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European Journal of Dermatology : EJD Apr 2024
Topics: Humans; Hepatitis B Vaccines; Infant; Granuloma; Acrodermatitis; Male
PubMed: 38907565
DOI: 10.1684/ejd.2024.4658 -
Frontiers in Medicine 2024Acrodermatitis enteropathica (AE, OMIM 201100) is a rare autosomal recessive dermatosis characterized by periorificial dermatitis, diarrhea, alopecia, and hypozincaemia...
Acrodermatitis enteropathica (AE, OMIM 201100) is a rare autosomal recessive dermatosis characterized by periorificial dermatitis, diarrhea, alopecia, and hypozincaemia due to pathogenic variants of . Herein, we present a case series describing four unrelated patients with AE from Han, Yi, and Tibetan ethnicities in Sichuan region of southwestern China, speculate the hotspot variants of causing AE in Sichuan region and highlight physicians should be alerted to unusual presentations of AE, such as the absence of hypozincaemia and the presence of acne-like lesions. Serum alkaline phosphatase and genetic testing should be considered to accurately evaluate the zinc deficiency in human body and help make the correct diagnosis.
PubMed: 38831989
DOI: 10.3389/fmed.2024.1399511 -
BMC Pediatrics May 2024Transient symptomatic zinc deficiency (TSZD), an acquired type of zinc deficiency, is a rare, but probably underrecognized disease, extremely in breastfed premature with...
Analysis of similarities and differences between transient symptomatic zinc deficiency and acrodermatitis enteropathica in children: a case report of a Chinese Yi-ethnic infant.
BACKGROUND
Transient symptomatic zinc deficiency (TSZD), an acquired type of zinc deficiency, is a rare, but probably underrecognized disease, extremely in breastfed premature with low birthweight infants. Its clinical manefestations are similar to Acrodermatitis enteropathica (AE), which is a genetic zinc absorption disorder caused by SLC39A4 gene mutations. This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. TSZD is often misdiagnosed as AE because of their extremely similar manefestations, characterized by a typical rash. Therefore, the differention between them is still a clinical challenging.
CASE PRESENTATION
Here, we present a case of TSZD in a 4 month and 23 days female Chinese Yi-ethnic premature with AE-like skin lesions, mainly presenting periorificial, perianal and perineal crusted, eroded, erythemato-squamous eruption. Laboratory examination showed the patient's blood zinc level was significantly decreased. Further sequencing of the SLC39A4 gene showed no mutation in the infant and her parents. Skin lesions significantly improved after 6 days of initial zinc supplementation (3 mg/kg/d), and maintenance treatment with 1 mg/kg/day of zinc was discontinued after 8 months without recurrence.
CONCLUSIONS
The clinical manifestations of TSZD and AE are extremely similar, leading to a high rate of clinical misdiagnosis. While genetic analysis of the SLC39A4 gene is a reliable method for differentiating TSZD from AE. It is recommended that SLC39A4 gene test should be performed as far as possible in children with AE-like rash.
Topics: Humans; Zinc; Acrodermatitis; Female; Infant; Diagnosis, Differential; China; Cation Transport Proteins; Infant, Premature; Infant, Newborn; Infant, Premature, Diseases; East Asian People
PubMed: 38755601
DOI: 10.1186/s12887-024-04830-y -
Molecular Biology Reports Apr 2024Cystic fibrosis (CF) is a rare and debilitating autosomal recessive disorder. It hampers the normal function of various organs and causes severe damage to the lungs, and...
BACKGROUND
Cystic fibrosis (CF) is a rare and debilitating autosomal recessive disorder. It hampers the normal function of various organs and causes severe damage to the lungs, and digestive system leading to recurring pneumonia. Cf also affects reproductive health eventually may cause infertility. The disease manifests due to genetic aberrations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This study aimed to screen for CFTR gene variants in Pakistani CF patients representing variable phenotypes.
METHODS
Clinical exome and Sanger sequencing were performed after clinical characterization of 25 suspected cases of CF (CF1-CF25). ACMG guidelines were followed to interpret the clinical significance of the identified variants.
