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Although rare, cases of infantile or childhood bullous pemphigoid are increasingly being reported in the literature. Treatment challenges, which are amplified in infancy, necessitate balancing efficacy and avoiding long-term risks. In this report, clarithromycin was successfully used to establish and maintain disease remission, offering insights into its immunomodulatory effects, making it a compelling steroid-sparing choice with a favorable side effect profile.
Assuntos
Penfigoide Bolhoso , Humanos , Criança , Penfigoide Bolhoso/tratamento farmacológico , Claritromicina/uso terapêutico , Esteroides/uso terapêuticoRESUMO
Infantile hemangiomas (IHs) are the most common benign vascular tumors of childhood. They develop during the first few weeks of life and naturally progress by proliferating over several months before they involute and resolve; this renders them inconsequential in many cases, but sometimes IHs can have detrimental consequences on function and disfigurement. Hence, systemic propranolol has become a crucial element in IH management, alongside various other medical, procedural, and surgical options that aim to promote their quicker resolution and prevent and alleviate complications.
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Hemangioma Capilar , Hemangioma , Neoplasias Cutâneas , Hemangioma/terapia , Hemangioma Capilar/terapia , Humanos , Lactente , Propranolol/uso terapêutico , Neoplasias Cutâneas/terapia , Resultado do TratamentoRESUMO
The term 'inherited ichthyosis' refers to a heterogeneous group of mendelian disorders of cornification that involve the integument with varying degrees of scaling. The management of ichthyosis poses a challenge for most physicians. Treatment options proposed in the literature include moisturizers, topical keratolytics, topical and systemic vitamin D analogues, and topical and systemic retinoids; however, some of these modalities are less reliable than others. Despite the therapeutic impasse imposed by the options above, the emergence of pathogenesis-based treatments along with novel gene therapies appear promising and hold the potential to halt or even revert disorders that arise from single genetic mutations, although research is still quite lacking in this domain. Hence, this review aims to highlight the various treatment modalities available for the management of the cutaneous manifestations of non-syndromic inherited ichthyosis, with an added emphasis on pathogenesis-targeted therapies.
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Ictiose , Humanos , Ictiose/genética , Ictiose/terapia , Ceratolíticos/uso terapêutico , Mutação , Retinoides/uso terapêutico , Vitamina DRESUMO
BACKGROUND: Heredity Hypotrichosis Simplex (HHS) is a rare non-syndromic disease form of Hypotrichosis Simplex (HS) characterized by progressive hair follicle (HF) miniaturization. It is usually inherited in an autosomal dominant manner. The differential diagnosis of HHS and the treatments remain challenging despite recent advancement. In this report, we describe a 19-year old female affected with HHS alongside most of her family members. METHODS: Whole Exome Sequencing (WES) was performed for some of the family members to unravel the culprit gene involved in HHS phenotype and ascertain the dermatological examination that was done to classify the phenotypes of the disease. RESULTS: A novel pathogenic variant in the CDH3 gene (p.Ser223GlyfsTer4) was identified as a plausible disease-causing variant for HHS. CONCLUSION: This is the first report to associate CDH3 variants with a HHS phenotype without macular degeneration using WES. WES is an important tool for genotype-phenotype correlation, precision in diagnosis, and in-depth understanding of the disease mechanisms, leading to possible novel therapeutic targets treatment and better patient's outcomes.
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Eritema Endurado , Vacina BCG/efeitos adversos , Humanos , Imunoterapia/efeitos adversos , PeleRESUMO
Eosinophilic ulcer of the oral mucosa is a benign, reactive, self-limited lesion. Its pathogenesis is unclear, and it clinically manifests as a punched-out ulcer with surrounding indurated border, raising suspicion for a possible malignancy. On histology, an acute and chronic dense inflammatory infiltrate can be appreciated, which can extend to the deep underlying tissue (including skeletal muscle). Eosinophils are especially conspicuous on hematoxylin and eosin staining and might play an important role in the development of the ulcer. Removal of possible triggers followed by monitoring and possible biopsy are among the initial recommendations. Most lesions heal spontaneously without the need for intervention. This review aims at assisting dermatologists to easily recognize this entity, avoiding unnecessary interventions and apprehension.
