- Email: [email protected]
The skin and its manifestations in the clinical history of children with Down's syndrome
Rev Med Int Sindr Down. 2011;15(2):23-25
international medical review on down’S syndrome
www.fcsd.org
www.elsevier.es/sd
CASE REPORT
The skin and its manifestations in the clinical history of children with Down’s syndrome M.D. Pozo Cano a,*, E. González Jiménez a, J. Álvarez Ferre b, E. Martínez García a and M.C. Navarro Jiménez a Department of Nursery, Faculty of Health Sciences, University of Granada, Granada, Spain Hospital Universitario San Rafael, Granada, Spain
a
b
Received on October 4, 2010; accepted on April 29, 2011
KEYWORDS Down’s syndrome; Children; Skin lesions
PALABRAS CLAVE Síndrome de Down; Niños; Lesiones cutáneas
Abstract Chromosomal disorders are not usually associated with specific alterations of the skin, with Down’s syndrome being an exception, because the skin of the newborn with this syndrome is soft, thin and delicate. It subsequently becomes coarser, drier and rougher, and generalised xerosis associated with keratosis pilaris is common. In the case of mucous membranes, macroglossia and scrotal tongue with protrusion and cleft lip are very common features. Premature aging of the skin and photosensitivity are common features in these patients. The following are among the most significant skin disorders: cutis marmorata, xerosis, palmoplantar hyperkeratosis, cheilitis, seborrhoeic dermatitis, folliculitis, tinea pedis, onychomycosis, crusted scabies (Norwegian scabies), atopic dermatitis, alopecia areata, vitiligo, psoriasis (severe form), pityriasis rubra pilaris, syringoma, elastosis perforans serpiginosa and cutis verticis gyrata. The aim of this study was to carry out a review of existing literature on major dermatological processes and their prevalence in the paediatric patient with Down’s syndrome. © 2011 Fundació Catalana Síndrome de Down. Published by Elsevier España, S.L. All rights reserved.
La piel y su expresión en la clínica del niño con síndrome de Down Resumen Los desórdenes cromosómicos normalmente no se encuentran asociados a alteraciones específicas de la piel, pero hay una excepción en el caso del síndrome de Down, ya que la piel del recién nacido con este síndrome es suave, delgada, delicada. Posteriormente se torna más gruesa, seca y áspera, y es común la presencia de xerosis generalizada asociada a queratosis pilar. En el caso de las mucosas, la macroglosia y la lengua escrotal,
* Corresponding author. E-mail: [email protected] (M.D. Pozo Cano). 1138-011X/$ - see front matter © 2011 Fundació Catalana Síndrome de Down. Published by Elsevier España, S.L. All rights reserved.
24
M.D. Pozo Cano et al con protrusión y fisura del labio inferior, resultan rasgos muy frecuentes. El envejecimiento temprano de la piel y la fotosensibilidad son características habituales en estos pacientes. Entre las alteraciones de la piel más considerables encontramos cutis marmorata, xerosis, hiperqueratosis palmoplantar, queilitis, dermatitis seborreica, foliculitis, tinea pedis, onicomicosis, sarna costrosa (sarna noruega), dermatitis atópica, alopecia areata, vitíligo, psoriasis (forma grave), pitiriasis rubra pilaris, siringoma, elastosis perforante serpiginosa y cutis verticis girata. El objetivo de este trabajo ha sido llevar a cabo una revisión de la bibliografía existente sobre los principales procesos dermatológicos y su prevalencia en el paciente pediátrico con síndrome de Down. © 2011 Fundació Catalana Síndrome de Down. Publicado por Elsevier España, S.L. Todos los derechos reservados.
