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1.
Skin Appendage Disord ; 8(3): 179-185, 2022 May.
Article in English | MEDLINE | ID: mdl-35707284

ABSTRACT

Introduction: Hematohidrosis and hemolacria are 2 conditions surrounded in religiousness, mysticism, and supernatural superstitions. While the mechanism is still unclear, these cases have amazed physicians for centuries. Methods: We performed a systematic review in PubMed from 2000 to mid-2021 accounting for 75 studies from which we included 60 cases in 53 articles which were described. Results: The median age of apparition was 24 years with the youngest case being 12 and the oldest 81. Some of the diseases were secondary to other causes such as hemangiomas and other neoplasias or epistaxis episodes. Most of the cases have been reported in India and the USA; most of them correspond to hemolacria alone (51.6%). Discussion: We have stated the basics of the substances involved in the coagulation process that have been described as genetically altered in some patients such as mucins, metalloproteinases, and fibrinogen, as well as propose a mechanism that can explain the signs of this particular entity and approach to its treatment as well as provide the first trichoscopy image of a patient with hemolacria.

2.
Exp Dermatol ; 31(9): 1431-1442, 2022 09.
Article in English | MEDLINE | ID: mdl-35620886

ABSTRACT

Recessive dystrophic epidermolysis bullosa (RDEB) patients develop poorly healing skin wounds that are frequently colonized with microbiota. Because T cells play an important role in clearing such pathogens, we aimed to define the status of adaptive T cell-mediated immunity in RDEB wounds. Using a non-invasive approach for sampling of wound-associated constituents, we evaluated microbial contaminants in cellular fraction and exudates obtained from RDED wounds. Infectivity and intracellular trafficking of inactivated Staphylococcus aureus was accessed in RDEB keratinocytes. S. aureus and microbial antigen-specific activation of RDEB wound-derived T cells were investigated by fluorescence-activated cell sorting-based immune-phenotyping and T-cell functional assays. We found that RDEB wounds and epithelial cells are most frequently infected with Staphylococcus sp. and Pseudomonas sp. and that S. aureus essentially infects more RDEB keratinocytes and RDEB-derived squamous cell carcinoma cells than keratinocytes from healthy donors. The RDEB wound-associated T cells contain populations of CD4+ and CD8+ peripheral memory T cells that respond to soluble microbial antigens by proliferating and secreting interferon gamma (IFNγ). Moreover, CD8+ cytotoxic T lymphocytes recognize S. aureus-infected RDEB keratinocytes and respond by producing interleukin-2 (IL-2) and IFNγ and degranulating and cytotoxically killing infected cells. Prolonged exposure of RDEB-derived T cells to microbial antigens in vitro does not trigger PD-1-mediated T-cell exhaustion but induces differentiation of the CD4high population into CD4high CD25+ FoxP3+ regulatory T cells. Our data demonstrated that adaptive T cell-mediated immunity could clear infected cells from wound sites, but these effects might be inhibited by PD-1/Treg-mediated immuno-suppression in RDEB.


Subject(s)
Bacterial Infections , Epidermolysis Bullosa Dystrophica , T-Lymphocytes , Antigens , Collagen Type VII , Epidermolysis Bullosa Dystrophica/pathology , Humans , Keratinocytes/pathology , Lymphocyte Activation , Programmed Cell Death 1 Receptor , Staphylococcus aureus , T-Lymphocytes/immunology
3.
J Dermatol Sci ; 100(3): 209-216, 2020 Dec.
Article in English | MEDLINE | ID: mdl-33143962

