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Dermatologic Manifestations of Down Syndrome

  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Jun 08, 2016
 

Overview

Down syndrome has typical physical features and multisystem anomalies, some of which are dermatologic. The skin lesions in this syndrome were noted by Seguin (1846), who spoke of d'idiots furfuraces. Certain dermatoglyphic features in Down syndrome that differed from control subjects were pointed out in 1939. In 1959, a chromosomal abnormality was proven to cause Down syndrome.[1]

Cutaneous manifestations of Down syndrome include the following:

  • Soft and velvety skin in early childhood
  • Dry skin in late childhood - Xerosis (70%), atopic dermatitis (50%), palmoplantar hyperkeratosis (40-75%), and seborrheic dermatitis (31%)
  • Premature wrinkling of the skin, cutis marmorata, and acrocyanosis
  • Bacteria infections, fungal infections (tinea), and ectoparasitism (scabies)
  • Elastosis perforans serpiginosa [2]
  • Syringomas
  • Alopecia areata (6-8.9%)
  • Vitiligo
  • Angular cheilitis

The dermatologic problems and bacterial infections must be treated with appropriate medicines.

The image below depicts characteristic features in a patient with Down syndrome.

Characteristic flat facies with hypertelorism, dep Characteristic flat facies with hypertelorism, depressed nasal bridge, protrusion of the tongue, and a single, palmar, simian crease in a 2-year-old girl with Down syndrome. Courtesy of L. Dourmishev, MD, PhD, DSc.

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Clinical Evaluation

In an Iranian study of 100 children with Down syndrome, skin or mucosal findings were noted in 61. These included fissured tongue 28%, geographic tongue 4%, hypertrophy of tongue papilla 22%, cheilitis 13%, premature graying 14%, alopecia areata 11%, keratosis pilaris 4%, trichotillomania 4%, xerosis 12%, palmoplantar hyperkeratosis 10%, seborrheic dermatitis 3%, syringoma 6%, vitiligo 3%, and livedo reticularis in 2% of the patients.[3] Note that atopic dermatitis is uncommon is this particular population.

Hand and feet assessment

Analysis of fingerprints can be of value in selecting patients for cytogenetic analysis. Specifically, children with Down syndrome have a high incidence of loops and a low incidence of whorls.[4] The most common digital pattern combination in trisomy 21 is 10 ulnar loops in the hypothenar eminence of the palms. A radial loop on the fifth finger occurs in 4% of patients with Down syndrome and only in 0.3% of control subjects.

The presence of a Mongolian crease is also commonly associated with Down syndrome, and an arch tibial (At) pattern in the hallucal area of the soles occurs in 50% of patients with Down syndrome and only in 0.3% of control subjects.

Dermatologic assessment

The skin ages prematurely, showing lentigines and atrophy. Xerosis, atopic dermatitis, secondary lichenification, seborrheic dermatitis, and ichthyosiform changes are more frequent in childhood. Children with Down syndrome have dry skin in early childhood. By age 15 years, more than 70% show generalized xerosis of a mild to moderate degree.

Atopic dermatitis is present in more than 50% of patients in childhood. Its course is often complicated by lichenification and impetiginization, most likely caused by an increased susceptibility to infections.

Patchy lichenification is present in approximately 30% of patients younger than 10 years and in more than 80% of patients older than 20 years. This condition resembles lichen simplex and usually occurs on the upper arms, the wrists, the anterior part of the thighs, the posterior part of the auricles, and the posterior part of the neck. Seborrheic dermatitis and ichthyosiform changes have also been described.

Palmoplantar hyperkeratosis is not seen before the age of 5 months, but its incidence rises to 75% in children aged 5 years and older with normal vitamin A levels. A transverse palmar crease (simian crease) is seen in 40-50% of these patients, as shown in the image below.

A palmar, simian crease in a patient with Down syn A palmar, simian crease in a patient with Down syndrome. Courtesy of L. Dourmishev, MD, PhD, DSc.

Psoriasis runs a normal course in patients with Down syndrome, although a widespread, extremely hyperkeratotic form with lesions in unusual sites is observed.

Calcinosis cutis associated with milia like syringomas is observed in patients with Down syndrome with transepithelial elimination of calcium from tumors.

Unusual forms of elastosis perforans serpiginosa are noted in patients with Down syndrome. The onset of skin lesions is during the second decade of life. Both sexes are affected, with an increased prevalence in males. The male-to-female ratio is 4:1. Cutaneous lesions are more extensive, and the duration of the condition is longer, 10 years or more versus 5 years in the idiopathic type. Keratotic papules often coalescence to form an arcuate or serpiginous pattern. Lesions heal with atrophic scars.

