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1.
Indian J Otolaryngol Head Neck Surg ; 76(4): 3612-3616, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39130328

RESUMEN

This report details the surgical management of a rare case of hidradenocarcinoma in a 70-year-old man presenting as a large multilobulated swelling on the dorsum of the nose. Following histopathological confirmation, the patient underwent wide complete excision of the tumour, coupled with sentinel lymph node dissection. Reconstruction involved the use of a paramedian forehead flap and cheek advancement flap. The successful outcome underscores the importance of early diagnosis and a comprehensive surgical approach for managing hidradenocarcinoma on the nasal dorsum.

2.
Int J Dermatol ; 2024 Jul 02.
Artículo en Inglés | MEDLINE | ID: mdl-38955458

RESUMEN

BACKGROUND: Neurofibromatosis type 2 (NF2) is a rare autosomal dominant syndrome with a predisposition to the development of central nervous system tumors, ophthalmic manifestations, and dermatological lesions. The latter are present in 70-95% of patients and can precede the evolution of other tumors. However, they are not included in the diagnostic criteria and are frequently undervalued during follow-up. METHODS: An observational cross-sectional study characterizing cutaneous lesions in a cohort of NF2 patients was carried out. Dermatological examinations were performed, and lesions were classified into neural cutaneous tumors (superficial, SNCT, and deep, DNCT), hyperpigmented patches (HyperP), and hypopigmented patches (HypoP). The Dermatology Life Quality Index (DLQI) and EQ-5D questionnaires were applied to evaluate the impact on quality of life. RESULTS: Nineteen patients with a mean age of 36 years were included. Sixteen (84%) patients had cutaneous lesions, mostly developed 10 or more years before the diagnosis. SNCT, DNCT, and HyperP showed similar frequencies (58%). HypoP were observed in only one patient. HyperP developed, on average, earlier than NCT (9.6 vs. 16.5 SNCT, 17.0 DNCT; years). The excised lesions had different histological patterns, including neurofibromas, schwannomas, and a hybrid tumor. Most patients reported a low impact of cutaneous manifestations on the quality of life (DLQI 0 or 1). CONCLUSIONS: Cutaneous lesions are frequent in NF2 and may precede the diagnosis by several years. Their identification is important to establish the diagnosis earlier and potentially reduce morbidity and mortality.

3.
IDCases ; 36: e01961, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38699524

RESUMEN

Kaposi Sarcoma (KS) commonly manifests with multiple vesicular cutaneous and mucosal nodules, with four subtypes clinically recognized. Although commonly seen in younger men, our patient presented with presumed epidemic KS at an older age. Additionally, our patient presented with Kaposi sarcoma during primary HIV infection which is atypical for Kaposi sarcoma presentation. The patient's clinical course is important to follow, as his rectal involvement indicates the patient would benefit from systemic therapy. Furthermore, our case highlights the need for a keen clinical index of suspicion in all patients with new HIV diagnosis and new onset suspicious lesions, regardless of age.

4.
IDCases ; 36: e01943, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38646599

RESUMEN

Malignant syphilis (MS) is a rare variant of secondary syphilis. Also known as rupioid syphilis, MS is characterized by the presence of multiple papules, papulopustules, black lamellate crust that may resemble an oyster shell, or nodules with ulceration lacking central clearing. MS is often associated with immunodeficiency and frequently co-occurs with HIV infection. We here report a case of MS in a patient with HIV infection. HIV infection can cause atypical clinical symptoms of syphilis. In this case, unlike previous cases, cutaneous lesions of MS were limited to the face, making the diagnosis challenging based on clinical findings alone. However, his laboratory findings, appearance of the Jarisch-Herxheimer reaction, and a dramatic response to antibiotic therapy are characteristic of MS, making the diagnosis even more certain. Our case suggests the importance of physicians considering the possibility of MS when observing black-crusted lesions.