RESULTS
Clinical investigations revealed common phenotypes such as pancreatic insufficiency, chest infections, chronic liver and lung diseases. Some patients also displayed symptoms like gastroesophageal reflux disease (GERD), neonatal cholestasis, acrodermatitis, diabetes mellitus, and abnormal malabsorptive stools. Genetic analysis of the 25 CF patients identified deleterious variants in the CFTR gene. Notably, 12% of patients showed compound heterozygous variants, while 88% had homozygous variants. The most prevalent variant was p. (Met1Thr or Met1?) at 24%, previously not reported in the Pakistani population. The second most common variant was p. (Phe508del) at 16%. Other variants, including p. (Leu218*), p. (Tyr569Asp), p. (Glu585Ter), and p. (Arg1162*) were also identified in the present study. Genetic analysis of one of the present patients showed a pathogenic variant in G6PD in addition to CFTR.
CONCLUSION
The study reports novel and reported variants in the CFTR gene in CF patients in Pakistani population having distinct phenotypes. It also emphasizes screening suspected Pakistani CF patients for the p. (Met1Thr) variant because of its increased observance and prevalence in the study. Moreover, the findings also signify searching for additional pathogenic variants in the genome of CF patients, which may modify the phenotypes. The findings contribute valuable information for the diagnosis, genetic counseling, and potential therapeutic strategies for CF patients in Pakistan.
Topics: Child; Child, Preschool; Female; Humans; Infant; Male; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Exome Sequencing; Gastrointestinal Diseases; Liver Diseases; Mutation; Pakistan; Phenotype
PubMed: 38662334
DOI: 10.1007/s11033-024-09508-3 -
Gastroenterology Apr 2024
PubMed: 38657779
DOI: 10.1053/j.gastro.2024.04.017 -
Acta Dermatovenerologica Croatica : ADC Dec 2023Dear Editor, Ticks carry many diseases, bacteria, and viruses and represent a very important healthcare issue both in Croatia and globally. Although most ticks are not...
Dear Editor, Ticks carry many diseases, bacteria, and viruses and represent a very important healthcare issue both in Croatia and globally. Although most ticks are not infected with pathogens dangerous to humans, some ticks can transmit infectious diseases with significant morbidity and mortality. This is caused by the increasing incidence of many tick-borne diseases over a growing geographical area. Many factors influence which species of ticks are present in a given geographical area, as well as the density of their population and the risk of human exposure to infected ticks. The average morbidity from Lyme borreliosis in the Republic of Croatia is 6.51 infected per 100,000 inhabitants. There can be no Lyme borreliosis without ticks infected by Borrelia burgdorferi (1,2). In Europe, Lyme borreliosis (LB) is caused by the Borrelia burgdorferi sensu lato complex genotype. There are three skin manifestations of LB: erythema migrans (EM), borrelial lymphocytoma (BL), and acrodermatitis chronica atrophicans (ACA) (3,4). Herein we describe a female patient with a diagnosis of Lyme disease based on the non-specific clinical picture and laboratory diagnostics, in whom successful treatment led to complete regression of all skin manifestations. The patient was a 58-year-old woman with no previous history of severe illness. Notably, the patient history showed that, eight months prior to presenting for the dermatological exam, the patient had observed the appearance of edema and demarcated macular exanthema around both ankles and subsequently on the dorsum of the right hand, which spread to the left hand and with gradual spread to both lower legs and the lower extremities, with more pronounced changes on the left leg. The initial dermatological examination found pronounced skin changes on both legs, especially the left leg, with erythematous changes in the form of figurate erythema forming confluences up to the size of a smaller palm; the skin of the left leg was partially mottled with normal turgor and elasticity (Figure 1a and Figure 1b). Inguinal lymph nodes were enlarged and painless on palpation. Changes were minimal and discrete on the right leg and were absent on the torso, upper extremities, and skin. Subjectively, there was no itching, burning, or tingling sensation in the affected areas of the skin. The patient subjectively reported feeling well. Family history showed that the patient's father had died from prostate cancer and that the mother had died from melanoma. Laboratory findings were as follows: hematological, biochemical, and immunological parameters were normal. Venous and arterial ultrasound of both legs was