Introduction Down’s syndrome (DS) is a chromosomal disorder which was first described by John Langdon Down in 1866.1 However, it was not until 1959 when Jerome Lejeune described one of the three possible chromosomal anomalies that caused this disorder: trisomy of chromosome 21.2 However, it is known that it can be caused by three types of anomalies: free trisomy of chromosome 21, chromosomal translocation, and mosaicism, the last one being the least common subtype. Free or regular trisomy of chromosome 21 is the most common form of Down’s syndrome and is responsible for 95% of cases.3,4 A woman is at greater risk of conceiving a child with Down’s syndrome the older she is.4 This is reflected in the incidence of this syndrome according to the different maternal ages. Thus, between the age of 15 and 29, the risk of having a child with Down’s syndrome is 1:1500 live births, between 30 and 34 years old 1:800, between 35 and 39 years old 1:270 and between 40 and 44 years old 1:100. In women over 45 years old, its incidence is even higher, 1 in every 50 live births.4 This statistic shows the importance and effect that the mother’s age has on the development of this disorder. From a clinical point of view, Down’s syndrome is a multisystemic pathological disorder given the high number of associated physiological alterations.5 Thus, paediatric patients with Down’s syndrome just as in adults may show a series of features and abnormalities in the internal organs.6 Among the most common it is worth highlighting are flat occiput and nasal bridge, upslanted palpebral fissures, excess skin at the nape of the neck, Brushfield spots (whitish-grey spots on the iris),7 brachydactyly (small hands and feet), single palmar crease, clinodactyly of the fifth finger, among others. These features, which are associated with a marked hypotonia and congenital cardiomyopathies, are found in 40% of cases and they are, therefore, considered as the main physical findings. Mental retardation is a constant in this type of patient.8 Other possible significant findings are duodenal atresia, frequent respiratory infections, thyroid disorders (hypothyroidism), as well as a considerable increase in the incidence of leukaemia.9 Puberty is generally delayed and is often not completed. It is important to mention that chromosomal disorders are not usually associated with specific skin conditions. However, in our case, Down’s
syndrome is an exception. The skin of a child with Down’s syndrome is soft, thin and delicate compared to the skin of a newborn baby without this syndrome and they may have features such as cutis marmorata and malar erythema.10 The skin becomes thicker, dryer and rougher during infancy and generalised xerosis associated with pilar keratosis is common. In the case of mucous membranes, macroglossia and scrotal tongue with protrusion and cleft lip are very common features. Premature aging of the skin and photosensitivity are common features.11 Abnormal cell-mediated and humoral immunity, seen essentially in a decrease in the number and function of the B and T lymphocytes, along with a deficient phagocytosis, causes infectious dermatological processes to appear and develop. The following are among the most significant skin disorders: cutis marmorata, xerosis, palmoplantar hyperkeratosis, cheilitis, seborrhoeic dermatitis, folliculitis, tinea pedis, onychomycosis, crusted scabies (Norwegian scabies), atopic dermatitis, alopecia areata, vitiligo, psoriasis (severe form), pityriasis rubra pilaris, syringoma, elastosis perforans serpiginosa and cutis verticis gyrata.12 There are few epidemiological research studies on skin conditions in DS.13
Objective The main objective to be developed in this study was to carry out a review of the existing literature of the main dermatological processes and their prevalence in paediatric patients with Down’s syndrome.
Material and methods In order to prepare this study we had to carry out a review of the clinical characteristics and frequency of the main skin conditions of 90 paediatric patients with Down’s syndrome. These were obtained from 50 scientific studies published in the last 4 years. It was a retrospective-descriptive study including a bibliographic search in Medline and Cochrane. We selected 48 articles from the last 4 years on skin conditions in children with Down’s syndrome. A detailed analysis was carried out to try and define the main clinical features described by the different authors.
The skin and its manifestations in the clinical history of children with Down’s syndrome 70 57,7
60 50
18,8
22,2
26,6
have been studied the least and as a result, are the least well-known. The absence of in-depth studies on these conditions means that new data desperately needs to be contributed in order to shed more light on existing studies. The results that we found in this review were compared with those from other studies and we found some differences, probably due to the methodological criteria and criteria used to select the sample.