5.
Int Wound J ; 21(4): e14807, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38591163

RESUMEN

Skin Cutaneous Melanoma (SKCM) is a form of cancer that originates in the pigment-producing cells, known as melanocytes, of the skin. Delay wound healing is often correlated with the occurrence of and progression of SKCM. In this comprehensive study, we investigated the intricate roles of two important wound healing genes in SKCM, including Matrix Metalloproteinase-2 (MMP2) and Matrix Metalloproteinase-9 (MMP9). Through a multi-faceted approach, we collected clinical samples, conducted molecular experiments, including RT-qPCR, bisulphite sequencing, cell culture, cell Counting Kit-8, colony formation, and wound healing assays. Beside this, we also used various other databases/tools/approaches for additional analysis including, UALCAN, GEPIA, HPA, MEXPRESS, cBioPortal, KM plotter, DrugBank, and molecular docking. Our results revealed a significant up-regulation of MMP2 and MMP9 in SKCM tissues compared to normal counterparts. Moreover, promoter methylation analysis suggested an epigenetic regulatory mechanism. Validations using TCGA datasets and immunohistochemistry emphasized the clinical relevance of MMP2 and MMP9 dysregulation. Functional assays demonstrated their synergistic impact on proliferation and migration in SKCM cells. Furthermore, we identified potential therapeutic candidates, Estradiol and Calcitriol, through drug prediction and molecular docking analyses. These compounds exhibited binding affinities, suggesting their potential as MMP2/MMP9 inhibitors. Overall, our study elucidates the diagnostic, prognostic, and therapeutic implications of MMP2 and MMP9 in SKCM, shedding light on their complex interplay in SKCM occurrence and progression.


Asunto(s)
Melanoma , Neoplasias Cutáneas , Humanos , Melanoma/genética , Melanoma/terapia , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/terapia , Metaloproteinasa 2 de la Matriz/genética , Metaloproteinasa 9 de la Matriz , Simulación del Acoplamiento Molecular , Cicatrización de Heridas/genética , Mutación , Metilación
6.
Int Wound J ; 21(3): e14812, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38444059

RESUMEN

Kawasaki disease (KD) is one of the most challenging diseases that is defined as an acute vasculitis that affects the coronary arteries primarily in children. It causes complications if left untreated at early stages, ultimately leading to death. Corticosteroids have been recognized to treat and cause great impact on the patients with KD. Glucocorticoid is one of the main corticosteroids that are being used to treat KD and cutaneous wounds. However, ineffectiveness of a few glucocorticoids can limit the efficacy of this treatment. This study particularly aimed to elucidate the impact of glucocorticoids on cutaneous wounds in KD. To perform the meta-analysis, a comprehensive literature survey was conducted to unveil the studies and research conducted on Kawasaki patients that revealed different glucocorticoids in the form of specific interventions influencing KD. The literature was searched using numerous keywords, screened and data was extracted to perform the meta-analysis and then it was conducted using the metabin function of R package meta. A total of 2000 patients from both intervention and control groups were employed to carry out the meta-analysis to analyse and evaluate the impact of glucocorticoids on curing KD and cutaneous wounds in patients. The results disclosed that glucocorticoids along with other steroids, mainly IVIG (intravenous immunoglobulin), was an effective intervention to patients suffering from Kawasaki. The results depicted significant outcomes with the values (risk ratio [RR]: 1.08, 95% confidence interval [CI]: 0.58-2.00, p < 0.01) and enlightened the fact that adopting different glucocorticoids may significantly improve the efficacy of skin lesions along with KD. Hence, interventions of glucocorticoids must be utilized in the clinical practice to reduce the incidence of skin wounds and adverse effects caused due to KD.