ABSTRACT

BACKGROUND: Poorly healing wounds are one of the major complications in patients suffering from recessive dystrophic epidermolysis bullosa (RDEB). At present, there are no effective means to analyze changes in cellular and molecular networks occurring during RDEB wound progression to predict wound outcome and design betted wound management approaches. OBJECTIVES: To better define mechanisms influencing RDEB wound progression by evaluating changes in molecular and cellular networks. METHODS: We developed a non-invasive approach for sampling and analysis of wound-associated constituents using wound-covering bandages. Cellular and molecular components from seventy-six samples collected from early, established and chronic RDEB wounds were evaluated by FACS-based immuno-phenotyping and ELISA. RESULTS: Our cross-sectional analysis determined that progression of RDEB wounds to chronic state is associated with the accumulation (up to 90 %) of CD16+CD66b+ mature neutrophils, loss of CD11b+CD68+ macrophages, and a significant increase (up to 50 %) in a number of CD11c+CD80+CD86+ activated professional antigen presenting cells (APC). It was also marked by changes in activated T cells populations including a reduction of CD45RO+ peripheral memory T cells from 80 % to 30 % and an increase (up to 70 %) in CD45RA+ effector T cells. Significantly higher levels of MMP9, VEGF-A and cathepsin G were also associated with advancing of wounds to poorly healing state. CONCLUSIONS: Our data demonstrated that wound-covering bandages are useful for a non-invasive sampling and analysis of wound-associated constituents and that transition to poorly healing wounds in RDEB patients as associated with distinct changes in leukocytic infiltrates, matrix-remodeling enzymes and pro-angiogenic factors at wound sites.


Subject(s)
Epidermolysis Bullosa Dystrophica/complications , Leukocytes/immunology , Skin/pathology , Wound Healing/immunology , Adolescent , Adult , Aged , Child , Child, Preschool , Cross-Sectional Studies , Epidermolysis Bullosa Dystrophica/immunology , Epidermolysis Bullosa Dystrophica/pathology , Female , Humans , Infant , Leukocytes/metabolism , Male , Middle Aged , Receptors, CCR2/metabolism , Receptors, Interleukin-8B/metabolism , Skin/cytology , Skin/immunology , Young Adult
5.
Skinmed ; 16(1): 77-79, 2018.
Article in English | MEDLINE | ID: mdl-29551123

ABSTRACT

A 75-year-old African-American man presented with a 3-year history of painless, fluid-filled blisters, for which his primary care physician had treated him with doxycycline, cephalexin, and topical corticosteroids, with no significant improvement. The blisters had ruptured spontaneously and healed with scarring. He denied antecedent trauma. His medical history was remarkable for insulin-dependent type 2 diabetes mellitus, hypertension, hypercholesterolemia, primary cutaneous melanoma status-post excision, and breast cancer status-post mastectomy and chemotherapy. Physical examination revealed nontender bullae, measuring up to 4 cm × 3 cm and containing serous fluid, on the anterior portion of both tibias (Figure 1). The Nikolsky sign was negative. There was no evidence of surrounding inflammation. A biopsy revealed subepidermal bullae formation with sparse inflammatory infiltrate (Figure 2). Direct and indirect immunofluorescence studies were negative for immunoglobulin (Ig) G, IgA, IgM, complement C3, C5b-9, and fibrinogen deposition. Culture of the bullous fluid was negative.


Subject(s)
Diabetes Mellitus, Type 1/complications , Diabetic Foot/diagnosis , Skin Diseases, Vesiculobullous/diagnosis , Aged , Blister/diagnosis , Diabetic Foot/etiology , Humans , Male , Rupture, Spontaneous , Skin Diseases, Vesiculobullous/etiology
7.
Psychiatry Investig ; 14(6): 746-753, 2017 Nov.
Article in English | MEDLINE | ID: mdl-29209377

ABSTRACT

OBJECTIVE: We investigate the presence and the quality of pain in patients with dystrophic epidermolysis bullosa (DEB), and its correlation with the level of anxiety and depression. METHODS: We collected data from 27 DEB patients and 26 healthy individuals. DEB patients and controls completed 1 scale for the quality of pain, and 1 scale for anxiety and depression. Pain was assessed with the short form of the McGill Pain Questionnaire, whereas anxiety and depression were assessed with the Hamilton rating scale for anxiety and depression. RESULTS: DEB patients and healthy control individuals were homogeneous for age and gender (p>0.05). A statistically significant difference in the two groups was seen for sensory pain rating scale (p<0.001), affective pain rating scale (p=0.029), total pain rating scale (p<0.001), visual analogue scale (p=0.012) and present pain intensity (p=0.001), but not for anxiety (p=0.169) and depression (p=0.530). The characteristics of pain that showed a significant difference between DEB patients and healthy controls were shooting, splitting, tender and throbbing (p<0.05). In DEB patients pain was not correlated with anxiety or depression (p>0.05), whereas a slight correlation between pain and anxiety was found in healthy controls (p<0.05). No difference was found between quality of pain and anxiety-depression in DEB patients (p>0.05), but was between the DEB dominant and the recessive form of DEB (p=0.025). CONCLUSION: The perception of pain in DEB patients appears greater than in healthy individuals, with splitting and tender characteristics being the most significant ones, but was not associated with anxious and/or depressive symptoms.

