Multiple dermatofibromas in Down syndrome

Lamb, Ruth C.; Gangopadhyay, M.; MacDonald, Alison

doi:10.1111/ijd.12037

Cited by 10 publications

(11 citation statements)

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“…Three cases of multiple dermatofibromas were included (Multimedia Appendix 9) [107][108][109], commonly defined as the development of 5 to 8 lesions within 4 months. The number of lesions at the time of report ranged from 6 to approximately 30.…”

Section: Dermatofibromamentioning

confidence: 99%

Common Dermatologic Disorders in Down Syndrome: Systematic Review

Lam¹,

Lu²,

Elhadad³

et al. 2022

JMIR Dermatol

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Background Down syndrome (DS) has been associated with cardiovascular, gastrointestinal, and immune-related abnormalities. Several dermatologic conditions, including hidradenitis suppurativa, have also been found to be associated with DS. Objective The objective of this study was to characterize the prevalence, presentation, and unique features of dermatologic disorders associated with DS. Methods Electronic searches of EMBASE (via Ovid), MEDLINE (via Ovid), and Web of Science databases were conducted on December 14, 2020. Observational studies including case reports of patients with DS presenting with concomitant primary dermatologic disorder were included. Results This systematic review captured 40 observational studies and 99 case reports, including 10 observational studies that examined the prevalence of common skin disorders in patients with DS. The most common dermatologic conditions reported includes atopic dermatitis (8 studies, n=180; 19.7% mean prevalence), hidradenitis suppurativa (15, n=478; 3.2%), ichthyosis (4, n=16; 4.7%), lichen nitidus (6, n=6; 1.1%), psoriasis (21, n=65; 4.8%), alopecia areata (27, n=253; 7.4%), vitiligo (8, n=40; 4.4%), onychomycosis (3, n=198; 24.7%), calcinosis cutis (14, n=15), connective tissue nevi (6, n=6), dermatofibroma (3, n=3), melanoma (3, n=3), syringomas (14, n=182; 21.2%), and elastosis perforans serpiginosa (19, n=24; 0.5%). Conclusions Our results indicate an increased prevalence of common cutaneous disorders in patients with DS, particularly infectious, inflammatory, autoimmune, and connective tissue conditions. Current guidelines for the screening, general management, and use of systemic immunomodulatory agents in this patient population are lacking. Patients with DS would benefit from screening for dermatologic disorders not otherwise regularly performed for earlier diagnosis and treatment. Trial Registration PROSPERO International Prospective Register of Systematic Reviews CRD42021226295; https://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=226295

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Section: Dermatofibromamentioning

confidence: 99%

Common Dermatologic Disorders in Down Syndrome: Systematic Review

Lam¹,

Lu²,

Elhadad³

et al. 2022

JMIR Dermatol

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“…Multiple eruptive dermatofibromas (MDF) are defined by 4-8 dermatofibromas occurring over a 4 months period. 89 The majority of MDF cases have been associated with autoimmune conditions or immunodeficiency, which may explain the association with DS. 90 Several cases of MDF have been reported in the literature with the lesions developing within a short period ranging from 3 months to 3 years.…”

Section: Eruptive Dermatofibromasmentioning

confidence: 99%

“…90 Several cases of MDF have been reported in the literature with the lesions developing within a short period ranging from 3 months to 3 years. 89,91,92…”

Section: Eruptive Dermatofibromasmentioning

confidence: 99%

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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Patients with trisomy 21 present with skin concerns and conditions, including both common and rare conditions. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18] Most knowledge about dermatologic conditions in those with trisomy 21 comes from anecdotal reports, with limited comprehensive high-quality data.Most existing literature consists of small case studies, or patients seen in subspecialized settings with relatively sparse information regarding treatment and complications. [19][20][21][22][23][24] We sought to comprehensively study which skin conditions are most prevalent in patients with trisomy 21, including information regarding diagnosing specialty, care setting, and treatment.

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mentioning

confidence: 99%

“…Patients with trisomy 21 present with skin concerns and conditions, including both common and rare conditions. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18] Most knowledge about dermatologic conditions in those with trisomy 21 comes from anecdotal reports, with limited comprehensive high-quality data.…”

mentioning

confidence: 99%