Asunto(s)
Síndrome Mucocutáneo Linfonodular , Traumatismos de los Tejidos Blandos , Niño , Humanos , Síndrome Mucocutáneo Linfonodular/tratamiento farmacológico , Glucocorticoides/uso terapéutico , Ensayos Clínicos Controlados Aleatorios como Asunto , Oportunidad Relativa
7.
Med Microbiol Immunol ; 213(1): 4, 2024 Mar 27.
Artículo en Inglés | MEDLINE | ID: mdl-38532203

RESUMEN

Besides being scarce, the drugs available for treating cutaneous leishmaniasis have many adverse effects. Ozone is an option to enhance the standard treatment due to the wound-healing activity reported in the literature. In this study, we evaluated the efficiency of ozonated sunflower oil as an adjuvant in treating cutaneous lesions caused by Leishmania amazonensis. BALB/c mice were infected with L. amazonensis, and after the lesions appeared, they were treated in four different schedules using the drug treatment with meglumine antimoniate (Glucantime®), with or without ozonated oil. After thirty days of treatment, the lesions' thickness and their parasitic burden, blood leukocytes, production of NO and cytokines from peritoneal macrophages and lymph node cells were analyzed. The group treated with ozonated oil plus meglumine antimoniate showed the best performance, improving the lesion significantly. The parasitic burden showed that ozonated oil enhanced the leishmanicidal activity of the treatment, eliminating the parasites in the lesion. Besides, a decrease in the TNF levels from peritoneal macrophages and blood leukocytes demonstrated an immunomodulatory action of ozone in the ozonated oil-treated animals compared to the untreated group. Thus, ozonated sunflower oil therapy has been shown as an adjuvant in treating Leishmania lesions since this treatment enhanced the leishmanicidal and wound healing effects of meglumine antimoniate.


Asunto(s)
Antiprotozoarios , Leishmaniasis Cutánea , Ozono , Animales , Ratones , Antimoniato de Meglumina/farmacología , Antimoniato de Meglumina/uso terapéutico , Aceite de Girasol/uso terapéutico , Antiprotozoarios/farmacología , Meglumina/farmacología , Meglumina/uso terapéutico , Leishmaniasis Cutánea/tratamiento farmacológico , Leishmaniasis Cutánea/parasitología , Cicatrización de Heridas , Ozono/uso terapéutico , Ratones Endogámicos BALB C
8.
Front Endocrinol (Lausanne) ; 14: 1191040, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37484956

RESUMEN

Background: Multiple Endocrine Neoplasia type 1 is a rare genetic syndrome mainly caused by mutations of MEN1 gene and characterized by a combination of several endocrine and non-endocrine manifestations. The objective of this study was to describe cutaneous lesions and other non-endocrine manifestations of MEN1 in a cohort of patients with familial (F) and sporadic (S) MEN1, compare the prevalence of these manifestations between the two cohorts, and investigate the correlation with MEN1 mutation status. Methods: We collected phenotypic and genotypic data of 185 patients with F-MEN1 and S-MEN1 followed from 1997 to 2022. The associations between F-MEN1 and S-MEN1 or MEN1 mutation-positive and mutation-negative patients and non-endocrine manifestations were determined using chi-square or Fisher's exact tests or multivariate exact logistic regression analyses. Results: The prevalence of angiofibromas was significantly higher in F-MEN1 than in S-MEN1 in both the whole (p < 0.001) and index case (p = 0.003) cohorts. The prevalence of lipomas was also significantly higher in F-MEN1 than in S-MEN1 (p = 0.009) and in MEN1 mutation-positive than in MEN1 mutation-negative (p = 0.01) index cases. In the whole cohort, the prevalence of lipomas was significantly higher in MEN1 mutation-positive compared to MEN1 mutation-negative patients (OR = 2.7, p = 0.02) and in F-MEN1 than in S-MEN1 (p = 0.03), only after adjustment for age. No significant differences were observed for the other non-endocrine manifestations between the two cohorts. Hibernoma and collagenoma were each present in one patient (0.5%) and meningioma and neuroblastoma in 2.7% and 0.5%, respectively. Gastric leiomyoma was present in 1.1% of the patients and uterine leiomyoma in 14% of women. Thyroid cancer, breast cancer, lung cancer, basal cell carcinoma, melanoma, and colorectal cancer were present in 4.9%, 2.7%, 1.6%, 1.6%, 2.2%, and 0.5% of the whole series, respectively. Conclusions: We found a significantly higher prevalence of angiofibromas and lipomas in F-MEN1 compared with S-MEN1 and in MEN1 mutation-positive compared to MEN1 mutation-negative patients. In patients with one major endocrine manifestation of MEN1 , the presence of cutaneous lesions might suggest the diagnosis of MEN1 and a possible indication for genetic screening.