normal, with the presence of reactively enlarged left inguinal lymph nodes. Lyme disease was suspected based on the clinical picture, with a differential diagnosis of possible livedo reticularis. A biopsy of the skin changes was also performed, with the results showing that the histological picture in the examined material could be compatible with the provisional clinical diagnosis of livedo reticularis. IgM and IgG specific for Borrelia burgdorferi was also performed: IgG was borderline, whereas IgM was positive at 218 U/mL. Over the next 3 weeks, Amoxil 500 mg thrice daily was introduced to the treatment. After completion of the treatment, there was a gradual regression of all skin changes without the appearance of new lesions (Figure 2a and Figure 2b) (Figure 3a and Figure 3b). Patient follow-up over the next year did not find any recurrence of similar skin changes. Herein we have described the case of a patient with atypical skin changes in which the presence of antibodies for Borrelia burgdorferi was demonstrated, in which regression of all skin manifestations was achieved after diagnosis and adequate antibiotic treatment. Lyme disease has a wide spectrum of clinical manifestations that can generally be observed in three stages: the early localized stage, the early disseminated stage, and the late stage of the disease. However, it is also possible for the different stages to overlap and even for the late stage to manifest without any signs and symptoms of the earlier stages. Early localized stage. Characterized by skin changes - erythema migrans (EM) - usually manifests within a month of the tick bite (usually 7-14 days after the bite) (Figure 4 and Figure 5). EM manifests in approximately 80% of patients, but only 25% of patients can recall the tick bite. The skin changes are usually localized in the axilla, the groin, the cubital area, or around the waist. The changes are generally not painful, but can itch or be warm to the touch. They gradually spread over days or weeks and can grow to a radius of up to 20 cm. Initially, the coloration can be uniform for several days, after which the redness disappears around a central zone (4-6). Multiple skin changes are a sign of spirochetemia and not the result of multiple tick bites. Due to timely antimicrobial treatment, multiple skin changes are much rarer today. In the initial days or weeks after infection, patients with early, localized, or disseminated Lyme disease often present with non-specific signs and symptoms resembling a viral infection: fatigue, headache, loss of appetite, joint pain, and regional lymphadenopathy. Fever can be present in approximately 20% of patients. Laboratory findings in this phase are non-specific. Erythrocyte sedimentation can be slightly increased, leukocyte counts are mostly normal, and anemia and thrombocytopenia are present only rarely (7,8). Early disseminated stage. This stage is marked by numerous EM lesions (that generally appear days or weeks after the infection) and/or neurological and/or cardiac manifestations (occurring weeks or months after infection). Some of these patients have no data on the presence of early localized Lyme disease. The most common triad of neurological manifestations are meningitis, neuropathy (usually of the facial nerve) and motor or sensory radiculopathy (Bannwarth syndrome). All these manifestations can appear individually. Cranial nerve neuropathies can often be bilateral. Late-stage Lyme disease. Characterized by intermittent or permanent arthritis in one joint or several large joints, most commonly the knees, and/or more rarely by neurological symptoms such as discrete encephalopathy or polyneuropathy. Late-stage Lyme disease can develop several years after primary infection, and arthritis can be the first manifestation of the disease, with the early localized and early disseminated stages not manifesting at all. In Europe, patients with late-stage Lyme disease can present with chronic skin changes (acrodermatitis chronica atrophicans), which is not observed in the USA. It is caused by B. afzelii and is typically localized to the extensor surfaces of the hands and feet. It is most common in women >40 years of age but can also present in younger populations. However, due to early antimicrobial treatment of the earlier stages of the disease, late-stage manifestations are rare (9). The discovery of the etiology of this disease showed that some well-known clinical entities were also a manifestation of Borrelia infection. The etiology of other dermatologic diseases was thus determined, such as lymphocytoma (or lymphadenosis cutis benigna), which was recognized as an entity as early as 1884, as well as acrodermatitis chronica