RESUMO
Kindler syndrome (KS) is a rare photosensitivity disorder with autosomal recessive mode of inheritance. It is characterized by acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. Besides these major features, many minor presentations have also been reported in the literature. We are reporting two cases with atypical features of the syndrome and a new feature of recurrent neutropenia. Whole exome sequencing analysis was done using next-generation sequencing which detected a homozygous loss-of-function (LOF) variant of FERMT1 in both patients. The variant is classified as a pathogenic variant as per the American College of Medical Genetics and Genomics guidelines. Homozygous LOF variants of FERMT1 are a common mechanism of KS and as such confirm the diagnosis of KS in our patients even though the presentation was atypical.
RESUMO
Guselkumab is an IL-23 inhibitor that binds to the p19 subunit of IL-23 that is highly efficacious and well tolerated for the treatment of moderate-to-severe plaque psoriasis. We report a 20-year-old male who developed sensorimotor axonal polyneuropathy starting treatment with guselkumab, confirmed by neurological examination and serial neurophysiologic studies. His symptoms improved within 5 months of stopping the treatment. The neurophysiologic studies also showed improvement but with continued neuropathy and re-innervation changes on electromyography after about 10 months of stopping treatment. The time line of symptoms and a positive de-challenge are strong but not definitive evidence of guselkumab as a cause.
Assuntos
Polineuropatias , Psoríase , Adulto , Anticorpos Monoclonais/uso terapêutico , Anticorpos Monoclonais Humanizados , Humanos , Interleucina-23 , Masculino , Polineuropatias/induzido quimicamente , Polineuropatias/tratamento farmacológico , Psoríase/diagnóstico , Psoríase/tratamento farmacológico , Índice de Gravidade de Doença , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: Dermatology practice has been impacted in the modern era of connectivity and social media (SM). Users' choice of dermatology practice may be influenced by SM. This study surveyed dermatologists for the use of SM as part of their practice, and the general population to assess the effect of SM on the practice of dermatology. METHODS: This nationwide, cross-sectional study among dermatologists and the general population used two questionnaires, with the first (S1) targeting a random sample of the Saudi general population and the second (S2) addressing dermatologists. RESULTS: Out of 965 participants in the first questionnaire. 53.78% (n = 519) of the responders followed dermatologists on SM, 57.8% did so to learn about treatment of dermatologic diseases. On the other hand, the S2 was completed by 58 dermatologists. Of them, 82.8% believed that SM had changed the practice of dermatology, 98.3% (n = 57) believed that it changed their own practice. When following a dermatologist on SM, a main reason (26.5%) was to evaluate before-and-after images. CONCLUSION: SM plays a significant role in a physician's reputation and the practice of dermatology. It is a new era that is mainly fueled by technology; keeping pace with these advancements is an essential way to thrive.
Assuntos
Dermatologia , Mídias Sociais , Estudos Transversais , Dermatologistas , Humanos , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Pulmonary fibrosis is one of the leading indications for lung transplantation. The disease, which is of unknown aetiology, can be progressive, resulting in distortion of the extracellular matrix (ECM), inflammation, fibrosis and eventual death. METHODS: 13 patients born to consanguineous parents from two unrelated families presenting with interstitial lung disease were clinically investigated. Nine patients developed respiratory failure and subsequently died. Molecular genetic investigations were performed on patients' whole blood or archived tissues, and cell biological investigations were performed on patient-derived fibroblasts. RESULTS: The combination of a unique pattern of early-onset lung fibrosis (at 12-15â years old) with distinctive radiological findings, including 1) traction bronchiectasis, 2) intralobular septal thickening, 3) shrinkage of the secondary pulmonary lobules mainly around the bronchovascular bundles and 4) early type 2 respiratory failure (elevated blood carbon dioxide levels), represents a novel clinical subtype of familial pulmonary fibrosis. Molecular genetic investigation of families revealed a hypomorphic variant in S100A3 and a novel truncating mutation in S100A13, both segregating with the disease in an autosomal recessive manner. Family members that were either heterozygous carriers or wild-type normal for both variants were unaffected. Analysis of patient-derived fibroblasts demonstrated significantly reduced S100A3 and S100A13 expression. Further analysis demonstrated aberrant intracellular calcium homeostasis, mitochondrial dysregulation and differential expression of ECM components. CONCLUSION: Our data demonstrate that digenic inheritance of mutations in S100A3 and S100A13 underlie the pathophysiology of pulmonary fibrosis associated with a significant reduction of both proteins, which suggests a calcium-dependent therapeutic approach for management of the disease.
Assuntos
Pulmão/patologia , Fibrose Pulmonar/genética , Fibrose Pulmonar/fisiopatologia , Proteínas S100/genética , Adolescente , Criança , Saúde da Família , Feminino , Predisposição Genética para Doença , Heterozigoto , Humanos , Masculino , Mutação , Linhagem , Fibrose Pulmonar/diagnóstico , Arábia SauditaRESUMO
D-penicillamine (DPA)-induced pseudo-pseudoxanthoma elasticum (PXE) and elastosis perforans serpiginosa (EPS) has been reported in the past, but most of the treatment modalities used before have a sub.optimal response. We report a case of DPA-induced pseudo-PXE with extensive EPS who had an excellent rapid response to acitretin. To the best of our knowledge no such report has been published in the past, even though there is a single report of effectiveness of isotretinoin in elastosis perforans serpiginosa. SIMILAR CASES PUBLISHED: One similar case but with a different medication (reference 13).
