Common Dermatologic Disorders in Down Syndrome: Systematic Review

Lam, Megan; Lu, Justin D.; Elhadad, Levi; Sibbald, Cathryn; Alhusayen, Raed

doi:10.2196/33391

Cited by 3 publications

(6 citation statements)

References 135 publications

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“…DS is also prone to infectious, inflammatory, autoimmune, and connective tissue conditions. DS associated with connective tissue disorders is hypothesized but is still rare 4 .…”

Section: Introductionmentioning

confidence: 99%

Systemic lupus erythematosus and Down syndrome: a case report and literature review

Kudsi,

Haj Ali,

Khalayli

et al. 2024

Annals of Medicine &Amp; Surgery

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Introduction: Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease that can involve any organ system, and may lead to significant morbidity and even mortality. Down’s syndrome (DS) is the most frequent genetic cause of intellectual disabilities, typically caused by the presence of an extra chromosome 21. Case presentation: A 47-year-old Syrian female of DS who complained of low-grade fever, oral aphthae, fatigue, and arthralgia three months before presentation. Although the patient was diagnosed with phenotypically and gynogenically Down Syndrome (DS), a milder mosaic type was identified. She appeared fatigued with a B.P 110/70 mmHg, Pulse104/min, Temp 100 F°, having oral ulcers, tenderness of joints on palpation, hemoglobin 9.4 g/dL, white blood cells 10.9/mm3, platelets 87,000×109/cm with C-reactive protein of 2,3 mg/dL, and an erythrocyte sedimentation rate of 68. Urea 33 mg/dL with creatinine 0.9. The rest of the tests were unremarkable. Urine analysis was normal. Discussion: The prevalence of Systemic Lupus Erythematosus (SLE) in Down Syndrome (DS) in the literature was found only in five cases, with different presentations, in the last 36 years. In our case the patient presented with mild lupus manifestations and responded well to steroids and hydroxychloroquine. Also, In our case, an onset of Systemic Lupus Erythematosus (SLE) in an old Down Syndrome (DS female patient), whereas SLE is more frequent in childbirth-aged women, in addition to that Down Syndrome (DS) patients had a short life expectancy. Conclusions: Down Syndrome (DS) is associated with a predisposition to developing connective tissue disorders, especially in young females. unfortunately, patients were not diagnosed in all 5 cases until later with a flare because of the cognitive defect.

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“…DS is also prone to infectious, inflammatory, autoimmune, and connective tissue conditions. DS associated with connective tissue disorders is hypothesized but is still rare 4 .…”

Section: Introductionmentioning

confidence: 99%

Systemic lupus erythematosus and Down syndrome: a case report and literature review

Kudsi,

Haj Ali,

Khalayli

et al. 2024

Annals of Medicine &Amp; Surgery

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“…1 However, the prevalence of psoriasis in T21 is similar to the general population with no clear signal for increased severity. 2 T21-associated immune dysregulation may have implications for efficacy, safety, and drug survival of biologic medications.…”

Section: Introductionmentioning

confidence: 99%

“…Other common dermatological disorders in T21 include xerosis, seborrheic and atopic dermatitis, keratosis pilaris, folliculitis, hidradenitis suppurativa, alopecia areata, vitiligo, onychomycosis, and scabies; and other papulosquamous disorders such as crusted scabies or pityriasis rubra pilaris. 2 Ireland has one of the highest incidences of T21 with 1 in 444 live births affected, and approximately 110 infants with T21 born annually in Ireland. 3 There have been six published reports of biologic use for psoriasis in T21: five for TNFα-inhibitors and one for ustekinumab (Table 1).…”

Section: Introductionmentioning

confidence: 99%

“…There are defects in innate and adaptive immunity in T21 with higher levels of tumor necrosis factor‐α (TNFα), interleukin‐ (IL) 1β, and interferons (IFN) 1 . However, the prevalence of psoriasis in T21 is similar to the general population with no clear signal for increased severity 2 . T21‐associated immune dysregulation may have implications for efficacy, safety, and drug survival of biologic medications.…”

Section: Introductionmentioning

confidence: 99%

“…T21‐associated immune dysregulation may have implications for efficacy, safety, and drug survival of biologic medications. Other common dermatological disorders in T21 include xerosis, seborrheic and atopic dermatitis, keratosis pilaris, folliculitis, hidradenitis suppurativa, alopecia areata, vitiligo, onychomycosis, and scabies; and other papulosquamous disorders such as crusted scabies or pityriasis rubra pilaris 2 . Ireland has one of the highest incidences of T21 with 1 in 444 live births affected, and approximately 110 infants with T21 born annually in Ireland 3 .…”

Section: Introductionmentioning

confidence: 99%

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Biological and JAK inhibitor therapy outcomes for severe psoriasis in trisomy 21

O’Connor

Byrne

Roche

et al. 2023

The Journal of Dermatology

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Little is known about biological outcomes for severe psoriasis in trisomy 21 (T21). Our aim was to review outcomes of patients with T21 and severe psoriasis treated with biologic or Janus kinase inhibitors (JAKi). Information on demographics, co‐morbidities, and therapeutic responses was retrospectively collated. Twenty‐one patients were identified (mean age 24.7 years). Ninety percent (18/20) of TNFα inhibitor trials failed. Almost two‐thirds (7/11) of patients achieved an adequate response with ustekinumab. All three patients treated with tofacitinib achieved an adequate response following at least three biologic failures. The mean number of biologic/JAKi therapies received was 2.1 with overall survival of 36%. Eighty‐one percent (17/21) of patients required conversion from their index biologic treatment due to failure. In patients with T21 and severe psoriasis, failure of TNFα inhibition is common and ustekinumab therapy should be considered as first‐line therapy. The role of JAKi is emerging.

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Norwegian scabies in a patient with Down syndrome – case report

Werner,

Zalewska,

Płatkowska

et al. 2024

Our Dermatol Online

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Scabies is a highly infectious dermatosis. It is caused by the mite Sarcoptes scabiei var. hominis. The available estimates indicate more than 400 million cases of scabies annually. The main route of infection is direct skin contact. The main symptoms such as pruritus appear 3–6 weeks after infection. Additionally, papules, erythema, erosions, excoriations, and crusts may be visible. One of the rarest forms of scabies is Norwegian scabies. This is the most severe variant. Its clinical picture may resemble psoriasis. In the article, we present the case of a 21-year-old patient with Down syndrome who was admitted to the department of dermatology with a diagnosis of psoriasis. During hospitalization, due to clinical doubts, it was decided to extend the diagnostics. Basing on the microscopic examination, Norwegian scabies was diagnosed. The treatment involved oral ivermectin and topical 5% permethrin, which resulted in a remission of the skin lesions and the resolution of itching. Key words: Sarcoptes scabiei, Scabies, Crusted scabies, Permethrin, Ivermectin

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Common Dermatologic Disorders in Down Syndrome: Systematic Review

Cited by 3 publications

References 135 publications

Systemic lupus erythematosus and Down syndrome: a case report and literature review

Systemic lupus erythematosus and Down syndrome: a case report and literature review

Biological and JAK inhibitor therapy outcomes for severe psoriasis in trisomy 21

Norwegian scabies in a patient with Down syndrome – case report

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