A variety of bacterial infections, fungi, or ectoparasite infestations afflict patients with Down syndrome. Cutaneous bacterial infections (eg, angular cheilitis, folliculitis, furuncles, abscesses, secondary impetigo) are common in patients with or without atopic dermatitis. Bacterial infections in Down syndrome with Staphylococcus aureus infections resemble those of other patient groups, although with a higher incidence of ear infections.[5]

Dermatophytic infections frequently occur in postpubertal patients with Down syndrome who are institutionalized. The high prevalence of tinea pedis (>50%) and an increased incidence of severe onychomycosis in young adults result from communal living.

Pityrosporum folliculitis, a chronic persistent erythematous follicular papular eruption affecting the presternal and infrascapular region, is found in about 50% of men aged 20-40 years with Down syndrome, but it is uncommon in women with Down syndrome.

Children with Down syndrome are predisposed to the development of crusted (Norwegian) scabies.[6] The reasons for this propensity are unclear. Patients have generalized erosions, scaling, and hyperkeratotic crusted plaques, especially on the flexural aspects of the wrists, the buttocks, and the sacrum. Nails are deformed, with marked subungual hyperkeratosis. Patients have an immunologic dysfunction; the cause is related to a poor cutaneous sensation, leading to a diminished likelihood of mites being mechanically removed.

Oral assessment

Oral lesions of Down syndrome (fissured and geographic tongue, macroglossia, juvenile periodontitis) are frequent manifestations of the disease. Fissuring and thickening of the lips and angular cheilitis are frequent and increase in incidence and severity with age. Cheilitis occurs with greater frequency in children with Down syndrome than in unaffected persons. It is explained by mechanical factors, trauma, actinic influence, atopy, avitaminosis, or low-grade infections (candidiasis).

A fissured tongue (plicated or scrotal) occurs in as many as 80% of children with Down syndrome, but it affects about 5% of the general population. It is often associated with macroglossia. The cause of this condition is unclear. Geographic tongue occurs in 11.3% of patients with Down syndrome. Juvenile periodontitis is a feature of Down syndrome, and its incidence among the various age groups parallels the occurrence of cheilitis but without significant correlation.

Hair assessment

Baby hair is normal at birth, but it is often fine and hypopigmented.

The incidence of alopecia areata is higher than in dermatologic outpatients or in individuals with mental retardation. It occurs in 6-8.9% of patients with Down syndrome. The disorder tends to be more severe, extensive, and persistent than in otherwise healthy patients with the condition. A decrease in the T-cell–dependent immune response and immunoglobulin G (IgG) deficiencies is reported in patients.

Vascular assessment

Vascular instability (acrocyanosis and cutis marmorata) is a frequent cutaneous manifestation of disease, because peripheral circulation is poor and an increased incidence of congenital heart disease occurs. Cutis marmorata of the trunk and the extremities is observed in 12.7% of children with Down syndrome.

Other

Down syndrome may be linked with autoimmune pathologies, including autoimmune enteropathy and cutaneous lupus erythematosus.[7] Systemic lupus erythematosus also has been observed in patients with Down syndrome.[8]

Carotenemia is no more frequent in patients with Down syndrome than in other persons with mental retardation. The incidence is increased in patients with associated hypothyroidism. Communal living, which often results in a diet rich in carotene products, is a reason for this condition.

Accessory tragi may occur with or without this syndrome. A child with it and multiple accessory tragi has been described.[9]

Neonates with trisomy 21 have an increased risk of developing transient myeloproliferative disorder, which affects up to 10% of them.[10, 11] Some of them develop a vesiculopustular or papulopustular eruption that may resemble bullous impetigo. Sadly, leukemia may eventuate in a minority of them.

Trisomy 21 with myelodysplastic syndrome has been described transforming into acute megakaryoblastic leukemia, evident as multiple soft-tissue masses over the scalp and extremities, biopsy specimens of which showed granulocytic sarcoma.[12]

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Diagnostic Studies

No consistent laboratory abnormalities have been found in patients with Down syndrome and dermatologic manifestations. However, a discriminate analysis is used for development of a dermatoglyphic nomogram for diagnosis of Down syndrome. The mathematical method was developed for discrimination of Down syndrome from control subjects.[13, 14]

In suspected cases of Down syndrome in a patient with dermatologic manifestations, chromosomal analysis of karyotype is required to establish one of the abnormalities noted in Clinical Evaluation for diagnosis. Measuring perceptions of affected persons about prenatal testing proves insightful.[15]

Histopathologic observations of localized chronic eczematous plaques and hyperkeratotic lichenifications in Down syndrome reveal chronic nonspecific dermatitis with a hyperkeratotic epidermis, irregular acanthosis and spongiosis, and a perivascular infiltration of lymphocytes in the upper dermis.

