Ichthyosis are a heterogenous group of disorders due to an underlying defect in keratinization and desquamation of epidermis. The disease is clinically diagnosed by rough dry skin with scaling over the body. There is a production of abnormal scales resulting in abnormal thickness of stratum corneum with skin inflammation. Treatment of ichthyosis involves paraffin and urea-based emollient application to improve epidermal hydration. Various studies have been conducted in the past regarding quality of life (QoL) in patients with ichthyosis. QoL is defined as perspective of patient toward his/her position in life and how he/she perceives the disease or it's treatment. Pediatric patients suffering from ichthyosis have psychological problems and often face social discrimination. The current study was done to know the QoL among pediatric patients with congenital ichthyosis.
Materials and Methods
This was a hospital-based study conducted in the outpatient Department of Dermatology. The study was conducted from June 2017 to May 2018 after taking approval from Institutional research and ethics committee (05/11/2016, Ref. No. KIMS/IEC/ D-38/ 2016).
Infants' Dermatitis QoL Index, Children's Dermatology Life Quality Index (CDLQI), and Dermatitis Family Impact Questionnaire (DFI) were used to evaluate QoL of infants and children <4 years old, QoL of 4–16 years old, and QoL of families, respectively. QoL was measured using an established questionnaire, CDLQI questionnaire which included 10 questions concerning 6 areas of the patients' lives: “symptoms and feelings,” “school or holidays,” “leisure,” “sleep,” “personal relationships,” and “treatment.” Each question has four alternative responses: “not at all,” “a little,” “a lot,” and “very much” with corresponding scores as 0, 1, 2, and 3, respectively. The CDLQI score is calculated by summing up scores of individual questions ranging from 0 to 30. The DFI Questionnaire contains 10 questions which measure the influence of children's disease on different fields of life of their family members. The greater the score, higher the impairment in the QoL of patients/parents. The assessment questionnaire was filled for the past 1 week before visit to the clinic.
Inclusion criteria were patients of age <16 years with clinical diagnosis of congenital ichthyosis. A total of 72 patients were enrolled for the study on the basis of clinical pattern. Convenient sampling was used to enrol subjects who visited the dermatology OPD. Global disease severity scale was also used to label the disease severity as mild/moderate/severe/very severe.
Diagnosis of ichthyosis was based on clinical manifestation. Various clinical details such as age of onset, duration and involvement of other systems such as skeletal system, central nervous system, were recorded. These questionnaires were filled by only one investigator to avoid interobserver variability bias. The parents were allowed to accompany the subjects but it was ensured that the subject was not prompted for responses. The investigator read out the questionnaire and recorded the response. The questionnaires were translated in local vernacular language (Kannada/English/Hindi) and the translation was validated by an independent researcher. Written informed consent was taken from parents/guardian of the patients. The objectives and design of the study were explained beforehand to every participant/parent/guardian. There were changes made in the treatment protocol after getting poor response of the subjects.
Data were entered in Microsoft Excel spreadsheet and analyzed using SPSS (the Statistical Package for the Social Sciences) for Windows version 16.0 (IBM corporation, USA). Categorical data were analyzed using Chi-square test and normally distributed quantitative data were analyzed using independent sample t-test. Binary logistic regression analysis was performed to determine the impact of factors associated with a QoL impairment (DLQI score >10). Point of statistical significance was considered when P value was less than 0.05 (P < 0.05).
A total of 60 questionnaires were completed after interviewing 72 subjects (response rate: 83.3%). Most of the patients were on topical therapy for ichthyosis. Demographic profile and clinical features of the study population have been described in Table 1 which shows that maximum parents had history of consanguineous marriage. Rickets and genu valgum were observed in 3 patients of lamellar ichthyosis. Age of onset of the disease has been described in Table 2 which shows that most of the patients had an early onset of the disease. Lamellar ichthyosis showed onset of disease at birth in all 10 cases (100%). Similarly, Table 3 shows the score of QoL experienced by pediatric patients using Infants' Dermatitis Life Quality Index and Children Dermatology Life Quality Index. Highest scores were observed with questions related to “itchy/painful skin” and “treatment problems.” Mean score of patient's DFI questionnaire was 9.94 ± 7.23. Highest scores were observed with questions related to effect on housework and help with the child's treatment/expenditure in the DFI questionnaire. Significant correlation was observed between the DFI and CDLQI scores. Bullous ichthyosiform erythroderma and ichthyosis vulgaris were the conditions having highest family impact scores [Table 4].
This study was conceived to know the effect of congenital ichthyosis on the QoL of the patients and their immediate caregivers/family members. The response rate was fairly high (83.3%) with 60 subjects completing the questionnaires. The mean age was 7.26 years with median age 8 years. Females were in majority with proportion of 60% which was similar to the study by Wisuthsarewong et al. where 67.4% of the respondents were females.