Asunto(s)
Angiofibroma , Lipoma , Neoplasia Endocrina Múltiple Tipo 1 , Humanos , Femenino , Neoplasia Endocrina Múltiple Tipo 1/genética , Angiofibroma/genética , Pruebas Genéticas , Mutación , Lipoma/patología
9.
Vet Sci ; 10(6)2023 May 26.
Artículo en Inglés | MEDLINE | ID: mdl-37368761

RESUMEN

Canine distemper is a contagious and severe systemic viral disease that affects domestic and wild carnivores worldwide. In this study, two adult female ferrets (Mustela putorius furo) were evaluated for cutaneous lesions. Scab, fur, and swab samples from the external auditory canal, cutaneous lesions, and scrapings were analyzed. Canine distemper virus (CDV)-positive samples underwent RT-PCR/RFLP with the restriction enzyme PsiI, and the hemagglutinin gene sequence was obtained. According to the restriction enzyme and sequence analyses, the viral strains were typed as CDV field strains that are included within the Europe lineage and distinct from those including vaccinal CDV strains. The sequence analysis showed the highest nucleotide identity rates in older Europe lineage CDV strains collected from dogs and a fox in Europe. This study is the first to report on CDV infection in ferrets in southern Italy and contributes to the current knowledge about natural CDV infection in this species. In conclusion, vaccination remains crucial for preventing the disease and counteracting cross-species infection. Molecular biology techniques can enable the monitoring of susceptible wild animals by ensuring the active surveillance of CDV spread.

10.
Pathogens ; 12(6)2023 Jun 10.
Artículo en Inglés | MEDLINE | ID: mdl-37375511

RESUMEN

Papular dermatitis is a cutaneous manifestation of canine Leishmania infantum infection associated with mild disease. Although it is a typical presentation, nowadays, there is still no established treatment. This study evaluated the safety and clinical efficacy of local meglumine antimoniate, locally administered polyhexamethylene biguanide (PHMB) alone or PHMB in combination with a Toll-like receptor 4 agonist (TLR4a) for the treatment of papular dermatitis due to L. infantum and assessed parasitological and immunological markers in this disease. Twenty-eight dogs with papular dermatitis were divided randomly into four different groups; three of them were considered treatment groups: PHMB (n = 5), PHMB + TLR4a (n = 4), and meglumine antimoniate (n = 10)), and the remaining were considered the placebo group (n = 9), which was further subdivided into two sub-groups: diluent (n = 5) and TLR4a (n = 4). Dogs were treated locally every 12 h for four weeks. Compared to placebo, local administration of PHMB (alone or with TLR4a) showed a higher tendency towards resolution of papular dermatitis due to L. infantum infection at day 15 (χ2 = 5.78; df = 2, p = 0.06) and day 30 (χ2 = 4.; df = 2, p = 0.12), while local meglumine antimoniate administration demonstrated the fastest clinical resolution after 15 (χ2 = 12.58; df = 2, p = 0.002) and 30 days post-treatment (χ2 = 9.47; df = 2, p = 0.009). Meglumine antimoniate showed a higher tendency towards resolution at day 30 when compared with PHMB (alone or with TLR4a) (χ2 = 4.74; df = 2, p = 0.09). In conclusion, the local administration of meglumine antimoniate appears to be safe and clinically efficient for the treatment of canine papular dermatitis due to L. infantum infection.