11,1
Xerosis
Malar erythema
Mongolian spots
Palmoplantar hyperkeratosis
Cutis marmorata
Pilar keratosis
Café-au-lait spots
Nappy rash
Seborrhoeic dermatitis
Conclusion Atopic dermatitis
0
67,7
33,3
30
10
65,5
44,4
40
20
62,2
25
We believe that the data reported here will be useful to add to and expand upon existing knowledge as well as to improve the understanding of the special dermatological features that arise in children with Down’s syndrome.
Conflict of interests The authors affirm that they have no conflict of interests.
Xerosis Malar erythema Mongolian spots Palmoplantar hyperkeratosis Cutis marmorata
Pilar keratosis Café-au-lait spots Nappy rash Seborrhoeic dermatitis Atopic dermatitis
Figure 1 Main skin disorders and its prevalence in children with Down’s syndrome.
Results In accordance with the literature consulted, it is possible to reach the conclusion that the main lesions in terms of frequency and associated complications are the following: Xerosis, described in 61 subjects and with a prevalence of 67.7%. Another of the most prevalent skin complications was malar erythema, which was described in 59 cases, with a total prevalence of 65.5%. Mongolian spots were found in up to 56 cases. This represents 62.2% of skin disorders. Palmoplantar hyperkeratosis is another of the most prevalent skin disorders in these patients. It was described in 52 out of 90 patients assessed (57.7% of the cases). Cutis marmorata as a dermatological feature was found in up to 40 of the subjects studied, with a prevalence of 44.4%. Pilar keratosis was found in 30 out of the 90 patients (33.3%). Café-au-lait spots were found in 24 cases (26.6%). Nappy rash was also found in 22.2% of the cutaneous lesions and was present in 20 of the subjects studied. Seborrhoeic dermatitis was only found in 17 patients (18.8%) and atopic dermatitis in 10 patients (11.1%). The results are shown in figure 1.
Discussion From a clinical point of view, the dermatological symptoms associated with Down’s syndrome in paediatric patients
References 1. Dourmishev A, Miteva L, Mitev V, Pramatarov K, Schwartz RA. Cutaneous aspects of Down syndrome. Cutis. 2000;66:420-4. 2. Dutta S, Nandagopal K, Gangopadhyay PK, Mukhopadhyay K. Molecular aspects of Down syndrome. Indian Pediatr. 2005;2:339-44. 3. Barankin B, Guenther L. Dermatological manifestations of Down’s syndrome. J Cutan Med Surg. 2001;5:289-93. 4. Scherbenske JM, Benson PM, Rotchford JP, James WD. Cutaneous and ocular manifestations of Down syndrome. J Am Acad Dermatol. 1990;22:933-8. 5. Kersting DW, Rapaport IF. A clinicopathologic study of the skin in mongolism. Arch Dermatol. 1958;77:319-23. 6. Novice FM, Collison DW, Burgdorf WHC, Esterly NB. Handbook of Genetic Skin Disorders. Chromosome disorders. Philadelphia: WB Saunders Company; 1994. p. 627-30. 7. Barankin B, Guenter L. Dermatological manifestations of Down‘s syndrome. J Cutan Med Surg. 2001;5:289-93. 8. Schepis C, Romano C. Cutaneous findings in the mentally retarded. Int J Dermatol. 1996;35:317-22. 9. Hitzler J, Cheung J, Li Y, Scherer S, Zipursky A. GATA1 mutations in transient leukaemia and acute megakaryoblastic leukaemia of Down syndrome. Blood. 2003;101:4301-4. 10. Schepis C, Barone C, Siragusa M, Romano C. Prevalence of atopic dermatitis in patients with Down syndrome: a clinical survey. J Am Acad Dermatol. 1997;36:1019-21. 11. Polengui MM, Piattoni F, Orsini GB, Barcella MF, Gueli MR, Leuzzi S, et al. Dermatologic disorders in Down syndrome. Am J Med Genet Supplem. 1990;7:324-5. 12. Ercis M, Balci S, Atakan N. Dermatological manifestations of 71 Down syndrome children admitted to a clinical genetics unit. Clin Genet. 1996;50:317-20. 13. Schepis C, Barone C, Siragusa M, Pettinato R, Romano C. An update survey on skin conditions in Down syndrome. Dermatol. 2002;205:234-8.