9.
J Invest Dermatol ; 137(11): 2298-2308, 2017 11.
Article in English | MEDLINE | ID: mdl-28736230

ABSTRACT

Hereditary epidermolysis bullosa (EB) is associated with skin blistering and the development of chronic nonhealing wounds. Although clinical studies have shown that cell-based therapies improve wound healing, the recruitment of therapeutic cells to blistering skin and to more advanced skin lesions remains a challenge. Here, we analyzed cytokines and chemokines in blister fluids of patients affected by dystrophic, junctional, and simplex EB. Our analysis revealed high levels of CXCR1, CXCR2, CCR2, and CCR4 ligands, particularly dominant in dystrophic and junctional EB. In vitro migration assays demonstrated the preferential recruitment of CCR4+ lymphocytes and CXCR1+, CXCR2+, and CCR2+ myeloid cells toward EB-derived blister fluids. Immunophenotyping of skin-infiltrating leukocytes confirmed substantial infiltration of EB-affected skin with resting (CD45RA+) and activated (CD45RO+) T cells and CXCR2+ CD11b+ cells, many of which were identified as CD16b+ neutrophils. Our studies also showed that abundance of CXCR2 ligand in blister fluids also creates a favorable milieu for the recruitment of the CXCR2+ stem cells, as validated by in vitro and in-matrix migration assays. Collectively, this study identified several chemotactic pathways that control the recruitment of leukocytes to the EB-associated skin lesions. These chemotactic axes could be explored for the refinement of the cutaneous homing of the therapeutic stem cells.


Subject(s)
Chemokines/genetics , Cytokines/genetics , Epidermolysis Bullosa/genetics , Epidermolysis Bullosa/pathology , Receptors, CXCR/genetics , Blister/pathology , Cell Movement/genetics , Cells, Cultured , Disease Progression , Female , Gene Expression Regulation , Humans , Leukocytes/metabolism , Leukocytes/pathology , Male , Molecular Biology , Prognosis , Sampling Studies , Sensitivity and Specificity , Stem Cells/metabolism , Stem Cells/pathology
10.
Arch Rheumatol ; 32(4): 284-289, 2017 Dec.
Article in English | MEDLINE | ID: mdl-29900998

ABSTRACT

OBJECTIVES: This study aims to describe salivary beta-2 microglobulin (sB2M) levels in our setting and to assess the performance of sB2M for the diagnosis of Sjögren's syndrome (SS). PATIENTS AND METHODS: This cross-sectional, comparative study included 192 SS patients (2 males, 190 females; mean age 53.1 years; range 23 to 84 years) and 64 healthy controls (1 male, 63 females; mean age 46.9 years; range 21 to 82 years). Patients were divided into three groups as those with primary SS, secondary SS, and sicca non-Sjögren's syndrome (snSS). sB2M was measured by enzyme-linked immunosorbent assay in whole unstimulated saliva (ng/mL). Differences in sB2M were evaluated using the Kruskal-Wallis test. Receiver operating curves were generated to determine the performance of sB2M for distinguishing between SS and non-autoimmune snSS groups, and between SS group and healthy controls. RESULTS: The primary SS and secondary SS groups had a significantly higher concentration of sB2M than the other two groups. There was no significant difference in the concentration of sB2M between primary SS and secondary SS groups, and neither between snSS group and healthy controls. The receiver operating curve analysis for distinguishing SS and snSS showed an area under the curve of 0.661 (95% confidence interval 0.590-0.728, p=0.0001) with an optimal cutoff value of 0.582 ng/mL. Sensitivity, specificity, positive predictive value, and negative predictive value were 68.7%, 59.3%, 20.2%, and 92.7%, respectively. The reported prevalence of SS in Mexico was considered when calculating the last two values. CONCLUSION: In our setting, sB2M effectively distinguished between SS patients and non-autoimmune sicca symptoms. Including sB2M in our conventional diagnostic arsenal may assist in the evaluation of patients in whom SS is suspected; however, further studies are needed to clarify this hypothesis.