Assuntos
Acitretina/uso terapêutico , Ceratolíticos/uso terapêutico , Penicilamina/efeitos adversos , Pseudoxantoma Elástico/tratamento farmacológico , Dermatopatias/tratamento farmacológico , Adulto , Degeneração Hepatolenticular/tratamento farmacológico , Humanos , Masculino , Pseudoxantoma Elástico/induzido quimicamente , Dermatopatias/induzido quimicamente , Resultado do TratamentoRESUMO
BACKGROUND: Pemphigus is a chronic potentially life-threatening autoimmune blistering disease affecting the skin and/or mucous membranes. Rituximab is being increasingly used and found efficacious in the treatment of pemphigus. OBJECTIVE: To present the Middle-Eastern experience with the use of rituximab in pemphigus. METHODS: A retrospective analysis of patient files was conducted which revealed 23 patients of pemphigus who were treated with rituximab (either alone or with IVIG) in the dermatology department of a tertiary care hospital from July 2004 to December 2014. RESULTS: The mean time to disease control was 8 weeks (median 5 weeks and range 2-30 weeks). 90.9% attained early study end point with the first cycle of rituximab. The remaining 9.1% needed an additional course of rituximab + IVIG to attain disease control. 90.5% of our patients attained complete remission during the study period. The average time to attain complete remission on minimal treatment was 25.4 weeks and partial remission on minimal treatment was attained after a mean period of 18.3 weeks. Rituximab was well tolerated by our patients and the rate of adverse-effects in our cohort was comparable to the previous reports. CONCLUSIONS: Rituximab is an effective and safe treatment for pemphigus and should be considered earlier in the algorithm of pemphigus treatment.
Assuntos
Imunoglobulinas Intravenosas/administração & dosagem , Pênfigo/tratamento farmacológico , Rituximab/uso terapêutico , Adulto , Idoso , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Rituximab/administração & dosagemRESUMO
BACKGROUND/OBJECTIVES: Many dermatologic and systemic diseases have been reported in association with hidradenitis suppurativa, but its association with Down syndrome is rarely mentioned in the literature. The objective of the current study was to assess the frequency of hidradenitis suppurativa in patients with Down syndrome who visited our clinic over 4 years. METHODS: We recorded the presenting complaints and dermatologic problems of patients with Down syndrome who visited our clinic from January 2011 to December 2014. Medical photographs were taken. Patients with hidradenitis suppurativa were assessed according to severity and treated with topical and systemic medications. RESULTS: Twenty-nine new patients with Down syndrome visited our clinic during this period. Eleven had hidradenitis suppurativa. Disease severity included Hurley stages I and II. CONCLUSION: The presence of hidradenitis suppurativa in 38% of patients with Down syndrome is far higher than would be expected by chance alone.
Assuntos
Síndrome de Down/complicações , Hidradenite Supurativa/epidemiologia , Adolescente , Adulto , Feminino , Hidradenite Supurativa/complicações , Humanos , Masculino , Estudos Prospectivos , Arábia Saudita/epidemiologia , Adulto JovemRESUMO
Acroangiodermatitis (AAD) (synonym, pseudo-Kaposi sarcoma) is a term that encompasses 2 different conditions: (1) AAD of Mali, which refers to skin lesions that mainly develop bilaterally on the lower extremities of patients with chronic venous insufficiency and is an extreme form of stasis dermatitis and (2) Stewart-Bluefarb syndrome, which consists of an arteriovenous malformation that mainly affects the limbs of young patients unilaterally. We present a case of a 68-year-old lady with progressive skin lesions on both lower limbs (right > left) as a result of chronic venous insufficiency that became worse after the leg-vein harvest for coronary artery bypass grafting was taken from the right leg. Up to our knowledge this is the first case of its kind to be reported.
Assuntos
Acrodermatite/etiologia , Angiomatose/etiologia , Perna (Membro)/irrigação sanguínea , Coleta de Tecidos e Órgãos/efeitos adversos , Insuficiência Venosa/complicações , Acrodermatite/patologia , Idoso , Angiomatose/patologia , Malformações Arteriovenosas/patologia , Doença Crônica , Progressão da Doença , Feminino , Humanos , Perna (Membro)/cirurgia , SíndromeRESUMO
BACKGROUND: The typical presentation of infantile hemangioma is well known and is easily recognizable. However, it may have many atypical presentations, as reported in the literature. Most of the hemangiomas are not visible at birth and become apparent at about 3 to 4 weeks of age. There are very few case reports of hemangioma presenting as a pale patch in the dermatology literature, and none of them describe the etiopathogenesis of this presentation and its clinical implications. OBJECTIVE AND CONCLUSION: We report a case of an infantile hemangioma with a trichrome presentation: an erythematous oval patch with a dark red macule at the periphery enclosed by a hypopigmented halo. A brief description of the etiopathogenesis of the pallor sign is also given.
Assuntos
Hemangioma Capilar/patologia , Hipopigmentação/etiologia , Síndromes Neoplásicas Hereditárias/patologia , Palidez/etiologia , Neoplasias Cutâneas/patologia , Feminino , Hemangioma Capilar/complicações , Humanos , Recém-Nascido , Síndromes Neoplásicas Hereditárias/complicações , Neoplasias Cutâneas/complicaçõesRESUMO
BACKGROUND: Epidermolysis Bullosa (EB) is a genetically determined mechano-bullous disorder of the skin encompassing a group of conditions that share skin fragility as a common feature. MATERIALS AND METHODS: Twele patients with Epidermolysis Bullosa from Kashmir valley are reported. RESULTS: Our series included 12 patients, 5 males and 7 females. Features were consistent with EB simplex in 8 patients, EB pruriginosa in 2 patients, generalized atrophic benign EB in one patient and EB acquista in one patient. CONCLUSION: EB is a rare, genetically determined, blistering disorder affecting both males and females with predominant involvement of hands and feet. In the absence of specific therapy, treatment mainly involves avoidance of provoking factors, prevention and treatment of complications.