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Eosinofilia , Úlceras Orais , Amarelo de Eosina-(YS) , Eosinofilia/diagnóstico , Eosinofilia/etiologia , Eosinofilia/terapia , Hematoxilina , Humanos , Mucosa Bucal/patologia , Úlceras Orais/etiologia , Úlceras Orais/terapia , Úlcera/complicações , Úlcera/patologiaRESUMO
Children with genodermatoses are at an increased risk of developing behavioural disorders which may impart lasting damage on the individual and their family members. As such, early recognition of childhood mental health disorders via meticulous history taking, thorough physical examination, and disorder-specific testing is of paramount importance for timely and effective intervention. If carried out properly, prompt psychiatric screening and intervention can effectively mitigate, prevent or even reverse, the psychiatric sequela in question. To that end, this review aims to inform the concerned physician of the manifestations and treatment strategies relevant to the psychological sequelae of genodermatoses.
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Transtornos Mentais , Dermatopatias Genéticas , Criança , Humanos , Transtornos Mentais/diagnóstico , Transtornos Mentais/etiologia , Transtornos Mentais/psicologia , Dermatopatias Genéticas/complicaçõesRESUMO
-A 14-month-old boy born to consanguineous parents presented to our Dermatology Department with a 6-month history of a malar eczematous rash that worsens with sun exposure. He had butterfly-shaped, hyperpigmented exfoliating plaques, preceded by blister formation (figure 1). He was also noticed to have enophthalmos, a pinched nose, microcephaly and a cachectic physique. His height and weight were below the first percentile for his age. In addition, the patient was noticed to have motor and psychosocial delay; he does not respond to simple spoken requests, cannot get into sitting position without help or stand/walk with help of furniture. The eye examination was completely normal including the absence of retinal and corneal changes. Complete blood count, liver function tests and a karyotype did not show any abnormal findings. Imaging studies were not done.edpract;107/1/28/F1F1F1Figure 1Clinical image. A hyperpigmented exfoliating plaque distributed over the malar area associated with enophthalmos and a pinched nose. WHAT'S YOUR DIAGNOSIS?: Bloom syndrome.Rothmund Thomson syndrome.Cockayne syndrome.Xeroderma pigmentosum.Trichothiodystrophy. Answers can be found on page 02.
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Exantema , Xeroderma Pigmentoso , Estatura , Humanos , Lactente , MasculinoRESUMO
Amyloid is a protein derived from at least 20 different substances. Once misfolded, it results in a group of cutaneous and systemic conditions. Primary localized cutaneous amyloidosis of keratinocyte origin is a very common subtype that can manifest either as lichen or macular amyloidosis, lacking systemic involvement. Lichen amyloidosis often presents as multiple hyperpigmented papules on the lower extremities whereas macular amyloidosis is classically characterized by dark brown rippled macules on the interscapular area. Review of the literature reveals that in addition to the classical presentation of primary localized cutaneous amyloidosis there exists a plethora of various manifestations that can be grouped into either geographic or morphologic categories. This review provides clinicians with the intimate knowledge of these presentations and summarizes the available treatment modalities.
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Amiloidose Familiar/patologia , Amiloidose Familiar/terapia , Queratinócitos/patologia , Dermatopatias Genéticas/patologia , Dermatopatias Genéticas/terapia , HumanosRESUMO
Hearing loss is a prominent feature in multiple genodermatoses. Underappreciation of auditory deficits can misdirect proper diagnosis by the treating dermatologist. This review reviews the anatomic, developmental, and embryologic aspects that characterize the ear and summarizes genodermatoses that have aberrant auditory findings. The latter are classified into neural crest, metabolic, pigmentary, craniofacial, and a miscellaneous category of disorders lacking specific cutaneous findings. The algorithms provided in this review enable treating dermatologists to better recognize and manage genodermatoses with ear involvement.
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Perda Auditiva , Surdez , Perda Auditiva/diagnóstico , Perda Auditiva/genética , HumanosAssuntos
Adenocarcinoma Sebáceo/diagnóstico , Adenoma/diagnóstico , Alphapapillomavirus , Nitrilas/efeitos adversos , Infecções por Papillomavirus/diagnóstico , Pirazóis/efeitos adversos , Pirimidinas/efeitos adversos , Neoplasias das Glândulas Sebáceas/diagnóstico , Adenocarcinoma Sebáceo/etiologia , Adenoma/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Infecções por Papillomavirus/etiologia , Mielofibrose Primária/tratamento farmacológico , Neoplasias das Glândulas Sebáceas/etiologiaRESUMO
Imatinib mesylate is a tyrosine kinase inhibitor used in the treatment of a variety of oncological conditions. It has been associated with a spectrum of pigmentary cutaneous side effects. Despite the well-known association of eruptive melanocytic nevi with the use of other tyrosine kinase inhibitors, this phenomenon has not been linked to the administration of imatinib. We present the first case of imatinib-induced eruptive nevi in an 18-year-old patient with acute lymphocytic leukaemia in remission.
