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 Table of Contents  
ORIGINAL ARTICLE
Year : 2020  |  Volume : 33  |  Issue : 3  |  Page : 1007-1010

Mucocutaneous findings in down syndrome


1 Department of Dermatology, Andrology and STDs, Faculty of Medicine, Menoufia University, Menoufia, Egypt
2 Department of Dermatology, Ministry of Health, Menoufia, Egypt

Date of Submission16-Dec-2018
Date of Decision20-Jan-2019
Date of Acceptance26-Jan-2019
Date of Web Publication30-Sep-2020

Correspondence Address:
Menan S. A.. Alghobashy
Shebin El-Kom, Menoufia
Egypt
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/mmj.mmj_405_18

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  Abstract 


Objective
To study and evaluate the dermatological signs found in patients with Down syndrome (DS).
Background
The dermatological signs found in patients with DS have been less clear and infrequently studied and must be completely elucidated.
Patients and methods
This cross-sectional study included 50 patients with DS confirmed clinically. The sample comprised 28 boys and 22 girls. Their ages ranged between 1 and 40 years. We separated the sample into five age groups: 0–5 years, 14 patients; 6–10 years, 22 patients; 11–15 years, eight patients; and older than 16 years, 6 patients.
Results
Seborrheic dermatitis was the most frequent sign in our study with frequency of 65% followed correspondingly by xerosis, 42%; fissured tongue, 30%; palmoplantar hyperkeratosis, 24%; macroglossia, 20%; and syringomas, 12%. Cheilitis, keratosis pilaris, and premature hair graying had the same overall frequency in the present study, which was 8%. Atopic dermatitis, vitiligo, and geographic tongue had the same overall frequency, which was 6%. Acanthosis nigricans and scabies had the same overall frequency, which was 4%. Skin tags, freckles, trichotillomania, alopecia areata, and acne keloidalis nuchae had 2% overall frequency.
Conclusion
In conclusion, the lower prevalence of atopic dermatitis in our series was in concordance with its low prevalence reported in recent articles. Improved hygiene owing to patient care at home may underlie the absence of infections among our children. Mucocutaneous findings are commonly seen in DS, although they are usually not serious.

Keywords: acanthosis nigricans, alopecia areata, atopic dermatitis, cheilitis, Down syndrome, scabies, seborrheic dermatitis, trichotillomania, xerosis


How to cite this article:
Gaber MA, Alghobashy MS. Mucocutaneous findings in down syndrome. Menoufia Med J 2020;33:1007-10

How to cite this URL:
Gaber MA, Alghobashy MS. Mucocutaneous findings in down syndrome. Menoufia Med J [serial online] 2020 [cited 2020 Nov 26];33:1007-10. Available from: http://www.mmj.eg.net/text.asp?2020/33/3/1007/296688




  Introduction Top


Down's syndrome (DS) is the oldest and most identifiable cause of congenital developmental disability. It is named after John Langdon Down, the British doctor who first described it in 1866. The condition is characterized by a combination of major and minor differences in body structure. DS is associated with some impairment of cognitive ability and physical growth as well as facial appearance. DS is usually identified at birth [1].

It took more than 70 years to determine the cause of DS since it had been characterized. Jerome Lejeune, a French scientist, first announced the cause as a third copy of chromosome 21 in 1959. Children with DS have multiple malformations and mental retardation as a result of the presence of such extragenetic material from chromosome 21 [2].

People with DS still face many challenges, both from their condition itself and from the prejudice they still face in our society [3].

Therefore, we targeted today's study as an attempt to relieve even a small part of the burden placed on those individuals who were unlucky enough to have such an extra chromosome. The aim of this study was to study and evaluate the dermatological signs found in patients with DS.


  Patients and Methods Top


The study was approved by Ethical Committee of Menoufia Faculty of Medicine, and written informed consent with justification about the reason, methods, and results was obtained from participants' families. This cross-sectional study was conducted on 50 patients with DS attending a school for children with special educational needs. Others have been examined during their visit to Genetics Unit, Pediatric Department, Phonetics Clinic Menoufia University, Dermatology Clinic and Physiotherapy Department at Shebin El-Kom Teaching Hospital, during the period from January 2017 to April 2018. The patients were divided into four groups regarding the age: infancy and early childhood 0–5 years, middle childhood 6–10 years, adolescence 11–15 years, and adulthood more than 16 years.

Inclusion criteria were being Egyptian, age between 1 and 40 years, and having fulfilled the criteria of DS clinically.

Exclusion criteria were those not confirmed clinically to have DS.

All patients underwent general examination with focus on complete dermatological examination to determine the extent and distribution of positive signs.

Statistical analysis

The gathered data were structured, tabulated, and statistically examined using SPSS software (statistical package for the social sciences, version 19; SPSS Inc., Chicago, Illinois, USA) on IBM compatible computer.

Descriptive data were calculated for the statistical analysis in the form of frequency and distribution for qualitative data.