international medical review on down’S syndrome
www.fcsd.org
www.elsevier.es/sd
CASE REPORT
The skin and its manifestations in the clinical history of children with Down’s syndrome M.D. Pozo Cano a,*, E. González Jiménez a, J. Álvarez Ferre b, E. Martínez García a and M.C. Navarro Jiménez a Department of Nursery, Faculty of Health Sciences, University of Granada, Granada, Spain Hospital Universitario San Rafael, Granada, Spain
a
b
Received on October 4, 2010; accepted on April 29, 2011
KEYWORDS Down’s syndrome; Children; Skin lesions
PALABRAS CLAVE Síndrome de Down; Niños; Lesiones cutáneas
Abstract Chromosomal disorders are not usually associated with specific alterations of the skin, with Down’s syndrome being an exception, because the skin of the newborn with this syndrome is soft, thin and delicate. It subsequently becomes coarser, drier and rougher, and generalised xerosis associated with keratosis pilaris is common. In the case of mucous membranes, macroglossia and scrotal tongue with protrusion and cleft lip are very common features. Premature aging of the skin and photosensitivity are common features in these patients. The following are among the most significant skin disorders: cutis marmorata, xerosis, palmoplantar hyperkeratosis, cheilitis, seborrhoeic dermatitis, folliculitis, tinea pedis, onychomycosis, crusted scabies (Norwegian scabies), atopic dermatitis, alopecia areata, vitiligo, psoriasis (severe form), pityriasis rubra pilaris, syringoma, elastosis perforans serpiginosa and cutis verticis gyrata. The aim of this study was to carry out a review of existing literature on major dermatological processes and their prevalence in the paediatric patient with Down’s syndrome. © 2011 Fundació Catalana Síndrome de Down. Published by Elsevier España, S.L. All rights reserved.
La piel y su expresión en la clínica del niño con síndrome de Down Resumen Los desórdenes cromosómicos normalmente no se encuentran asociados a alteraciones específicas de la piel, pero hay una excepción en el caso del síndrome de Down, ya que la piel del recién nacido con este síndrome es suave, delgada, delicada. Posteriormente se torna más gruesa, seca y áspera, y es común la presencia de xerosis generalizada asociada a queratosis pilar. En el caso de las mucosas, la macroglosia y la lengua escrotal,
* Corresponding author. E-mail: [email protected] (M.D. Pozo Cano). 1138-011X/$ - see front matter © 2011 Fundació Catalana Síndrome de Down. Published by Elsevier España, S.L. All rights reserved.
24
M.D. Pozo Cano et al con protrusión y fisura del labio inferior, resultan rasgos muy frecuentes. El envejecimiento temprano de la piel y la fotosensibilidad son características habituales en estos pacientes. Entre las alteraciones de la piel más considerables encontramos cutis marmorata, xerosis, hiperqueratosis palmoplantar, queilitis, dermatitis seborreica, foliculitis, tinea pedis, onicomicosis, sarna costrosa (sarna noruega), dermatitis atópica, alopecia areata, vitíligo, psoriasis (forma grave), pitiriasis rubra pilaris, siringoma, elastosis perforante serpiginosa y cutis verticis girata. El objetivo de este trabajo ha sido llevar a cabo una revisión de la bibliografía existente sobre los principales procesos dermatológicos y su prevalencia en el paciente pediátrico con síndrome de Down. © 2011 Fundació Catalana Síndrome de Down. Publicado por Elsevier España, S.L. Todos los derechos reservados.
