Dermatologic conditions in Down syndrome

Abstract

Down syndrome (DS), or trisomy 21, is the most common chromosomal condition diagnosed in the United States with an estimated worldwide incidence of one in every 1000 births. About 200-300 genes are found on chromosome 21, and the added gene products translate to a variety of potential medical conditions. Although often overlooked in research and health care guidelines, the skin can be significantly affected in people with DS. 1,2 A study on the prevalence of medical conditions in young adults with DS found 56% of those surveyed reported skin findings. 3 In this review, a general overview of DS and practical examination strategies are provided. We comprehensively review associated dermatologic conditions, with particular emphasis on more common diseases including adnexal, eczematous, and cutaneous autoimmune disorders (Table 1). Throughout the review, trisomy of chromosome 21 and resulting downstream effects are explored, in particular the effect on the immune system. At the conclusion, clinicians should feel confident in their approach to a patient with DS and anticipate potential dermatologic diagnoses. | OVERVIE W OF DOWN SYNDROMEAn estimated 200,000 individuals with DS reside in the United States today. 4 Certain medical conditions are more common, including hearing deficits, visual problems, hematologic/oncologic disorders, congenital heart disease, and endocrinopathies. 5 Elevated body mass index (BMI) is also highly prevalent and a recent literature review found up to 70% of people with DS were classifed as overweight or obese. 6 This could be relevant to several skin conditions including hidradenitis suppurativa and psoriasis.Features of both immunodeficiency and immune dysregulation are common in DS. Upper and lower respiratory tract infections result in significant morbidity and mortality. 7 Autoimmune conditions such as Hashimoto thyroiditis, celiac disease, type I diabetes, alopecia areata, and juvenile idiopathic arthritis are more frequent. 5 The extent of immune dysregulation is complex. Current research suggests dysfunction of innate and adaptive systems, anomalies in T and B cells, atypical monocytes, impaired neutrophil chemotaxis, abnormal circulating cytokines, and suboptimal antibody responses. 8 The skin offers a unique window into understanding these immune pathways.While many known complications in DS are found, medical benefits are also well described. These include a reduced incidence of solid organ tumors, atherosclerotic disease, hypertension, thromboembolic stroke, asthma, and allergy. 9-14 These observations will be of particular interest when we discuss hidradenitis suppurativa (HS), psoriasis, eczematous dermatitis, and cutaneous malignancies in patients with DS.

Autoimmunity in Down’s syndrome via cytokines, CD4 T cells and CD11c+ B cells

“…Down's syndrome (DS) presents with a constellation of cardiac, neurocognitive and growth impairments. Individuals with DS are also prone to severe infections and autoimmunity including thyroiditis, type 1 diabetes, coeliac disease and alopecia areata 1,2 . Here, to investigate the mechanisms underlying autoimmune susceptibility, we mapped the soluble and cellular immune landscape of individuals with DS.…”

“…This extra copy of around 200 genes results in a syndrome with considerable phenotypic variability that includes intellectual disability, developmental malformationsparticularly of the heart and the gut-and increased risk of Alzheimer's disease 1 . As care for individuals with DS has substantially improved in recent decades 5 , the immune features of DS have become apparent: patients have an increased risk of severe infectious disease concomitant with a higher incidence of autoimmunity including thyroiditis (50%), coeliac disease (5%), alopecia areata (1-11%) and type 1 diabetes (1%) 1,2,6 .…”

Down syndrome and biological treatments in dermatology: Efficacy and safety in our real‐life experience and review of literature

“…Efficacy and safety of biological drug are still matter of concern in DS. Nowadays, there is no study conduct on these patients, while only few case reports are present in the literature 2 . Traditional systemic drugs used in these dermatologic conditions have several limitations.…”

“…Several dermatological conditions are common in these patients; among them, psoriasis and atopic dermatitis can be frequently encountered. Psoriasis is described in 1%–8% of patient with DS 2 . Life quality can be severely compromised, and this can lead to depression and consequent reduction of the skills of these patients.…”

An Overview of the Diagnosis and Management of Seborrheic Dermatitis

“…In this case, the pathogenesis is still poorly delineated, although a role of immune dysregulation in promoting Malassezia proliferation seems likely. 87 Mild-to-moderate SD forms can be managed with topical antifungals or antiinflammatory agents (mild-to-moderate potency corticosteroids). In severe and/or resistant cases, the use of systemic antifungals may be considered.…”