11.
Gac Med Mex ; 152(3): 371-80, 2016.
Article in Spanish | MEDLINE | ID: mdl-27335194

ABSTRACT

Sjögren's syndrome is a chronic autoimmune disease whose main clinical manifestation is oral dryness (xerostomia) and ocular dryness (xerophthalmia). It is characterized by progressive mononuclear infiltration of the exocrine glands and can affect a variety of organ systems. The prevalence of primary Sjögren's syndrome varies from 0.01 up to 4.8%; this variability reflects differences in definition, application of diagnostic criteria, and geographic differences in age groups. The etiology of primary Sjögren's syndrome is unknown, but the interaction between genetic and environmental factors (viruses, hormones, vitamins, stress) is important. There are few reported cases of concordance in monozygotic twins, and it is common for patients with primary Sjögren's syndrome to have relatives with other autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis, thyroid disease, psoriasis, and multiple sclerosis. Among the most common findings is hypergammaglobulinemia. Elevated levels of γ-globulins contain autoantibodies directed against nonspecific antigens such as rheumatoid factor, antinuclear antibodies, and cellular antigens SS-A/Ro and SS-B/La. Regarding diagnosis, there have been 11 different published criteria for Sjögren's syndrome since 1965; none have been approved by the American College of Rheumatology or the European League Against Rheumatism. The current criteria were published in 2012 jointly with the progressive advance in the knowledge of the human salivary proteome that has gained wide acceptance in Sjögren's syndrome, with the possibility of using saliva as a useful tool in both diagnosis and prognosis in this field because the analysis of salivary proteins may reflect the state of locally underlying disease of the salivary glands, which are the target organs in this disease.


Subject(s)
Autoimmune Diseases/diagnosis , Saliva/metabolism , Sjogren's Syndrome/diagnosis , Antibodies, Antinuclear/immunology , Autoantibodies/immunology , Autoimmune Diseases/epidemiology , Autoimmune Diseases/physiopathology , Humans , Prevalence , Prognosis , Sjogren's Syndrome/epidemiology , Sjogren's Syndrome/physiopathology
12.
Case Rep Oncol ; 9(1): 241-5, 2016.
Article in English | MEDLINE | ID: mdl-27194985

ABSTRACT

BACKGROUND: B-Raf is a serine/threonine protein kinase activating the MAP kinase/ERK-signaling pathway. It has been shown that 50% of melanomas harbor activating BRAF mutations, with over 90% being the V600E mutation. OBJECTIVE: The goal of this research was to determine the prevalence of the BRAF V600E mutation in patients from Central Mexico diagnosed with primary melanoma. METHODS: Skin biopsies from 47 patients with melanoma were obtained from the dermatology department of the Hospital General 'Dr. Manuel Gea González' in Mexico City. For BRAF mutation determination, after DNA isolation, the gene region where the mutation occurs was amplified by PCR. Subsequently, the presence or absence of the V600E mutation was detected by Sanger sequencing performed at the private molecular diagnostic laboratory Vitagénesis in Monterrey, Mexico. RESULTS: Of the 47 patients sampled, 6.4% harbored the V600E mutation. No statistical significance was found between mutations and the type of tumor.