Introduction Down’s syndrome (DS) is a chromosomal disorder which was first described by John Langdon Down in 1866.1 However, it was not until 1959 when Jerome Lejeune described one of the three possible chromosomal anomalies that caused this disorder: trisomy of chromosome 21.2 However, it is known that it can be caused by three types of anomalies: free trisomy of chromosome 21, chromosomal translocation, and mosaicism, the last one being the least common subtype. Free or regular trisomy of chromosome 21 is the most common form of Down’s syndrome and is responsible for 95% of cases.3,4 A woman is at greater risk of conceiving a child with Down’s syndrome the older she is.4 This is reflected in the incidence of this syndrome according to the different maternal ages. Thus, between the age of 15 and 29, the risk of having a child with Down’s syndrome is 1:1500 live births, between 30 and 34 years old 1:800, between 35 and 39 years old 1:270 and between 40 and 44 years old 1:100. In women over 45 years old, its incidence is even higher, 1 in every 50 live births.4 This statistic shows the importance and effect that the mother’s age has on the development of this disorder. From a clinical point of view, Down’s syndrome is a multisystemic pathological disorder given the high number of associated physiological alterations.5 Thus, paediatric patients with Down’s syndrome just as in adults may show a series of features and abnormalities in the internal organs.6 Among the most common it is worth highlighting are flat occiput and nasal bridge, upslanted palpebral fissures, excess skin at the nape of the neck, Brushfield spots (whitish-grey spots on the iris),7 brachydactyly (small hands and feet), single palmar crease, clinodactyly of the fifth finger, among others. These features, which are associated with a marked hypotonia and congenital cardiomyopathies, are found in 40% of cases and they are, therefore, considered as the main physical findings. Mental retardation is a constant in this type of patient.8 Other possible significant findings are duodenal atresia, frequent respiratory infections, thyroid disorders (hypothyroidism), as well as a considerable increase in the incidence of leukaemia.9 Puberty is generally delayed and is often not completed. It is important to mention that chromosomal disorders are not usually associated with specific skin conditions. However, in our case, Down’s
syndrome is an exception. The skin of a child with Down’s syndrome is soft, thin and delicate compared to the skin of a newborn baby without this syndrome and they may have features such as cutis marmorata and malar erythema.10 The skin becomes thicker, dryer and rougher during infancy and generalised xerosis associated with pilar keratosis is common. In the case of mucous membranes, macroglossia and scrotal tongue with protrusion and cleft lip are very common features. Premature aging of the skin and photosensitivity are common features.11 Abnormal cell-mediated and humoral immunity, seen essentially in a decrease in the number and function of the B and T lymphocytes, along with a deficient phagocytosis, causes infectious dermatological processes to appear and develop. The following are among the most significant skin disorders: cutis marmorata, xerosis, palmoplantar hyperkeratosis, cheilitis, seborrhoeic dermatitis, folliculitis, tinea pedis, onychomycosis, crusted scabies (Norwegian scabies), atopic dermatitis, alopecia areata, vitiligo, psoriasis (severe form), pityriasis rubra pilaris, syringoma, elastosis perforans serpiginosa and cutis verticis gyrata.12 There are few epidemiological research studies on skin conditions in DS.13
Objective The main objective to be developed in this study was to carry out a review of the existing literature of the main dermatological processes and their prevalence in paediatric patients with Down’s syndrome.
Material and methods In order to prepare this study we had to carry out a review of the clinical characteristics and frequency of the main skin conditions of 90 paediatric patients with Down’s syndrome. These were obtained from 50 scientific studies published in the last 4 years. It was a retrospective-descriptive study including a bibliographic search in Medline and Cochrane. We selected 48 articles from the last 4 years on skin conditions in children with Down’s syndrome. A detailed analysis was carried out to try and define the main clinical features described by the different authors.
The skin and its manifestations in the clinical history of children with Down’s syndrome 70 57,7
60 50
18,8
22,2
26,6
have been studied the least and as a result, are the least well-known. The absence of in-depth studies on these conditions means that new data desperately needs to be contributed in order to shed more light on existing studies. The results that we found in this review were compared with those from other studies and we found some differences, probably due to the methodological criteria and criteria used to select the sample.
11,1
Xerosis
Malar erythema
Mongolian spots
Palmoplantar hyperkeratosis
Cutis marmorata
Pilar keratosis
Café-au-lait spots
Nappy rash
Seborrhoeic dermatitis
Conclusion Atopic dermatitis
0
67,7
33,3
30
10
65,5
44,4
40
20
62,2
25
We believe that the data reported here will be useful to add to and expand upon existing knowledge as well as to improve the understanding of the special dermatological features that arise in children with Down’s syndrome.
