Graves' disease thyroid dermopathy: a case report.

BACKGROUND: Graves' disease is the autoimmune activation of the thyroid gland causing diffuse enlargement and hyperfunction of the gland. Manifestations of Graves' disease are multisystemic and include thyroid orbitopathy; pretibial myxedema, also referred to as thyroid dermopathy; and thyroid acropachy, described as a severe form of thyroid dermopathy. Our paper focuses on an atypical case of thyroid dermopathy. CASE PRESENTATION: An 11-year-old Saudi male presented with a prominent diffuse goiter and exophthalmos. Investigations were consistent with a diagnosis of Graves' disease. The physical exam showed diffuse, non-pitting swelling of the ankle and penis, mimicking a lymphatic malformation. Further, multiple nodules were found on the hands and feet. Treatment of the nodules with cautery resulted in more severe nodules. CONCLUSION: This report describes rare presentations of thyroid dermopathy mimicking lymphatic malformation. The Koebner phenomenon can explain this patient's atypical presentations. Intralesional injections of triamcinolone and total thyroidectomy showed clear improvement.

Skin Allograft after Bone Marrow Transplantation of Patient with Recessive Dystrophic Epidermolysis Bullosa.

In this study, we present a 26-year-old woman with case presentation of recessive dystrophic epidermolysis bullosa who had developed squamous cell carcinoma. The patient underwent bone marrow transplant and skin grafting with the same bone marrow donor. After excision of squamous cell carcinoma and skin grafting, no tumor was observed; thus, chemotherapy and radiation were no longer needed.

Certolizumab to treat hidradenitis suppurativa.

Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition that affects apocrine gland-bearing skin. The management of HS with biologics has expanded significantly over the past few years. Certolizumab pegol is a pegylated (polyethylene glycol) antigen-binding fragment of a recombinant humanized anti-TNF-α monoclonal antibody, which is approved for psoriasis, rheumatoid arthritis, ankylosing spondylitis, and Crohn's disease. In recent years many reports have been merging on the use of certolizumab in treating hidradenitis suppurativa. The electronic database MEDLINE was searched through PubMed in February 2022 using the following search terms: Certolizumab "[All Fields] OR" certolizumab pegol"[All Fields] AND "Hidradenitis suppurativa"[ All Fields]. The search revealed that certolizumab was used in 6 case reports to treat HS with a total of 7 patients. We can conclude that there are few cases in the literature discussing the use of certolizumab in HS, all of which, show a good and promising response with no reported side effects.

PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.

Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed novel homozygous likely deleterious variants in PRSS8 (encoding prostasin) within a linkage locus on chromosome 16. One variant involved a canonical splice site and was associated with reduced abundance of the normal transcript, while the other was a missense variant that altered a highly conserved residue. The phenotype of Prss8 knockout mouse bears a striking resemblance to the one we describe in human patients, including the skin histopathology. Our data suggest a novel PRSS8-related ichthyosis disorder.

Integrating dermatology services into a social pediatrics network: 8 years of experience in the RICHER (Responsive, Interdisciplinary/Intersectoral, Child/Community, Health, Education and Research) program.

Social pediatric initiatives aim to improve health outcomes for vulnerable children by working in the community to empower families, to enhance protective factors that mitigate adverse childhood experiences (ACEs), and to deliver place-based health care. In 2012, pediatric dermatology was added as a component of the Responsive, Interdisciplinary Intersectoral Child and Community Health Education and Research (RICHER) social pediatric program in Vancouver, BC. We share our experience with inclusion of pediatric dermatology in a well-established social pediatric program as well as lessons we have learned in the first 8 years of our partnership. Partnership, bridging trust, knowledge sharing, empowerment, consistency, and flexibility were found to be central elements in the success of this endeavor.

Juvenile Dermatomyositis: Advances in Pathogenesis, Assessment, and Management.

BACKGROUND: Juvenile dermatomyositis is the most common inflammatory myopathy in the pediatric age group and a major cause of mortality and morbidity in individuals with childhood rheumatic diseases. Mounting evidence suggests that early diagnosis and timely aggressive treatment are associated with better outcomes. OBJECTIVE: The purpose of this article is to provide readers with an update on the evaluation, diagnosis, and the treatment of juvenile dermatomyositis. METHODS: A PubMed search was performed in Clinical Queries using the key term "juvenile dermatomyositis" in the search engine. The search strategy included meta-analyses, randomized controlled trials, clinical trials, observational studies, and reviews. The search was restricted to English literature. The information retrieved from the above search was used in the compilation of the present article. RESULTS: Juvenile dermatomyositis is a chronic autoimmune inflammatory condition characterized by systemic capillary vasculopathy that primarily affects the skin and muscles with possible involvement of other organs. In 2017, the European League Against Rheumatism (EULAR) and the American College of Rheumatology (ACR) developed diagnostic criteria for juvenile idiopathic inflammatory myopathies and juvenile dermatomyositis. In the absence of muscle biopsies which are infrequently performed in children, scores (in brackets) are assigned to four variables related to muscle weakness, three variables related to skin manifestations, one variable related to other clinical manifestations, and two variables related to laboratory measurements to discriminate idiopathic inflammatory myopathies from non-idiopathic inflammatory myopathies as follows: objective symmetric weakness, usually progressive, of the proximal upper extremities (0.7); objective symmetric weakness, usually progressive, of the proximal lower extremities (0.8); neck flexors relatively weaker than neck extensors (1.9); leg proximal muscles relatively weaker than distal muscles (0.9); heliotrope rash (3.1); Gottron papules (2.1); Gottron sign (3.3); dysphagia or esophageal dysmotility (0.7); the presence of anti-Jo-1 autoantibody (3.9); and elevated serum levels of muscle enzymes (1.3). In the absence of muscle biopsy, a definite diagnosis of idiopathic inflammatory myopathy can be made if the total score is ≥7.5. Patients whose age at onset of symptoms is less than 18 years and who meet the above criteria for idiopathic inflammatory myopathy and have a heliotrope rash, Gottron papules or Gottron sign are deemed to have juvenile dermatomyositis. The mainstay of therapy at the time of diagnosis is a high-dose corticosteroid (oral or intravenous) in combination with methotrexate. CONCLUSION: For mild to moderate active muscle disease, early aggressive treatment with high-dose oral prednisone alone or in combination with methotrexate is the cornerstone of management. Pulse intravenous methylprednisolone is often preferred to oral prednisone in more severely affected patients, patients who respond poorly to oral prednisone, and those with gastrointestinal vasculopathy. Other steroid-sparing immunosuppressive agents such as cyclosporine and cyclophosphamide are reserved for patients with contraindications or intolerance to methotrexate and for refractory cases, as the use of these agents is associated with more adverse events. Various biological agents have been used in the treatment of juvenile dermatomyositis. Data on their efficacy are limited, and their use in the treatment of juvenile dermatomyositis is considered investigational.

Bilateral harlequin syndrome, unilateral Horner syndrome, and Riga-Fede disease as presenting features of hereditary sensory and autonomic neuropathy type IV.

Hereditary sensory and autonomic neuropathy (HSAN) type IV, also known as congenital insensitivity to pain with anhidrosis (OMIM 256800), is part of a family of neurodegenerative disorders that manifest with variable sensory and autonomic neuropathies. In this report, we present a unique dermatological finding in a patient with HSAN type IV: bilateral harlequin syndrome that occurred in association with unilateral Horner syndrome, traumatic alopecia and Riga-Fede disease.