Restrictive dermopathy (RD) is a rare, fatal, and genetically heterogeneous laminopathy with a predominant autosomal recessive heredity pattern. The phenotype can be caused by mutations in either LMNA (primary laminopathy) or ZMPSTE24 (secondary laminopathy) genes but mostly by homozygous or compound heterozygous ZMPSTE24 mutations. Clinicopathologic findings are unique, allowing a specific diagnosis in most cases. We describe a premature newborn girl of non-consanguineous parents who presented a rigid, translucent and tightly adherent skin, dysmorphic facies, multiple joint contractures and radiological abnormalities. The overall clinical, radiological, histological, and ultrastructural features were typical of restrictive dermopathy. Molecular genetic analysis revealed a homozygous ZMPSTE24 mutation (c.1085_1086insT). Parents and sister were heterozygous asymptomatic carriers. We conclude that RD is a relatively easy and consistent clinical and pathological diagnosis. Despite recent advances in our understanding of RD, the pathogenetic mechanisms of the disease are not entirely clarified. Recognition of RD and molecular genetic diagnosis are important to define the prognosis of an affected child and for recommending genetic counseling to affected families. However, the outcome for a live born patient in the neonatal period is always fatal.
Sweet's syndrome is the most frequent category among the neutrophilic dermatosis and is diagnosed by clearly defined criteria. Vaccines are included as potential triggers of this syndrome. Nevertheless, there are few reports unveiling such association. Herein, we describe the case of a patient who developed Sweet's syndrome after pneumococcal vaccination. To our knowledge, this is the second case of Sweet's syndrome triggered by pneumococcal vaccine reported, and the first one specifically with the 13-valent conjugate vaccine.
We present two patients with allergic rhinitis who developed perioral dermatitis (PD) after initiating intranasal steroid spray. Both patients had been previously misdiagnosed as having contact or seborrheic dermatitis, and therefore inappropriately and unsuccessfully treated with topical steroids. Physicians should be aware of this potential side effect of intranasal steroids to avoid incorrect therapeutic measures. In the setting of nasal steroids use, PD probably is an under-reported and commonly misdiagnosed condition that should be thought when a patient treated with nasal steroids present with small erythematous papules, papulovesicles, and papulopustules occurring against a background of redness, beginning in the nasolabial areas and spreading rapidly to the perioral zone.
Trichotillomania (TTM) is an impulse-control disorder, in which patients chronically pull hair from the scalp and/or other sites. We herein report a 8-year-old male patient who developed TTM in the classical tonsure pattern ("Friar Tuck" sign). The diagnosis was confirmed by trichoscopy, which showed decreased hair density, broken hairs with different shaft lengths, black dots, signs of hemorrhage, and an absence of exclamation mark hairs.
Tardigrade taxonomy is particularly nebulous in the so-called Pseudechiniscus suillus complex, a group of species very difficult to distinguish from one another. This species complex needs complete revision. In this study, traditional morphometric and geometric morphometric relationships among five populations of the P. suillus group, from four different Atlantic islands (three in the Azores and S. Tome´) and one from the Portuguese mainland, were investigated to explore their potential for discriminating cryptic species. Seven traditional morphometric variables were used to describe variation by means of principal component analysis. In addition, two traits, claws and dorsal segmental plates, were analysed using a geometric morphometric approach that has the ability to determine very subtle differences in shape. The results of both analyses suggest the occurrence of four morphs exhibiting different sizes and shapes of cirrus A, claws and dorsal plates. The high taxonomic value of those characters joined with some other qualitative aspects, such as the cuticle sculpture, seems to indicate that different species can be distinguished among these morphs. This leads to the conclusion that the geometric morphometric approach is a useful complementary tool to the traditional morphometric approach for discriminating cryptic species of heterotardigrades.
Psoriasis is a chronic inflammatory disorder of the skin and joints. Although rarely life threatening, psoriasis can significantly impair quality of life (QOL) and cause considerable physical and psychological distress. Between 6 and 42% of patients with psoriasis develop psoriatic arthritis, which is characterized by stiffness, pain, swelling and tenderness of the joints. Nail psoriasis is highly prevalent in both plaque-type psoriasis and psoriatic arthritis and is found in approximately 50% of patients with psoriasis and in 80% of patients with psoriatic arthritis. Infliximab, a chimeric human-murine monoclonal antibody directed against tumour necrosis factor α, is approved in the USA and EU for the treatment of plaque psoriasis and psoriatic arthritis at a recommended dosage of 5 mg/kg administered by intravenous infusion at 0,2 and 6 weeks, then every 8 weeks thereafter. The EXPRESS and EXPRESS II trials demonstrated that infliximab is efficacious as induction and maintenance therapy in the treatment of moderate to severe plaque psoriasis and also improved health-related QOL. Infliximab is also efficacious in the treatment of psoriatic arthritis, as shown in the IMPACT and IMPACT II studies. Infliximab is generally well tolerated, with a similar adverse event profile in both psoriasis and psoriatic arthritis. The use of infliximab in three case reports is presented. The patients are similar to those normally seen by clinicians, and include a male patient with plaque psoriasis and a history of severe psoriatic arthritis who was corticosteroid dependent and in whom other systemic treatments were not effective or were not able to be used. This patient showed a rapid response to infliximab with no skin lesions or arthritis after 7 weeks' treatment. Infliximab was also safe and effective in the treatment of a female patient with plaque and nail psoriasis and a history of psoriatic arthritis. Importantly, this case report supports the efficacy of infliximab in psoriatic nail disease in the context of severe skin and joint involvement. Case 3 describes a young male patient with moderate plaque-type psoriasis associated with severe nail involvement and early signs of psoriatic arthritis. Treatment with infliximab improved nail psoriasis and appears to be an effective biological treatment for nail psoriasis. Importantly, ultrasound was able to diagnose joint involvement, as seen from the proliferative synovitis in the distal interphalangeal joint and mild enthesitis, despite there being no clinical evidence of psoriatic arthritis. This case report highlights the importance of early screening. If such abnormalities are detected early on in the course of psoriasis, clinicians may be able to predict which patients are more likely to develop psoriatic arthritis, and therefore offer effective and long-term treatment that may reduce the disability and impairment of daily activities that can be associated with psoriatic arthritis.
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