atrophicans, described in 1888, erythema chronicum migrans (Afzelius-Lipschütz), and the neurological disease called Bannwarth syndrome, the symptoms of which were described as early as 1922 (10,11). LB and all its dermatological manifestations occur in almost all European countries, predominantly in the central part of the continent. The annual incidence is between 9.4 cases per 100,000 inhabitants in France to 120 cases per 100,000 inhabitants in northeastern Poland, 130 cases per 100,000 inhabitants in Austria, and 155 cases per 100,000 inhabitants in Slovenia (12). The total prevalence of ACA in all European patients with LB is 1-10%, depending on the region. For example, BL and ACA comprise 0.3% of LB cases in Bulgaria. In Norway, ACA comprises 5% of all clinical LB cases, and in northern Italy that number is 2.5%. Establishing a diagnosis of ACA is much more difficult than diagnosing EM or benign lymphocytoma (BL) because the clinical manifestations of ACA can vary. Acrodermatitis chronica atrophicans is probably the most common late and chronic manifestation of LB that can be observed in European patients. The skin changes in our patient were fairly non-specific, based on descriptions from the literature, but positivity for IgM antibodies was important for establishing the diagnosis, along with the very good response to antibiotics regarding regression of skin changes as well as the histological analysis that, according to the pathohistological diagnosis, indicated livedo reticularis, which is in turn also described in the literature as a possible form of ACA depending on the stage of the disease. Skin changes on the lower extremities are often incorrectly interpreted as vascular insufficiency, e.g. chronic venous insufficiency, superficial thrombophlebitis, hypostatic eczema, obliterative arterial disease, acrocyanosis, livedo reticularis, or lymphoedema, but they can also be the result of ACA, as in our case (13-15). In cases such as the one we have described, clinical manifestations of Lyme disease can very often vary and differ greatly from the typical clinical picture. This is demonstrated by our case, which also shows that LB and its idiosyncratic manifestations can lead physicians astray in a condition where failing to establish a timely diagnosis can be fatal for the patient. This case report also serves as a reminder that Lyme disease should be considered whenever atypical skin changes are encountered. Given that ACA is a disease in the late stage of Lyme disease and that the changes in our patient were noticed at the very beginning, the disease did not develop to the later stage.
Topics: Humans; Lyme Disease; Female; Middle Aged
PubMed: 38651851
DOI: No ID Found -
Materia Socio-medica 2024Lyme borreliosis is a multisystemic infection caused by the spirochete Borrelia burgdorferi. Erythema migras is the main clinical marker of the disease.
BACKGROUND
Lyme borreliosis is a multisystemic infection caused by the spirochete Borrelia burgdorferi. Erythema migras is the main clinical marker of the disease.
OBJECTIVE
This study aimed was to investigate the frequency and clinical manifestations of European borreliosis on the skin, and to determine the significance of these findings for diagnosis and therapy.
METHODS
A retrospective-prospective clinical study of outpatients treated and monitored in a private clinic of an infectologist was conducted over nine years from to 2013-2021. The study was clinical, descriptive and analytical in nature.
RESULTS
In the investigated period, 509 (30.8%) patients with borreliosis symptoms were treated. EM in our patients occurred under the following conditions: a) ringed redness, b) redness of target cels and d) continuous round or oval redness of different sizes of individual redness, or multiple occurrences with primary dissemination. Skin changes with multiorgan chronic symptoms of borreliosis occurred in 67.7% of cases the including: walking redness of different shapes and sizes, pink borreliosis stretch marks, white borreliosis stretch marks, borreliosis palms and soles, psoriatic changes, Acrodermatitis chronica atrophicans, Scleroderma circumscripta-morphae, Erythema nodosum, Granuloma anulare and Lichen striatus et atrophicans. Of the 509 patients treated for borreliosis, 32.3% with multi-organ symptomatology had no skin changes.
CONCLUSION
The skin manifestations of European borreliosis are multi-layered and Erythema migrans are basic, but not the only markers of the disease. 'Pink borreliose stretch marks, "white borreliosis striae", "borreliosis palms or soles", and intermittent redness accompanied by itching are unique markers for the diagnosis of chronic borreliosis, if they are manifested.