11.
Can J Urol ; 30(3): 11562-11567, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-37344469

RESUMEN

Monkeypox virus (MPV) is a rare zoonotic infection caused by an orthopoxvirus. The sudden outbreak of more than 3000 MPV infection from 50 countries has led the WHO to declare the infection as an "evolving threat of moderate public health concern". Here, we describe a case series of two cases of the MPV with a similar onset of cutaneous lesions in the genital area but with different progression in 35 and 41-year-old males respectively. Both of our patients were reported heterosexual with a 10-day prior history of unprotected sexual activity with a sex worker. Case 1 was uncomplicated having rashes over the chest, back, arms, and legs along with the occurrence of fluid-filled painless vesicles which was managed with topical antibiotic cream and wound care using povidone-iodine dressing along with oral amoxicillin/clavulanic acid. On the contrary, case 2 had a progressive necrotic lesion, which spread from the root of the penis involving the foreskin despite supportive measures eventually requiring circumferential surgical debridement of the foreskin. Hence, given the current outbreak, we must consider the possibility of genital MPV in patients with suggestive lesions, anywhere on the body (including the genitals), added to an epidemiological link or history of intimate contact with individuals that may be at high risk for transmission.


Asunto(s)
Combinación Amoxicilina-Clavulanato de Potasio , Antibacterianos , Mpox , Adulto , Humanos , Masculino , Combinación Amoxicilina-Clavulanato de Potasio/uso terapéutico , Antibacterianos/uso terapéutico , Genitales Masculinos/virología , Mpox/diagnóstico , Mpox/tratamiento farmacológico , Monkeypox virus , Resultado del Tratamiento
12.
Cureus ; 15(3): e36626, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37102030

RESUMEN

This case follows a 38-year-old Caucasian male with no known medical history who presented to the emergency department for syncope. He also endorsed a two-month history of fevers, weight loss, oral ulcers, rashes, joint swelling and arthralgias. After extensive workup, he was given a working diagnosis of granulomatosis with polyangiitis (GPA). Conflicting diagnostic evidence made it increasingly difficult to distinguish between GPA and eosinophilic granulomatosis with polyangiitis. In conclusion, we believe the patient may be better diagnosed with polyangiitis overlapping syndrome.

13.
Pharmaceutics ; 15(3)2023 Mar 08.
Artículo en Inglés | MEDLINE | ID: mdl-36986736

RESUMEN

Wounds are alterations in skin integrity resulting from any type of trauma. The healing process is complex, involving inflammation and reactive oxygen species formation. Therapeutic approaches for the wound healing process are diverse, associating dressings and topical pharmacological agents with antiseptics, anti-inflammatory, and antibacterial actions. Effective treatment must maintain occlusion and moisture in the wound site, suitable capacity for the absorption of exudates, gas exchange, and the release of bioactives, thus stimulating healing. However, conventional treatments have some limitations regarding the technological properties of formulations, such as sensory characteristics, ease of application, residence time, and low active penetration in the skin. Particularly, the available treatments may have low efficacy, unsatisfactory hemostatic performance, prolonged duration, and adverse effects. In this sense, there is significant growth in research focusing on improving the treatment of wounds. Thus, soft nanoparticles-based hydrogels emerge as promising alternatives to accelerate the healing process due to their improved rheological characteristics, increased occlusion and bioadhesiveness, greater skin permeation, controlled drug release, and a more pleasant sensory aspect in comparison to conventional forms. Soft nanoparticles are based on organic material from a natural or synthetic source and include liposomes, micelles, nanoemulsions, and polymeric nanoparticles. This scoping review describes and discusses the main advantages of soft nanoparticle-based hydrogels in the wound healing process. Herein, a state-of-the-art is presented by addressing general aspects of the healing process, current status and limitations of non-encapsulated drug-based hydrogels, and hydrogels formed by different polymers containing soft nanostructures for wound healing. Collectively, the presence of soft nanoparticles improved the performance of natural and synthetic bioactive compounds in hydrogels employed for wound healing, demonstrating the scientific advances obtained so far.

