although it was reassuring to find that the distribution of participants according to the type of ichthyosis was similar to that of other studies performed with FIRST members and was probably representative of the baseline population . We also relied on responses solely from participants without verification by physician reports or test results, which may have resulted in overreporting of symptoms.…”

Section: Discussionmentioning

confidence: 99%

Frequency of Ear Symptoms and Hearing Loss in Ichthyosis: A Pilot Survey Study

Huang

Mallon

Hamill

et al. 2014

Pediatric Dermatology

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Ichthyoses comprise a heterogeneous array of skin conditions resulting from impairment of cornification. Although ear structures can be affected, ear-related symptoms have never been investigated in patients with ichthyosis. In this pilot survey study, our aim was to determine the frequency of ear symptoms, hearing loss, and related medical interventions in patients with ichthyosis. Our secondary aim was to compare the frequency of these items according to age group. An online survey using Redcap was developed and posted online on the Foundation for Ichthyosis and Related Skin Types website for 6 months. Patients or parents of patients with ichthyosis were asked to complete the survey. Data analysis excluded patients with keratitis-ichthyosis-deafness syndrome and surveys that had fewer than two completed items. One hundred thirty-five unique surveys were used for data analysis. Of all participants, 80% reported ear pruritus, 66% reported trouble hearing, 29% reported frequent ear pain, 28% had abnormal hearing test results, and 16% had used hearing aids. Of the 88 participants who reported trouble hearing, 24 (27.3%) had never been to a hearing specialist. Significantly more participants older than 18 years of age (74%, 57/77) reported trouble hearing than participants age 18 years and younger (53%, 31/58; p = 0.02). The frequencies of other ear symptoms and hearing loss were not statistically significantly different between the age groups. Ear pruritus, ear pain, and hearing loss are important concerns in patients with all forms of ichthyosis in all age groups. Early diagnosis and intervention may improve the quality of life of patients with ichthyosis.

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Reliable Methods to Evaluate the Clinical Severity of Ichthyosis

Cited by 19 publications

References 5 publications

Genotype and phenotype variability in Sjögren-Larsson syndrome

Genotype and phenotype variability in Sjögren-Larsson syndrome

Non‐invasive analysis of skin mechanical properties in patients with lamellar ichthyosis

Frequency of Ear Symptoms and Hearing Loss in Ichthyosis: A Pilot Survey Study

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