Mucocutaneous Disorders in Children with Down Syndrome: Case-Controlled Study

By Bilgili, S. Gunes; Akdeniz, N. et al. | Genetic Counseling, October 1, 2011 | Go to article overview

Mucocutaneous Disorders in Children with Down Syndrome: Case-Controlled Study


Bilgili, S. Gunes, Akdeniz, N., Karadag, A. S., Akbayram, S., Calka, O., Ozkol, H. Uce, Genetic Counseling


Summary: Mucocutaneous disorders in children with Down syndrome: case controlled study: Objective: Down's syndrome is the most frequent chromosomal anomaly that can affect a multiple organ systems, including skin. In this study, we compared the frequency of mucocutaneous disorders in children with Down's syndrome with normal children. Methods: We recruited fifty children with Down's syndrome and 50 healthy children as a control in our study. Mucocutaneous abnormalities were examined in both groups. Findings: Of 50 patients, 22 were girls and 28 were boys. The skin findings such as xerosis and Mongolian spots were the most frequently seen in the patients with Down's syndrome. Seborrheic dermatitis, cheilitis and fissured tongue were seen frequently, as well. The rare findings were plantar hyperkeratosis, alopecia areata, geographic tongue, café-au-lait macula, livedo reticularis, cutaneous infections, pityriasis capitis simplex, cutis marmorata, neurotic excoriation, trichotillomania, keratosis pilaris and diaper dermatitis. No mucocutaneous finding was seen in 16 patients. The prevalence of the skin disorders including Mongolian spot, seborrheic dermatitis, cheilitis, fissured tongue was significantly higher in patients with Down syndrome than normal individuals (p<0.05). Conclusion: Therefore, large-scaled epidemiological studies covering the entire population are needed. We believe that these studies could provide better understanding the dermatological diseases in children with Down's syndrome that would help to practitioners to treat these problems.

Key-words: Down's Syndrome - Mucocutaneous manifestations - Child - Skin diseases.

INTRODUCTION

Down's syndrome is the first recognized and the most frequently encountered chromosomal disease among genetic disorders. The condition is a chromosomal disorder caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, British physician, who first described the syndrome in 1865. The disorder was identified as a chromosome 21 trisomy by Lejeune in 1959 (1, 5). The condition is characterized by a combination of major and minor differences in structure, but skin involvement has not been adequately assessed due to its unimportant nature when compared with vital organs involvements (1, 3, 6). There are many cases reported in the literature related with the disorder (4, 8, 9), but few studies have been published. In this study, we compared the frequency of mucocutaneous findings in children with Down's syndrome with normal children.

METHOD

We recruited fifty children with Down syndrome who applied to our pediatric and dermatology clinic and 50 healthy with similar age and sex as a control. Down syndrome was diagnosed based on the clinical stigma. In some cases, Down syndrome was confirmed cytogenetically. Fifty healthy children, who did not have any mental and motor retardation, were recruited as a control group from the pediatric and dermatology clinics. Patients' age, sex, and skin findings were recorded. The patients were grouped into four categories: 1)0-12 months group, 2) 13-24 months group, 3) 25-60 months group and 4) 5-11 years group. Dermatological examination was diligently performed for mucocutanous disorders. A total of 17 dermatoses were recorded.

The statistic analysis of the findings was done with numbers and percentages. The ratio differences in frequencies of skin lesions between two groups were done with z-test and Fischer's exact probability test. Probability (p) value was considered statistically not significant if > 0.05, significant if <0.05.

RESULTS

Fifty patients with Down syndrome were examined. Twenty two of 50 patients (44 %) were girls and 28 were boys (56 %). Their mean age was 26 months, range 15 days-11 years. The majority patients (56 %) were between the age of 0-1 years. The distributions according to gender of patients are listed in Table I.

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