14.
Pathology ; 55(3): 302-314, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36774237

RESUMEN

Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystem syndrome caused by mutations in the neurofibromin 1 (NF1) gene that encodes for the protein neurofibromin acting as a tumour suppressor. Neurofibromin functions primarily as a GTPase-activating protein for the Ras family of oncogenes, which activates many signalling pathways for cell proliferation and differentiation; without neurofibromin, Ras is constitutively activated, thereby turning on many downstream signalling pathways related to oncogenesis. Patients with NF1 have a well known predisposition for certain types of malignancies including malignant peripheral nerve sheath tumours, gliomas, and breast cancers, as well as a potential association of NF1 with lymphoproliferative disorders such as lymphomas. In this article, we review the pathophysiology and tumourigenesis of NF1, previously reported cases of cutaneous lymphomas in NF1 patients along with our case demonstration of a NF1-associated scalp B-cell lymphoma, and NF1-associated extra cutaneous lymphomas. The diagnosis of lymphomas particularly cutaneous lymphomas may be difficult in NF1 patients as they often have skin lesions and/or cutaneous/subcutaneous nodules or tumours like neurofibromas, which raises the possibility of underdiagnosed cutaneous lymphomas in NF1 patients. We also comprehensively discuss the association between NF1 and lymphomas. In summary, most studies support a potential association between NF1 and lymphomas. Further investigation is needed to clarify the association between NF1 and lymphomas in order to bring clinical awareness of possibly underdiagnosed NF1-associated lymphomas and individualised management of NF1 patients to practice.


Asunto(s)
Linfoma , Neurofibromatosis 1 , Neoplasias Cutáneas , Humanos , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/patología , Neurofibromina 1/genética , Neurofibromina 1/metabolismo , Mutación , Transducción de Señal/genética , Neoplasias Cutáneas/complicaciones
16.
Med Leg J ; 91(1): 26-29, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35156441

RESUMEN

Child abuse is one of the medico-legal issues a physician may face during his/her clinical practice. It has devastating effects on both the child and family, especially psychological. If falsely identified as a child abuse case, it could result in detrimental consequences. Therefore, physicians must recognise and be able to rule out child abuse mimickers, which are often conditions that are mistakenly confused with true physical child abuse. Injuries like bruises and burns are common presentations and therefore it is important to consider cutaneous abuse mimics to avoid incorrect diagnosis of child abuse. This review article sheds light on the most common cutaneous conditions that can mimic physical child abuse, where patients present with patterns of various skin lesions that raise a suspicion of child abuse.


Asunto(s)
Quemaduras , Maltrato a los Niños , Médicos , Humanos , Niño , Femenino , Masculino , Diagnóstico Diferencial , Maltrato a los Niños/diagnóstico , Piel/lesiones , Quemaduras/diagnóstico
17.
Mycopathologia ; 188(1-2): 63-70, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36273348