PubMed: 38590600
DOI: 10.5455/msm.2024.36.33-39 -
Nederlands Tijdschrift Voor Geneeskunde Apr 2024During the past four decades the number of reported Lyme disease diagnoses in the Netherlands has increased to 27.000 a year, with a yearly incidence of Lyme disease...
During the past four decades the number of reported Lyme disease diagnoses in the Netherlands has increased to 27.000 a year, with a yearly incidence of Lyme disease between 111 (95% CI 106-115) to 131 (95% CI 126-136) per 100,000 person years. A large part of all Lyme disease diagnoses concern the skin; in the Netherlands, 77-89% erythema migrans, 2-3% borrelia lymfocytoom and 1-3% acrodermatitis chronica atrophicans. These skin manifestations have a variable clinical expression, reason why they can be difficult to diagnose. Early recognition and treatment is important to prevent the development of systemic manifestations.
Topics: Humans; Acrodermatitis; Lyme Disease; Skin Diseases; Erythema Chronicum Migrans; Exanthema
PubMed: 38568004
DOI: No ID Found -
Experimental Dermatology Mar 2024There are limited data on acrodermatitis continua of Hallopeau (ACH), particularly among Asian populations. The primary aim was to evaluate the clinical features of ACH...
There are limited data on acrodermatitis continua of Hallopeau (ACH), particularly among Asian populations. The primary aim was to evaluate the clinical features of ACH and treatment approaches in a sizeable multicentre Asian cohort. We analysed data from adult patients diagnosed with ACH. Of 65 patients with ACH, seven patients had ACH with GPP. Females were more frequently affected in both conditions. Five (71.4%) developed GPP 5-33 years after ACH onset, while two (28.6%) developed GPP concurrently with ACH. The onset age for ACH with GPP (27.9 ± 13.6 years) was earlier than that of isolated ACH (39.8 ± 17.3 years). Metabolic comorbidities were common. ACH exhibited a chronic persistent course. Among systemic non-biologics, acitretin was the most frequently prescribed, followed by ciclosporin and methotrexate. Acitretin and ciclosporin demonstrated similar marked response rates, which surpassed that of methotrexate. Regarding biologics, a marked response was more commonly observed with interleukin-17 inhibitors than with tumour necrosis factor inhibitors. Females are predominant in both conditions. The onset age for ACH among Asian patients is earlier (late 30s) than that for Caucasian patients (late 40s). Interleukin-17 inhibitors may be more effective than tumour necrosis factor inhibitors in managing ACH.
Topics: Adult; Female; Humans; Adolescent; Young Adult; Acitretin; Tumor Necrosis Factor Inhibitors; Interleukin-17; Methotrexate; Cyclosporine; Acrodermatitis; Retrospective Studies; Psoriasis; Biological Products
PubMed: 38519437
DOI: 10.1111/exd.15055 -
Experimental Dermatology Mar 2024Several studies have suggested that mutation of the interleukin 36 receptor antagonist gene (IL36RN) is related to generalized pustular psoriasis (GPP), and the presence...
Several studies have suggested that mutation of the interleukin 36 receptor antagonist gene (IL36RN) is related to generalized pustular psoriasis (GPP), and the presence of IL36RN mutation may affect the clinical manifestations and treatment responses. However, genetic testing is not routinely available in clinical practice for the diagnosis of GPP. Previously, GPP patients with acrodermatitis continua of Hallopeau (ACH) were found to have a high percentage of carrying IL36RN mutation. In this study, we reported six patients with pustular psoriasis presenting as diffuse palmoplantar erythema with keratoderma among 60 patients who carried IL36RN mutation. ACH was present in five patients and five patients had acute flare of GPP. This unique presentation may serve as a predictor for IL36RN mutation in patients with pustular psoriasis, similar to ACH.
Topics: Humans; Psoriasis; Mutation; Erythema; China; Interleukins
PubMed: 38488485
DOI: 10.1111/exd.15056