Conflict of interests The authors affirm that they have no conflict of interests.
Xerosis Malar erythema Mongolian spots Palmoplantar hyperkeratosis Cutis marmorata
Pilar keratosis Café-au-lait spots Nappy rash Seborrhoeic dermatitis Atopic dermatitis
Figure 1 Main skin disorders and its prevalence in children with Down’s syndrome.
Results In accordance with the literature consulted, it is possible to reach the conclusion that the main lesions in terms of frequency and associated complications are the following: Xerosis, described in 61 subjects and with a prevalence of 67.7%. Another of the most prevalent skin complications was malar erythema, which was described in 59 cases, with a total prevalence of 65.5%. Mongolian spots were found in up to 56 cases. This represents 62.2% of skin disorders. Palmoplantar hyperkeratosis is another of the most prevalent skin disorders in these patients. It was described in 52 out of 90 patients assessed (57.7% of the cases). Cutis marmorata as a dermatological feature was found in up to 40 of the subjects studied, with a prevalence of 44.4%. Pilar keratosis was found in 30 out of the 90 patients (33.3%). Café-au-lait spots were found in 24 cases (26.6%). Nappy rash was also found in 22.2% of the cutaneous lesions and was present in 20 of the subjects studied. Seborrhoeic dermatitis was only found in 17 patients (18.8%) and atopic dermatitis in 10 patients (11.1%). The results are shown in figure 1.
Discussion From a clinical point of view, the dermatological symptoms associated with Down’s syndrome in paediatric patients
References 1. Dourmishev A, Miteva L, Mitev V, Pramatarov K, Schwartz RA. Cutaneous aspects of Down syndrome. Cutis. 2000;66:420-4. 2. Dutta S, Nandagopal K, Gangopadhyay PK, Mukhopadhyay K. Molecular aspects of Down syndrome. Indian Pediatr. 2005;2:339-44. 3. Barankin B, Guenther L. Dermatological manifestations of Down’s syndrome. J Cutan Med Surg. 2001;5:289-93. 4. Scherbenske JM, Benson PM, Rotchford JP, James WD. Cutaneous and ocular manifestations of Down syndrome. J Am Acad Dermatol. 1990;22:933-8. 5. Kersting DW, Rapaport IF. A clinicopathologic study of the skin in mongolism. Arch Dermatol. 1958;77:319-23. 6. Novice FM, Collison DW, Burgdorf WHC, Esterly NB. Handbook of Genetic Skin Disorders. Chromosome disorders. Philadelphia: WB Saunders Company; 1994. p. 627-30. 7. Barankin B, Guenter L. Dermatological manifestations of Down‘s syndrome. J Cutan Med Surg. 2001;5:289-93. 8. Schepis C, Romano C. Cutaneous findings in the mentally retarded. Int J Dermatol. 1996;35:317-22. 9. Hitzler J, Cheung J, Li Y, Scherer S, Zipursky A. GATA1 mutations in transient leukaemia and acute megakaryoblastic leukaemia of Down syndrome. Blood. 2003;101:4301-4. 10. Schepis C, Barone C, Siragusa M, Romano C. Prevalence of atopic dermatitis in patients with Down syndrome: a clinical survey. J Am Acad Dermatol. 1997;36:1019-21. 11. Polengui MM, Piattoni F, Orsini GB, Barcella MF, Gueli MR, Leuzzi S, et al. Dermatologic disorders in Down syndrome. Am J Med Genet Supplem. 1990;7:324-5. 12. Ercis M, Balci S, Atakan N. Dermatological manifestations of 71 Down syndrome children admitted to a clinical genetics unit. Clin Genet. 1996;50:317-20. 13. Schepis C, Barone C, Siragusa M, Pettinato R, Romano C. An update survey on skin conditions in Down syndrome. Dermatol. 2002;205:234-8.