Dermatologic conditions in Down syndrome: A single‐center retrospective chart review

Rork, Jillian F.; McCormack, Lindsay; Lal, Karan; Wiss, K; Belazarian, Leah

doi:10.1111/pde.14214

Cited by 19 publications

(23 citation statements)

References 40 publications

(51 reference statements)

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“…Follicular occlusion disorders, including folliculitis and hidradenitis suppurativa, are among the most common cutaneous conditions in patients with DS. [22][23][24][25][26][27][28] Folliculitis was first described as Pityrosporum folliculitis on the chest and back. 29,30 Recent publications have described a refractory inflammatory folliculitis concentrated on the thighs and buttocks that can result in anetoderma-like scar formation (Figure 1A,1B).…”

Section: Adnexal Conditionsmentioning

confidence: 99%

“…29,30 Recent publications have described a refractory inflammatory folliculitis concentrated on the thighs and buttocks that can result in anetoderma-like scar formation (Figure 1A,1B). 22,24,27,28,31 Several studies have found this form of folliculitis to be the most common skin diagnosis, and many patients have a concomitant diagnosis of HS, suggesting these conditions may be along the same continuum. 22,24,27,28 Hidradenitis suppurativa appears to be more prevalent in DS (Figure 1C,1D).…”

Section: Adnexal Conditionsmentioning

confidence: 99%

“…22,24,27,28,31 Several studies have found this form of folliculitis to be the most common skin diagnosis, and many patients have a concomitant diagnosis of HS, suggesting these conditions may be along the same continuum. 22,24,27,28 Hidradenitis suppurativa appears to be more prevalent in DS (Figure 1C,1D). 32 A population-based cross-sectional analysis of nearly 12 000 DS patients found a 2.1% prevalence of HS vs. 0.3% in controls.…”

Section: Adnexal Conditionsmentioning

confidence: 99%

“…In a recent study, the majority of DS patients with HS were obese (68.2%). 28 HS is known to be associated with metabolic syndrome and an increased risk of adverse cardiovascular outcomes. 41,42 While a reported decrease in hypertension and atherosclerotic events is found to be observed in patients with DS, we do not know whether this applies to those with HS.…”

Section: Adnexal Conditionsmentioning

confidence: 99%

“…22 Several conditions related to xerosis are commonly seen, including keratosis pilaris and hyperkeratosis of the extensor and palmoplantar surfaces (Figure 2B). 22,27,28 Eczematous dermatitis can also occur. While earlier studies reported atopic dermatitis was a major cutaneous finding of DS, this has since been challenged when Hanifin and Rajka atopic dermatitis criteria were applied.…”

Section: Xerotic and Eczematous Conditionsmentioning

confidence: 99%

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Dermatologic conditions in Down syndrome

Ryan

Vellody

Belazarian

et al. 2021

Pediatric Dermatology

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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.

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Section: Adnexal Conditionsmentioning

confidence: 99%

Section: Adnexal Conditionsmentioning

confidence: 99%

Section: Adnexal Conditionsmentioning

confidence: 99%

Section: Adnexal Conditionsmentioning

confidence: 99%

Section: Xerotic and Eczematous Conditionsmentioning

confidence: 99%

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Dermatologic conditions in Down syndrome

Ryan

Vellody

Belazarian

et al. 2021

Pediatric Dermatology

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Down Syndrome and Autoimmune Disease

Hom,

Boyd,

Vogel

et al. 2024

Clinic Rev Allerg Immunol

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Down syndrome is the most common genetic cause of intellectual disability and has previously been associated with a variety of autoimmune disorders affecting multiple organ systems. The high prevalence of autoimmune disease, in conjunction with other inflammatory and infectious diseases, in this population suggests an intrinsic immune dysregulation associated with triplication of chromosome 21. Emerging data on the role of chromosome 21 in interferon activation, cytokine production, and activation of B-cell mediated autoimmunity are emerging hypotheses that may explain the elevated prevalence of autoimmune thyroid disease, celiac disease, type I diabetes, autoimmune skin disease, and a variety of autoimmune neurologic conditions. As the life expectancy for individuals with Down syndrome increases, knowledge of the epidemiology, clinical features, management and underlying causes of these conditions will become increasingly important. Disorders such as Hashimoto’s thyroiditis are prevalent in between 13 and 34% of individuals with Down syndrome but only 3% of the neurotypical population, a pattern similarly recognized in individuals with Celiac Disease (5.8% v 0.5–2%), alopecia areata (27.7% v. 2%), and vitiligo (4.4% v. 0.05–1.55%), respectively. Given the chronicity of autoimmune conditions, early identification and management can significantly impact the quality of life of individuals with Down syndrome. This comprehensive review will highlight common clinical autoimmune conditions observed in individuals with Down syndrome and explore our current understanding of the mechanisms of disease in this population.

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