Ichthyosis vulgaris and lamellar ichthyosis constituted 76.7% and 16.7% of pediatric ichthyosis cases, respectively, whereas in study done by Sivayadevi et al., 71.8% and 14.1% of cases were classified as ichthyosis vulgaris and lamellar ichthyosis. The age of onset of ichthyosis vulgaris was 3–6 months in 98% of patients. In lamellar ichthyosis, bullous, and nonbullous ichthyosiform erythroderma, the age of onset was from birth. These results were similar to study done by Sivayadevi et al.
Large impact on QoL was observed in 77.8% and 66.6% of subjects suffering from ichthyosis vulgaris and lamellar ichthyosis, respectively. Wisuthsarewong et al. reported that QoL score was lower among those patients who had severe clinical disease and in those who did not use moisturizer. Gånemo reported that male children and children in the age group of 5–8 years had lower score of QoL. Lamellar ichthyosis had lower scores of QoL compared to Netherton's syndrome. Only 4.4% and 11.1% of patients had no or little impact on QoL among ichthyosis vulgaris and lamellar ichthyosis, respectively.
Mean score of DFI in our study was 9.94 ± 7.23 which was comparable to the scores of different countries. Marciniak et al. reported that DFI score was higher in mothers than fathers of the patients. Gånemo reported that family impact scores were higher among children of age group 5–8 years and scores decreased with increasing age group. In our study, lamellar ichthyosis had lowest family impact scores as compared to other types of ichthyosis. The observed impact on the children's QoL is in line with the previous study published in Indian subcontinent. It is evident from the present study that patients and their families both need psychosocial and mental support to cope up with the disease.
Females are more prone to have poor QoL score as societal system looks down upon females with skin lesions. Females also tend to have depression and anxiety due to stigma attached with social taboo with skin lesions.
Strengths and limitations
The strength of the study was that validated tools were used to assess the QoL and DFI among ichthyosis patients and their families. Limitations include a small sample size and nonavailability of both parents at the time of interview.
In conclusion, it can be summarized that congenital ichthyosis patients have poor QoL, especially among females when compared to males. Dermatitis Family Index scores also showed higher impact among patients of ichthyosis vulgaris similar to previous studies. Therefore, assessment of QoL among pediatric patients and their caregivers should be incorporated as a routine and essential measure during the follow-up visits at the physician's clinic.
Declaration of Consent
The authors certify that they have obtained all appropriate patient consent forms, duly signed by the parent(s) of the patient. In the form, the parent(s) has/have given his/her/their consent for images and other clinical information to be reported in the journal. The parents understand that name and initials of their child will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
1. Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, et al Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009 J Am Acad Dermatol. 2010;63:607–41
2. Gånemo A, Lindholm C, Lindberg M, Sjödén PO, Vahlquist A. Quality of life in adults with congenital ichthyosis J Adv Nurs. 2003;44:412–9
3. Gånemo A, Sjöden PO, Johansson E, Vahlquist A, Lindberg M. Health-related quality of life among patients with ichthyosis Eur J Dermatol. 2004;14:61–6
4. Mazereeuw-Hautier J, Dreyfus I, Barbarot S, Serrentino L, Bourdon-Lanoy E, Ezzedine K, et al Factors influencing quality of life in patients with inherited ichthyosis: A qualitative study in adults using focus groups Br J Dermatol. 2012;166:646–8
5. Kamalpour L, Gammon B, Chen KH, Veledar E, Pavlis M, Rice ZP, et al Resource utilization and quality of life associated with congenital ichthyoses Pediatr Dermatol. 2011;28:512–8
6. What quality of life? The WHOQOL Group. . World Health Organization quality of life assessment World Health Forum. 1996;17:354–6
7. Lawson V, Lewis-Jones MS, Finlay AY, Reid P, Owens RG. The family impact of childhood atopic dermatitis: The Dermatitis Family Impact Questionnaire Br J Dermatol. 1998;138:107–13
8. Lewis-Jones MS, Finlay AY, Dykes PJ. The Infants' dermatitis quality of life index Br J Dermatol. 2001;144:104–10
9. Lewis-Jones MS, Finlay AY. The Children's Dermatology Life Quality Index (CDLQI): Initial validation and practical use Br J Dermatol. 1995;132:942–9
10. Wisuthsarewong W, Nitiyarom R, Boonpuen N. Childhood atopic dermatitis: Impact on quality of life in Thai children and their families Astrocyte. 2017;4:144–8
11. Sivayadevi P, Karthikeyan R, Anandan H. Congenital ichthyoses in pediatric age group: A prospective study Int J Sci Stud. 2017;4:143–5
12. Gånemo A. Quality of life in Swedish children with congenital ichthyosis Dermatol Reports. 2010;2:e7
13. Chernyshov PV, Jirakova A, Ho RC, Moed H, Caldeira AP, Alvarenga TM, et al An international multicenter study on quality of life and family quality of life in children with atopic dermatitis Indian J Dermatol Venereol Leprol. 2013;79:52–8
14. Marciniak J, Reich A, Szepietowski JC. Quality of life of parents of children with atopic dermatitis Acta Derm Venereol. 2017;97:711–4