Analytical statistics was used in the statistical comparison between different groups, and the significance of difference was calculated using one of the following tests.

  1. Intergroup comparison of categorical data was performed by using χ2 test. Qualitative data were expressed as number and percentage and analyzed by applying χ2 test
  2. Fisher's exact test was used instead whenever the expected values in one or more of the cells in a 2 × 2 tables was less than 5.


A P value less than 0.05 was considered statistically significant (S) in all analyses.


  Results Top


Seborrheic dermatitis ruled out to be the most frequent dermatologic sign among patients in our study with frequency of 65% within the third age group (11–15 years) followed by the second group (6–10 years) [Table 1] and [Figure 1]. Statistically, P value (P = 0.916) indicated nonsignificant correlation between age and incidence of seborrheic dermatitis. This was followed by the following signs: xerosis 42%, fissured tongue 30%, palmoplantar hyperkeratosis 24%, macroglossia 20%, and syringomas 12%. Cheilitis, keratosis pilaris, and premature hair graying had the same overall frequency in the present study at 8%. Atopic dermatitis, vitiligo, and geographic tongue had the same overall frequency at 6%. Acanthosis nigricans and scabies had the same overall frequency at 4%. Skin tags, freckles, trichotillomania, alopecia areata, and acne keloidalis nuchae had 2% overall frequency. Owing to the fact that other previous studies showed a trend to demonstrate that some skin conditions show an age-related occurrence, we made a comparison between age groups regarding sex, as shown in [Table 2] and [Figure 2], which demonstrated a trend toward association between male sex and signs occurrence, although this did not meet statistical significance (P = 0.969), and a comparison between age groups regarding signs in each age group, as shown in [Table 3] and [Figure 3]. The incidence of each sign demonstrated in this study and the 95% two-sided confidence interval of expected incidence were calculated as well as the incidence of proportion (the number of DS cases that have abnormal signs/total number of Down cases), which was not the incidence rate.
Table 1: Seborrheic dermatitis among the dermatologic signs

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Figure 1: Incidence of seborrheic dermatitis among different age groups.

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Table 2: Comparison between age groups regarding sex

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Figure 2: Comparison between age groups regarding sex.

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Table 3: Comparison between age groups regarding signs in each age group

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Figure 3: Comparison between age groups regarding signs in each age group.

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  Discussion Top


Many reports on skin conditions in people with DS exist in the medical literature. Until 2002, there have been only three surveys on skin conditions in the people with DS published so far [4].

Our study reports seborrheic dermatitis to be the most frequent dermatologic sign with overall frequency of 65%, mostly within the third age group (11–15 years) followed by the second group (6–10 years). In comparison with other studies, Carter and Jegasothy [5] found an incidence of 36%, mostly in adult life. This was much similar to the 31% prevalence found by Ercis et al. [6], mostly during first years of life. This is in contrast to only 3% prevalence according to a study performed in Razi Hospital, Tehran University of Medical Sciences [7].

Xerosis was found to be the second most frequent finding with overall frequency of 42%, which is higher in comparison with other studies, with frequency of 12% in Tehran University study [7] and 9.8% in the study by Ercis et al. [6]. The study performed by Schepis et al. [4] showed increased tendency with age, which is in contrast to our study, which showed decreased tendency with age.

Fissured tongue was found to be the third most frequent appearance, with overall frequency of 30%. In a Tehran study, fissured tongue ruled out to be the most frequent finding with overall frequency of 28% [7]. In a study by Zeligman and Scalia [8] in 1954, the incidence of this finding among patients with DS was 95%. The frequency of fissured tongue in the general population varies from 2 to 5% [9]. Palmoplantar hyperkeratosis ruled out to be the fourth frequent finding with overall frequency of 24% according to ours, compared with only 10% overall frequency according to Tehran University study [7], especially within 5–15 years age group.

Macroglossia was found to be the fifth most frequent with overall frequency of 20%.

According to the results published by Al-Aama et al. [10], macroglossia with low underlying tone of pharyngeal muscles was detected in 8.9% of patients included in their study, which led to breathing difficulties. A study done by Mitchel et al. [11] reported that 26% of the patients with DS have upper airway obstruction secondary to macroglossia. Syringomas are more common in patients with DS [12]. Its frequency was 12%, representing the sixth most frequent according to our results. A figure of 11% with a female to male ratio of 2: 1 was reported by Butterworth et al. [13]. Cheilitis, keratosis pilaris, and premature hair graying occupied the seventh rank in our study, with equal frequency of 8%.

Scully et al. [14] found lip fissures in 27% and angular cheilitis in 25% of 77 patients with DS compared with 0.6% in the general population.

Keratosis pilaris also has a well-known association with DS. When compared with other studies, Schepis et al. [4] reported 2.3% incidence, with 24 of 203 affected in one series. Ercis et al. [6] reported 2.8%.

