Ustekinumab for Treatment of Plaque Psoriasis in a Patient With Down Syndrome
August 2012 | Volume 11 | Issue 8 | Case Reports | 1000 | Copyright © August 2012
Down syndrome (DS) is the most common chromosomal disorder and a major cause of mental retardation. Down syndrome phenotype is complex and may present a combination of dysmorphic features, congenital heart disease and immunological deficiency. Psoriasis it has been noted to be 0.5%-8% in patients with DS and numerous factors can limit the use of therapeutic options, in particular long-term organ-specific toxicity, and the risk of opportunistic infections. It is still debated whether the use of biologics in the treatment of DS-related psoriasis is safe. We have valuated the efficacy and safety of ustekinumab treatment in-patient with DS suffering from plaque type psoriasis. A 31-year-old patient suffering from plaque type psoriasis since the age of 14, showed a PASI score of 12 after the failure of anti-TNF agents. We switched the patient to ustekinumab treatment at the standard dose of 45 mg subcutaneously initially and 4 weeks later, followed by 45 mg every 12 weeks. The patient showed a significant improvement of the PASI score already after 4 weeks of treatment and further improvements were observed throughout the treatment. We report the first case of DS-correlated psoriasis patient treated for a long-term period with various biologics, showing a satisfactory safety profile undergoing treatment. In our experience, ustekinumab has demonstrated a high efficacy, relatively rapid onset of action, favorable safety profile, and can be considered a good treatment option even after failure to respond to other biologic therapies in patient with DS.
J Drugs Dermatol.
Down syndrome (DS) is a chromosomal disorder resulting
by triplication of chromosome 21, with an estimated prevalence of 1 per 600 to 1 per 800.1 This congenital condition is characterized by intellectual disability,
ranging from mild to severe, and typical physical features such as hypotonia, epicanthal folds and upward slanting eyes, Brushfield spots, flat nasal bridge, small mouth and ears, large tongue, excess nuchal skin, a single transverse palmar crease, and clinodactyly of the fifth fingers.2,3 Down syndrome includes an increased risk of congenital heart disease (50%), seizure disorders
(2.6% to 8.8%) atlantoaxial or atlantooccipital instability
(10% to 30%), leukemia (<1%), deafness (75%), serous otitis media (50% to 70%), gastrointestinal atresias (12%), cataracts (15%), severe refractive errors (50%), and hypothyroidism (15%), among many other physical and psychosocial difficulties.
1,2 Although main physical and psychosocial features have been well-characterized in DS, correlated skin disorders have been rarely investigated. It is known that DS is associated with accelerated aging and an increased incidence of acne vulgaris,
anetoderma, cheilitis, cutis marmorata, elastosis perforans serpiginosa, fissured and geographic tongue, onychomycosis, palmo-plantar hyperkeratosis, pityriasis rubra pilaris, psoriasis, seborrheic dermatitis, syringoma, tinea pedis, alopecia areata, vitiligo, atopic dermatitis, and xerosis.2,4-9 The high incidence of immune-related disorders of the skin, such as alopecia areata, vitiligo, atopic dermatitis, and psoriasis, seems to be correlated
to an immunological imbalance associated with a T-cell dysfunction.10,11 Evidences regarding the impaired immune response
occurring in DS are still controversial: defects in both humoral and cellular immunity might increase the susceptibility
to infections and the incidence of malignancies that are commonly observed in individuals affected by DS.12-13 The incidence
of psoriasis in the general population is 1% to 3%,14 whereas it has been reported as 0.5% to 8%5,6 among patients with DS. Down syndrome-related psoriasis is a challenging condition considering a) the large number of comorbidities, b) the increased risk of malignancies and, c) factually, therapeutic agents are immunosuppressive or organ-specific toxic, or both. It is still debated whether the use of biologics in the treatment of DS-related psoriasis is safe. We report the case of a DS-correlated
psoriasis patient treated for a long-term with various biologics, showing a satisfactory safety profile while undergoing
treatment, and experiencing an excellent clinical response to uteskinumab after failing anti-TNF α therapies.
We describe the case of a 31-year-old Caucasian patient with DS suffering from plaque type psoriasis since the age of 14. The physical features include epicanthal folds and upward-slanting eyes, flat nasal bridge, small mouth and ears, large tongue, short neck, clinodactyly of the fifth fingers, plantar crease between first and second toes. The patient, showing mild intellectual
disability, is socially well-integrated, with a regular job as well as regular social life.