13.
J Dermatol ; 43(1): 70-8, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26183725

ABSTRACT

The psychological aspect in patients with dystrophic epidermolysis bullosa (DEB) is poorly documented. We sought to determine the role of DEB in anxiety, depression and self-esteem. We conducted a cross-sectional study, collecting data from 27 DEB patients and 26 healthy individuals. DEB patients and healthy controls completed three different psychometric scales for anxiety and depression and one scale for self-esteem. DEB patients and healthy controls were homogeneous for age and sex (P > 0.05), but not for employment, marital status and economic level (P < 0.05). Median values of all psychometric battery scales were not statistically significant between DEB patients and healthy controls, except for Goldberg scale for anxiety (P = 0.003) and depression (P = 0.037) and slightly significant for Zung Scale for anxiety (P = 0.048) with no difference between DEB patients with dominant versus recessive form in all scales (P > 0.05). Among DEB patients, only employment showed a significant difference in all scales (P < 0.05) but Hamilton for depression, whereas self-esteem seemed to be affected by marriage (P = 0.04) and education (P = 0.016). DEB patients apparently are not more anxious and/or depressed and do not have less self-esteem than healthy individuals.


Subject(s)
Anxiety/etiology , Depression/etiology , Epidermolysis Bullosa Dystrophica/psychology , Self Concept , Adolescent , Adult , Case-Control Studies , Cross-Sectional Studies , Epidermolysis Bullosa Dystrophica/complications , Female , Humans , Male , Middle Aged , Psychometrics , Young Adult
14.
An Bras Dermatol ; 90(5): 610-9, 2015.
Article in English | MEDLINE | ID: mdl-26560205

ABSTRACT

Coccidioidomycosis is a highly prevalent disease in the Western hemisphere. It is considered one of the most virulent primary fungal infections. Coccidioides species live in arid and semi-arid regions, causing mainly pulmonary infection through inhalation of arthroconidia although many other organs can be affected. Primary inoculation is rare. Since the first case of coccidioidomycosis was reported in 1892, the skin has been identified as an important target of this disease. Knowledge of cutaneous clinical forms of this infection is important and very useful for establishing prompt diagnosis and treatment. The purpose of this article is to provide a review of this infection, emphasizing its cutaneous manifestations, diagnostic methods and current treatment.


Subject(s)
Coccidioidomycosis/pathology , Dermatomycoses/pathology , Coccidioidomycosis/classification , Coccidioidomycosis/therapy , Dermatomycoses/therapy , Female , Humans , Lung Diseases, Fungal/pathology , Lung Diseases, Fungal/therapy , Male , Risk Factors , Skin/pathology
15.
An. bras. dermatol ; 90(5): 610-619, graf
Article in English | LILACS | ID: lil-764414

ABSTRACT

AbstractCoccidioidomycosis is a highly prevalent disease in the Western hemisphere. It is considered one of the most virulent primary fungal infections. Coccidioides species live in arid and semi-arid regions, causing mainly pulmonary infection through inhalation of arthroconidia although many other organs can be affected. Primary inoculation is rare. Since the first case of coccidioidomycosis was reported in 1892, the skin has been identified as an important target of this disease. Knowledge of cutaneous clinical forms of this infection is important and very useful for establishing prompt diagnosis and treatment. The purpose of this article is to provide a review of this infection, emphasizing its cutaneous manifestations, diagnostic methods and current treatment.


Subject(s)
Female , Humans , Male , Coccidioidomycosis/pathology , Dermatomycoses/pathology , Coccidioidomycosis/classification , Coccidioidomycosis/therapy , Dermatomycoses/therapy , Lung Diseases, Fungal/pathology , Lung Diseases, Fungal/therapy , Risk Factors , Skin/pathology
16.
Indian J Dermatol ; 60(2): 215, 2015.
Article in English | MEDLINE | ID: mdl-25814746

ABSTRACT

Scleromyxedema is characterized by indurated erythematous papules disseminated on the face, chest and limbs. About twenty cases treated with thalidomide, stem cells, melphalan and immunoglobulin with varying results have been described. We present the case of a 28-year-old male patient diagnosed with scleromyxedema not associated with monoclonal gammopathy, multi-treated with anti-leprosy drugs, UVA1, and thalidomide for 4 years with no improvement.

