RESUMEN
Proliferative nodules (PNs) are benign nodular proliferation of melanocytes occurring within congenital melanocytic naevi (CMN). Differential diagnosis between PN and melanoma is challenging for clinicians and pathologists. We describe the case of a 9-month-old boy who developed multiple nodules arising in a medium-sized CMN. Clinically, pink papules were observed, with dotted vessels on dermoscopy, suggesting spitzoid PN. On histopathological examination, the dermoscopic findings correlated with the vertical vessels of a spitzoid PN. Dermoscopy could be a useful tool to differentiate PN from melanoma. However, further studies describing the dermoscopic features of the different PN subtypes are needed. Histopathology remains the gold standard for definitive diagnosis aided by ancillary molecular tests such as fluorescence in situ hybridization or comparative genomic hybridization.
Asunto(s)
Melanoma , Nevo de Células Epitelioides y Fusiformes , Nevo Pigmentado , Neoplasias Cutáneas , Hibridación Genómica Comparativa , Diagnóstico Diferencial , Humanos , Hibridación Fluorescente in Situ , Lactante , Masculino , Melanoma/patología , Nevo Pigmentado/diagnóstico por imagen , Neoplasias Cutáneas/patologíaRESUMEN
Bluish nodular mammary lesions in prepubertal girls are a challenging diagnosis. Retroareolar cysts are rare in this population, but relatively common among adolescent women. This diagnosis can be suspected clinically and ultimately confirmed by cutaneous ultrasonography, avoiding unnecessary biopsies or complex radiologic studies.
Asunto(s)
Quistes , Adolescente , Biopsia , Mama , Quistes/diagnóstico por imagen , Femenino , Humanos , UltrasonografíaRESUMEN
We report a 6-year-old female with linear skin hyperpigmentation on the axillae and groin, intellectual disability, dysplastic teeth and nails, and facial dysmorphism who was diagnosed with a novel PHF6 pathogenic splicing variant. Males with PHF6 mutations have been associated with the X-linked recessive disorder Börjeson-Forssman-Lehmann, but females have a distinct phenotype which is likely modulated by X-inactivation.
Asunto(s)
Epilepsia , Hipogonadismo , Discapacidad Intelectual , Discapacidad Intelectual Ligada al Cromosoma X , Proteínas Portadoras/genética , Niño , Cara , Femenino , Dedos , Trastornos del Crecimiento , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Masculino , Mosaicismo , Proteínas RepresorasAsunto(s)
Acrilatos/efectos adversos , Canfanos/efectos adversos , Teléfono Celular/instrumentación , Dermatitis Alérgica por Contacto/etiología , Dermatitis Profesional/etiología , Dermatosis de la Mano/inducido químicamente , Adulto , Dermatitis Alérgica por Contacto/diagnóstico , Dermatitis Profesional/diagnóstico , Femenino , Dermatosis de la Mano/diagnóstico , Humanos , Pruebas del ParcheRESUMEN
Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare but severe drug hypersensitivity reaction with potentially life-threatening consequences. It is characterised by fever, extensive maculopapular exanthema, lymph node enlargement, abnormal blood cell counts, and organ-related complications. Diagnosis can be challenging due to incomplete or non-specific symptoms, and it can sometimes manifest as a purely systemic disease. Discontinuation of the causative drug is essential. Treatment may involve corticosteroids and supportive care. Genetic screening for specific markers, such as human leucocyte antigen (HLA)-A*68, A11:01, and A29:02, can help identify individuals at risk for severe reactions to benznidazole, a drug used to treat Chagas disease. This case report describes the rarity and severity of DRESS syndrome, underscoring the potential benefit of genetic screening to prevent adverse reactions in patients with Chagas disease.
RESUMEN
Calcinosis cutis (CC) is characterized by deposit of calcium salts in the skin and subcutaneous tissue; its clinical presentation consists of indurated painful nodules, which can ulcerate and become superinfected. CC treatment remains a challenge, yet successful treatment with intralesional (IL) sodium thiosulfate (STS) has been reported in several CC subtypes. Herein we are reporting on a case series of 5 patients with CC successfully treated with IL-STS. We describe the 18-22 MHz ultrasound characteristics of the lesions and on follow-up after treatment. Ultrasound imaging was useful in guiding IL-STS injections and confirming response to treatment.
Asunto(s)
Calcinosis , Tiosulfatos , Humanos , Estudios de Seguimiento , Tiosulfatos/uso terapéutico , Calcinosis/diagnóstico por imagen , Calcinosis/tratamiento farmacológico , Calcinosis/patología , UltrasonografíaRESUMEN
Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease characterized by the presence of painful nodules, abscesses, chronically draining fistulas, and scarring in apocrine gland-bearing areas of the body. The exact pathogenesis of HS is not yet well understood, but there is a consensus in considering HS a multifactorial disease with a genetic predisposition, an inflammatory dysregulation, and an influence of environmental modifying factors. Therapeutic approach of HS is challenging due to the wide clinical manifestations of the disease and the complex pathogenesis. This review describes evidence for effectiveness of current and emerging HS therapies. Topical therapy, systemic treatments, biological agents, surgery, and light therapy have been used for HS with variable results. Adalimumab is the only US Food and Drug Administration (FDA) approved biologic agent for moderate-to-severe HS, but new therapeutic options are being studied, targeting different specific cytokines involved in HS pathogenesis. Comparing treatment outcomes between therapies is difficult due to the lack of randomized controlled trials. Treatment strategy should be selected in concordance to disease severity and requires combination of treatments in most cases.
RESUMEN
Introduction: Psoriasis vulgaris is a chronic inflammatory skin disease characterized by well-demarcated red and scaly plaques. Most patients have mild disease that is usually controlled with topical treatment. Calcipotriene 0.05% and betamethasone dipropionate 0.064% (Cal/BD) in aerosol foam (Enstilar®) is a novel formulation, which has shown promising results in terms of efficacy and safety.Areas covered: This review evaluates the safety profile of Cal/BD aerosol foam and also the key points regarding its efficacy. A literature search was performed in PubMed in November 2019 from the start of records. Additional references were searched and retrieved manually.Expert opnion: Cal/BD aerosol foam has proven its efficacy, safety, and tolerability in several clinical trials and real clinical practice. It has also demonstrated higher efficacy than the ointment and gel formulations of the fixed combination. It has a low incidence of adverse events; nasopharyngitis and site application pain were the most frequently reported. Moreover, it is devoid of changes in calcium homeostasis and hypothalamic-pituitary-adrenal axis. As a result of its unique formulation, it is easily spread, is rapidly absorbed, and has a rapid onset of action. These features upgrade patient's satisfaction and they may increase adherence to topical therapy.