الفهرس 
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Abstract
Genodermatoses are a large groupof multisystem inherited disorders in which skin manifestations are the clue for diagnosis. Many researches have investigatedthe effect of skin disorders on the Quality of Life (QOL) of patients. This is one of the fewest studies about different genodermatoses in the middle east and Egypt.
Aim of the work: elucidating systematic approach to diagnose and assess the severity of three of the most common non-syndromic hereditary skin disorders (e.g. NF1, Ichthyosis and XP) in addition to assessment of the quality of life (QoL) of patients suffering from these disorders in relation to the type and severity of the skin diseases to shed light on their physical, psychological, academic and social needs in future rehabilitation plans.
Methodology: This is a cross-sectional, Case-Control Study in which 60 genodermatoses patients attending the genodermatoses clinic in the National Research Centre (NRC) and 60 age and sex matched healthy controls were included. After approval of the ethical committee of the Faculty of Childhood Postgraduate studies and NRC (15520) and obtaining an informed consent from the patients or their legal guardians; both genders, 4-18 years old, diagnosed as NF1, XP, CNSI were included. Patients with other criteria were excluded.
• -Detailed history was taken. At least a three-generation pedigree was constructed and analyzed. Thorough clinical examination was done including the essential anthropometrics measurements.X-ray was requested for skeletal deformities and MRI brain for screening for brain tumors
• -Clinical diagnosis and severity scoring was done to NF1 patients according to Riccardi Scale 1977, XP patientsaccording to Norgauer et al., 2003 and Ichthyosis patients according to Serup, 2009.
• -Quality of life assessment was done using: - the Arabic version of PedsQL 0.4 Inventory by Varni 1998 as a generic HRQOL, it consists of 23 questions about 4 domains of life: Physical, school, emotional and social domains. The higher the score of the patient the better is the QOL
-The arabic version of the CDQL by lewis-Jones and Finlay 1993 as a skin-specific QOL assessment too it consists of 10 questions tackeling 6 domains;symptoms and feelings , leisure , school or holidays, personal relationships , sleep and treatment. The higher the score the wrse QOL of the patient.
• -The Anxiety Inventory translated and revised by El-Belbawy (1987)was used for assessing the degree of anxiety among patients.
All statistical calculations were done using computer program IBM SPSS (Statistical Package for the Social Science; IBM Corp, Armonk, NY, USA) release for Microsoft Window
Results:Using PEDSQL; our results show high affection of total scores of QOL of the included genodermatoses patients compared to the control group (P<0.05). All domains were significantly affected (P< 0.05) except for the physical domain.There was significant difference in the emotional and school activity domain (P value< 0.05) and a highly significant difference in the social domain (P value <0.001). Almost similar PEDSQL scores were reported by the patients and their parents except for the social domain (lower social quality of life reported by patients).
Patients’ CDLQ scores showed the following results: XP patients showed the highest affection of the total QOL followed by Ichthyosis with no significant difference .
Ichthyosis patients showed the highest QOL affection in the emotional and symptoms, social life, treatment and sleeping domains. Emotional and sleeping showed highly significant difference (P value <0.001)
In the school domain, both NSCI and XP patients showed similar QOL affection (Median=66.7). XP patients showed the highest affection of the total QOL especially leisure domain.In general, NF1 patients showed the least QOL affection in our studied groups.
PEDSQL scores showed negative correlation to those of CDQL confirming previous studied about the feasibility of using PEDSQL for measuring general QOL of genodermatoses patients.
Anxiety inventory showed high anxiety scores that increased with the severity of the disease among our studied groups
Conclusion: Children with genodermatoses need serious efforts from clinical dermatologists and psychiatrists to improve QOL.Ichthyosis affected emotional and symptoms, social, school, treatment and sleeping domains. XP mainly affected social and school domains while NF1showed minimal affection QOL affection and anxiety were positively correlated to the severity of clinical picture. This draws attention to the importance of follow up QOL assessment through different stages of life to adjust the management plans of patients. Cultural effect was shown in case of veiled females where skin signs were less visible accordingly decreasing the effect on social aspects and bullying. We hereby emphasis the importance of QOL questionnaires for better understanding of the effect of genodermatoses and offering better counseling for patients.