17.
Acta Odontol Scand ; 73(2): 156-60, 2015 Feb.
Article in English | MEDLINE | ID: mdl-25598172

ABSTRACT

OBJECTIVE: To evaluate the internal consistency of the epidermolysis bullosa oropharyngeal severity score (EBOS). MATERIALS AND METHODS: Data from 92 patients of varying EB types/sub-types already described in a previous multi-center study were re-analyzed via the coefficient Cronbach's α (CR-α). Additionally, the corrected item total correlation between each item and the items' overall score with Pearson's product-moment correlation (ρ) was calculated. RESULTS: The alpha coefficient for the mean total score of 17 items is 0.941. The inter-observer reliability for disease severity score was excellent for oral medicine specialist (α = 0.924) and dermatologist (α = 0.916) and the intra-observer reliability was good at Time 1 (α = 0.895) and Time 2 (α = 0.897). The analysis of CR-α per single item revealed that alpha was greater than 0.904 for disease activity and 0.743 for structural damage, after the elimination of four items for oral medicine specialist and greater than 0.898 for disease activity and 0.769 for structural damage after the elimination of five items for dermatologist. Similarly the analysis of the corrected items-EBOS correlation showed that the same items do not correlate very well (ρ < 0.4) with the overall EBOS. CONCLUSIONS: The EBOS turned out to have a strong and reliable internal consistency, as the majority of the EBOS' items were consistent with each other.


Subject(s)
Epidermolysis Bullosa/classification , Oropharynx/pathology , Pharyngeal Diseases/classification , Severity of Illness Index , Dental Enamel Hypoplasia/classification , Dermatology , Humans , Mouth Floor/pathology , Observer Variation , Oral Medicine , Reproducibility of Results
18.
Case Rep Dermatol ; 6(2): 129-33, 2014 May.
Article in English | MEDLINE | ID: mdl-24926254

ABSTRACT

A 2-month-old female infant was referred to DebRA Mexico from the Regional Children's Hospital because of a generalized dermatosis from birth characterized by multiple blisters and erosions on the trunk, face and limbs, associated with minor trauma. A skin biopsy showing subepidermal blisters associated with a dermal infiltrate of Giemsa-positive cells and CD117-positive antibody was consistent with the diagnosis of bullous mastocytosis. Treatment with oral antihistamines, topical steroids, and antibiotics was initiated, leading to a remission of the lesions.

19.
Gac Med Mex ; 150(2): 175-6, 2014.
Article in Spanish | MEDLINE | ID: mdl-24603999

ABSTRACT

Coccidioidomycosis is a systemic granulomatosis caused by dimorphic fungi Coccidioides immitis, which are endemic of the San Joaquin Valley in California, USA, and C. posadasii found in the southwestern desert of the USA, Mexico, and South America. The primary cutaneous form is extremely infrequent. There have been 25 reported cases in literature, all of them in adults. This is the first case in an infant.


Subject(s)
Coccidioidomycosis/diagnosis , Dermatomycoses/microbiology , Facial Dermatoses/microbiology , Facial Dermatoses/diagnosis , Humans , Infant , Male
20.
Gac Med Mex ; 150(1): 84-95, 2014.
Article in Spanish | MEDLINE | ID: mdl-24481435

ABSTRACT

Lyme disease is an emerging infection caused by the spirochete Borrelia burgdorferi. It is the most common vector-borne disease in the USA and Europe, and it is transmitted to humans through the bite of ticks of the genus Ixodes. Its animal reservoirs are the white-tailed deer, the white-footed mouse, and other small mammals. It is considered the new "great imitator", with its diagnosis being a major challenge. Traditionally it is divided into four stages, early localized disease, early disseminated, late disease, and the post-Lyme syndrome. Clinical manifestations may be both cutaneous and systemic, and can have cardiovascular, neurological, and musculoskeletal involvement. Diagnosis is based on clinical findings and can be confirmed by serologic studies (ELISA and Western Blot). The best preventive method is to avoid exposure to vectors. The aim of treatment with antibiotics (doxycycline and cephalosporins) is to relieve symptoms and prevent sequelae.


Subject(s)
Lyme Disease , Disease Progression , Humans , Lyme Disease/diagnosis , Lyme Disease/microbiology , Lyme Disease/therapy , Lyme Disease/transmission
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