Human leukocyte antigen (HLA) allele analysis in those with Down syndrome showed a tendency to have higher proportions of HLA-A 36 and HLA-B 15 than those with alopecia areata alone and individuals with both Down syndrome and alopecia areata.[16]

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Contributor Information and Disclosures
Author

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Albert C Yan, MD Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine

Albert C Yan, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology, Society for Pediatric Dermatology, American Academy of Pediatrics

Disclosure: Nothing to disclose.

Acknowledgements

Assen L Dourmishev, MD, PhD, DSc Professor of Dermatology, Consultant Dermatologist, Department of Dermatology, Medical Institute of the Ministry of Internal Affairs, Bulgaria

Assen L Dourmishev, MD, PhD, DSc is a member of the following medical societies: European Academy of Dermatology and Venereology and Sigma Xi

Disclosure: Nothing to disclose.

References
  1. Lejeune J, Gautier M, Turpin R. [Study of somatic chromosomes from 9 mongoloid children.] Article in French. C R Hebd Seances Acad Sci. 1959 Mar 16. 248(11):1721-2. [Medline].

  2. Wilms A, Dummer R. [Elastosis perforans serpiginosa in Down syndrome]. Hautarzt. 1997 Dec. 48(12):923-5. [Medline].

  3. Daneshpazhooh M, Nazemi TM, Bigdeloo L, Yoosefi M. Mucocutaneous findings in 100 children with Down syndrome. Pediatr Dermatol. 2007 May-Jun. 24(3):317-20. [Medline].

  4. Masjkey D, Bhattacharya S, Dhungel S, et al. Utility of phenotypic dermal indices in the detection of Down syndrome patients. Nepal Med Coll J. 2007 Dec. 9(4):217-21. [Medline].

  5. Johnston JN, Kaplan SL, Mason EO, Hulten KG. Characterization of Staphylococcus aureus infections in children with Down syndrome. J Infect Chemother. 2015 Sep 16. [Medline].

  6. Nagsuk P, Moore R, Lopez L. A case report of crusted scabies in an adult patient with Down syndrome. Dermatol Online J. 2015 Aug 15. 21 (8):[Medline].

  7. Depince-Berger A, Cremilieux C, Rinaudo-Gaujous M, Genin C, de Freminville B, Lambert C, et al. A Difficult and Rare Diagnosis of Autoimmune Enteropathy in a Patient Affected by Down Syndrome. J Clin Immunol. 2016 Apr 12. [Medline].

  8. Feingold M, Schneller S. Down syndrome and systemic lupus erythematosus. Clin Genet. 1995 Nov. 48(5):277. [Medline].

  9. Verma P. Multiple accessory tragi in a case of Down's syndrome. Indian J Dermatol Venereol Leprol. 2012 Nov-Dec. 78(6):776. [Medline].

  10. Narvaez-Rosales V, Saez-de-Ocariz M, Carrasco-Daza D, Ramirez-Davila B, Orozco-Covarrubias L, Duran-McKinster C, et al. Neonatal vesiculopustular eruption associated with transient myeloproliferative disorder: report of four cases. Int J Dermatol. 2012 Oct 9. [Medline].

  11. Iwashita N, Sadahira C, Yuza Y, Yoshihashi H, Kondou M. Vesiculopustular eruption in neonate with trisomy 21 and transient myeloproliferative disorder. J Pediatr. 2013 Mar. 162(3):643-4. [Medline].

  12. Obaid MA, Bourusly M, Ancliff P, Al Matter E. Rare Association of Myeloid leukaemia of Down Syndrome with Granulocytic Sarcoma. Gulf J Oncolog. 2014 Jul. 1(16):101-4. [Medline].

  13. Miller JR. Dermatoglyphics. J Invest Dermatol. 1973 Jun. 60(6):435-42. [Medline].

  14. Reed TE, Borgaonkar DS, Conneally PM, Yu P, Nance WE, Christian JC. Dermatoglyphic nomogram for the diagnosis of Down's syndrome. J Pediatr. 1970 Dec. 77(6):1024-32. [Medline].

  15. Barter B, Hastings RP, Williams R, Huws JC. Perceptions and Discourses Relating to Genetic Testing: Interviews with People with Down Syndrome. J Appl Res Intellect Disabil. 2016 May 11. [Medline].

  16. Estefan JL, Oliveira JC, Abad ED, Saintive SB, Porto LC, Ribeiro M. HLA antigens in individuals with down syndrome and alopecia areata. World J Clin Cases. 2014 Oct 16. 2(10):541-5. [Medline].

 
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Characteristic flat facies with hypertelorism, depressed nasal bridge, protrusion of the tongue, and a single, palmar, simian crease in a 2-year-old girl with Down syndrome. Courtesy of L. Dourmishev, MD, PhD, DSc.
A palmar, simian crease in a patient with Down syndrome. Courtesy of L. Dourmishev, MD, PhD, DSc.
 
 
 
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