Atopic dermatitis, vitiligo, and geographic tongue were reported to be the eighth most frequent conditions. Geographic tongue had an overall frequency of 6%. A 4% frequency was observed in a Tehran University study in 5–15 years old group with female:male ratio of 3: 1 [7]. An 11.2% incidence was observed in the study by Ercis et al. [6].

According to our study, atopic dermatitis had an overall frequency of 6%, with only three patients; all were within the youngest age groups: two within 0–5 years age group, and one within 5–10 years age group. A prevalence of more than 50% was noted by Scherbenske et al. [15]. Baccichetti et al. [16] similarly found AD in 35 of 102 patients with DS living in north east Italy.

Vitiligo represented 6% overall frequency according to our results. Three patients were affected: one within 0–5 age group and two above 16 years.

Carter and Jegasothy, in their series, found a 1.9% prevalence of vitiligo. Three of their four patients with vitiligo also had alopecia areata. We have not recognized such co-incidence. The present study included two patients with scabies and two with acanthosis nigricans; all were above 16 years. Finally, alopecia areata was observed in only one patient who was 17 years old and had multiple lesions in the scalp. In the Tehran University study, alopecia areata was seen in 11% of children. Lesions were patchy in all but one of them had alopecia totalis, where only the scalp was involved [7].

We recorded freckles positive in only one male aged 18 years old. Other studies have not reported such sign. We reported only one case with acne keloidalis nuchae. His age was 40 years. He had cataract as well.


  Conclusion Top


DS shows increased frequency of some common dermatoses. Atopic dermatitis is one of the most frequent skin diseases associated with DS. Some immunologic skin diseases, as vitiligo and alopecia areata, have been reported with high incidence in DS. Other miscellaneous cutaneous lesions were probably coincidentally seen in every study.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

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Roizen NJ, Patterson D. Down's syndrome. Lancet. 2003; 361:1281–1289.  Back to cited text no. 1
    
2.
Seashore MR. Health supervision for children with Down syndrome. Pediatrics 1994; 93:855–859.  Back to cited text no. 2
    
3.
Ali A., Hassiotis A., Strydom A., King M. Self-stigma in people with intellectual disabilities and courtesy stigma in family carers: a systematic review. Res Dev Disabil 2012; 33:2122–2140.  Back to cited text no. 3
    
4.
Schepis C, Barone C, Siragusa M. An updated survey on skin conditions in Down syndrome. Dermatology 2002; 205:234–238.  Back to cited text no. 4
    
5.
Carter DM, Jegasothy BV. Alopecia areata and Down syndrome. Arch Dermatol 1976; 112:1397–1399.  Back to cited text no. 5
    
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Ercis M, Balci S, Atakan N. Dermatological manifestations of 71 Down syndrome children admitted to a clinical genetics unit. Clin Genet 1996; 50:317–320.  Back to cited text no. 6
    
7.
Daneshpazhooh M, Mohammad-Javad Nazemi T, Bigdeloo L, Yoosefi M. Narrow-band UVB in the treatment of early stage mycosis fungoides: report of 16 patients. Tehran, Iran: Department of dermatology, razi hospital, tehran university of medical sciences; 2005.  Back to cited text no. 7
    
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Zeligman I, Scalia SP. Dermatologic manifestations of mongolism. AMA Arch Dermatol Syphil 1954; 69:342–344.  Back to cited text no. 8
    
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Barankin B, Guenther L. Dermatologic manifestations of Down's syndrome. J Cutan Med Surg 2001; 5:289–293.  Back to cited text no. 9
    
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Al-Aama JY, Alem Ashraf H, El-Harouni A. Otolaryngological issues in Down syndrome patients from western region of Saudi Arabia. Life Sci J 2014; 11:1.  Back to cited text no. 10
    
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Mitchel R, Call E, Kelly J. Diagnosis and therapy for airway obstruction in children with Down syndrome. Arch Otolarngol Head Neck Surg 2003; 129:642–645.  Back to cited text no. 11
    
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Togawa Y, Nohira G, Shinkai H. Collagenoma in Down syndrome. Br J Dermatol 2003; 148:596–597.  Back to cited text no. 12
    
13.
Butterworth T, Leoni EP, Beerman H. Cheilitis of mongolism. J Invest Dermatol 1960; 35:347–352.  Back to cited text no. 13
    
14.
Scully C, van Bruggen W, Diz Dios P. Down syndrome: lip lesions (angular stomatitis and fissures) and Candida albicans. Br J Dermatol. 2002; 147:37–40.  Back to cited text no. 14
    
15.
Scherbenske JM, Benson PM, Rotchford JP. Cutaneous and ocular manifestations of Down syndrome. J Am Acad Dermatol 1990; 22:933–938.  Back to cited text no. 15
    
16.
Baccichetti C, Lenzini E, Pegoraro R. Down syndrome in the Belluno district (Veneto region, northeast Italy). Age distribution and morbidity. Am J Med Genet 1990; 7:84–86.  Back to cited text no. 16
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]
 
 
    Tables

  [Table 1], [Table 2], [Table 3]



 

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