RESUMEN

Chromoblastomycosis (CBM) is a chronic, progressive fungal disease of the skin and subcutaneous tissue caused by a group of dematiaceous fungi. Verrucous lesions present parasite-rich granulomas and predominance of a Th2 patterns of cytokines. The inflammasome constitutes a macromolecular protein complex that play a role in the activation of caspase 1 that cleaves pro-IL1ß and pro-IL18, essential mediators of inflammation, and also activates pyroptosis. We intended to explore the presence and a possible role of inflammasome elements in cutaneous human lesions in CBM, considering the expression of IL1ß, IL18, caspase 1, NLRP1, and also RIPK3, a key downstream component of necroptosis signaling. 35 skin biopsies of cutaneous lesions of verrucous form of CBM and 10 biopsies from normal skin were selected. The diagnosis was based on histological and clinical analysis. An immunohistochemical protocol was performed. The histopathological analysis evidenced epidermis with hyperkeratosis, irregular acanthosis, and micro abscesses. The dermis presented suppurative granulomas and inflammatory infiltrate composed by giant cells, macrophages, epithelioid cells, lymphocytes, and some eosinophils. Positive cells were distributed in the inflammatory infiltrate, with an increased number of cells expressing caspase 1, IL1ß and IL18. Cells expressing RIPK3 and NLRP1 were less frequent. The intense presence of caspase 1, IL1ß and IL18, allied to NLRP1 expression, suggest that inflammasome and pyroptosis could play a role in the immune response against fungal agents of CBM. Our results, allied to data from literature, could suggest that inflammasome-mediated response and pyroptosis could be a target to be explored to decrease CBM lesions.


Asunto(s)
Cromoblastomicosis , Inflamasomas , Humanos , Inflamasomas/metabolismo , Cromoblastomicosis/patología , Caspasa 1/metabolismo , Interleucina-18/metabolismo , Apoptosis
18.
Cureus ; 15(12): e50701, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38234945

RESUMEN

Interferon-stimulated gene 15 (ISG15) is a pivotal protein involved in antiviral defense and immune regulation. This study presents a remarkable case series of a consanguineous family with a homozygous variant in the ISG15 gene, leading to a complex interplay of intriguing dermatological manifestations and concurrent zinc deficiency. The range of cutaneous phenotypes observed in the family members, from severe ulcerative lesions to atopic dermatitis, highlights the intricate relationship between the identified genetic variant and dermatological conditions. Furthermore, zinc deficiency adds another layer of complexity to the understanding of these conditions. Comprehensive assessments of zinc levels were conducted for three siblings, while the fourth sibling's evaluation was impeded. This extraordinary case series offers a unique opportunity for scientific exploration, shedding light on complex genetic disorders and potentially paving the way for novel diagnostic and therapeutic strategies in medical science. The convergence of familial genetics, the homozygous ISG15 variant, and the captivating spectrum of cutaneous manifestations hold promise for advancing our understanding of these conditions and their underlying mechanisms.

19.
Cureus ; 15(12): e50780, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38239536

RESUMEN

Amyopathic dermatomyositis is a rare form of dermatomyositis characterized by cutaneous lesions without clinical, biological, or histological muscular involvement. Pulmonary complications associated with this condition are diffuse interstitial lung disease (ILD), pneumomediastinum, and spontaneous pneumothorax. The form associated with anti-melanoma differentiation-associated protein 5 (anti-MDA-5) antibodies is reputed to have a poor prognosis and is responsible for ILD which can rapidly progress to fatal respiratory failure. Treatment of amyopathic dermatomyositis is essentially based on corticosteroid therapy and immunosuppressants. We present the case of a 42-year-old patient followed for three months for diffuse ILD. The patient was hospitalized for respiratory distress secondary to an aggravation of ILD with pneumomediastinum and pneumothorax. The patient also presented with cutaneous lesions identified as Gottron's papules. The patient was diagnosed with amyopathic dermatomyositis positive for anti-MDA-5 antibodies.

20.
Cureus ; 14(6): e26311, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35911290

RESUMEN

A 47-year-old female presented with complaints of abdominal pain and a history of new-onset maculopapular rash. A workup including laboratory and imaging studies, colonoscopy, and biopsy was performed that led to the diagnosis of adult-onset IgA vasculitis. The patient responded well to intravenous methylprednisolone and was followed up as an outpatient where she continued with oral methylprednisolone and azathioprine. This case is noteworthy for the unusual adult-onset presentation with primarily gastrointestinal symptoms and atypical rash pattern. Furthermore, while very effective in this patient, the use of corticosteroids is a treatment decision that has some controversy in the current literature.

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