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Mesilato de ImatinibRESUMO
ABSTRACT: Osteoclast-like giant cells (OLGCs) resemble osteoclasts with their abundant cytoplasm and well-developed organelles. OLGCs are characteristic features of giant cell tumor of the tendon sheath and giant cell tumor of soft tissue but they have also been described in numerous other cutaneous conditions. The diagnostic and prognostic significance of the presence of OLGCs is unknown. Here, we summarize the clinical entities that can exhibit these cells to avoid a histological overlap, affecting diagnosis and management.
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Células Gigantes/patologia , Osteoclastos/patologia , Dermatopatias/patologia , Pele/patologia , Biópsia , Células Gigantes/metabolismo , Humanos , Osteoclastos/metabolismo , Fenótipo , Pele/metabolismo , Dermatopatias/metabolismoRESUMO
Neuroendocrine differentiation is characterized by endocrine and neuronal features with prominent dense secretory granules and neuropeptides. Neuroendocrine differentiation of skin tumors is of unknown clinical significance. Nonetheless, the acknowledgment of this line of differentiation is important to prevent diagnostic pitfalls and subsequent inappropriate management. This review aims at summarizing the skin neoplasms that can express neuroendocrine markers.
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Diferenciação Celular , Tumores Neuroendócrinos/patologia , Neoplasias Cutâneas/patologia , Biomarcadores Tumorais/análise , Carcinoma de Célula de Merkel/química , Carcinoma de Célula de Merkel/patologia , Diagnóstico Diferencial , Humanos , Imuno-Histoquímica , Tumores Neuroendócrinos/química , Valor Preditivo dos Testes , Neoplasias Cutâneas/químicaRESUMO
A 55-year-old male, previously known to be healthy, presented to the emergency department with a 30-minute history of chest pain radiating to the upper extremities. Vital signs were within normal limits. Four days prior to this presentation, the patient presented for acute onset of polyarthritis and morning stiffness. Significantly elevated titres of anti-cyclic citrullinated peptides (anti-CCP) were found. In the emergency department, electrocardiography showed ST segment elevations in leads V1 to V5 and aVL. Cardiac enzymes were elevated. The patient underwent cardiac catheterization. A coronary angiography revealed an ectatic proximal left anterior descending (LAD) coronary artery with critical (90-99%) stenosis at the mid segment. A drug-eluting stent was successfully inserted in the LAD without any residual stenosis. Although it is known that anti-CCP positivity is a key element in the pathogenesis of atherosclerosis in RA patients, this case report adds to the existing body of literature which demonstrates that anti-CCP positivity is an independent risk factor for development of cardiovascular events.
RESUMO
Psoriasis is an inflammatory skin disorder that is strongly associated with the metabolic syndrome. The sole reliance on clinical examination to guide prognostication and treatment is insufficient at best; accurate diagnostic and prognostic psoriatic molecular biomarkers are needed. Soluble urokinase plasminogen activator receptor (suPAR) has been implicated in inflammation. The aim of this study is to determine whether suPAR plays a role in the pathogenesis of psoriasis and whether an association exists between suPAR levels, disease severity, and other variables like insulin, erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP). This study also compares the pattern of uPAR staining in healthy vs psoriatic skin: 39 psoriatic and 30 control subjects were included. Two biopsies (affected and unaffected skin) and one biopsy were taken from psoriasis patients and healthy controls, respectively, with uPAR staining of all skin biopsies. Blood samples from all subjects were obtained to determine suPAR, ESR, CRP, and fasting insulin levels. uPAR staining was prominent in unaffected skin from psoriasis patients and healthy individuals vs weak/absent uPAR staining in psoriatic skin. CRP, ESR and suPAR levels were not significantly elevated in the mild psoriasis group compared to healthy controls. The loss of epidermal uPAR is suggestive of its tentative role in the pathogenesis of psoriasis. Patients with mild-moderate psoriasis possibly lack the powerful association attributed to metabolic syndrome in psoriatic patients. Further studies on larger cohorts are needed to ascertain the validity of the mentioned conclusions.