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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 -
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 -
Frontiers in Immunology 2024Generalized pustular psoriasis (GPP) is a rare chronic inflammatory pustular dermatosis that presents as painful erythema with sterile pustules on nonacral skin. No...
Generalized pustular psoriasis (GPP) is a rare chronic inflammatory pustular dermatosis that presents as painful erythema with sterile pustules on nonacral skin. No unified standard and guideline for the treatment of GPP has been established. Several biologics have been tried for GPP, with varying success. Acrodermatitis continua of Hallopeau (ACH) is a very rare disabling variant of pustular psoriasis characterized by sterile pustules on the fingers and toes, including the nail bed. Comparatively, treating ACH is highly challenging due to its commonly therapy-resistant disease course. The pathogenic role of IL-36 signaling axis has been currently identified in GPP development. Spesolimab, the first anti-interleukin-36 receptor biologic, has been approved for treating GPP flares and shown promising results. In view of a shared pathogenesis between GPP and ACH, specolimab may be an effective treatment for ACH. Currently, there is no case and clinical trial data exist on this condition. Therefore, this case was aim to describe real-world experience of spesolimab use in ACH coexisting with GPP. We report an Asian patient with a 16-year-history of GPP and ACH with marked pustulosis on the nail bed and onychodystrophy. He received conventional systemic regimen acitretin, cyclosporine and biologics adalimumab and secukinumab, but experienced relapse for skin lesions and refractory for nail lesions. He was then treated with a single dose of spesolimab in combination with secukinumab, which resulted in skin clearance and nearly complete resolution of nail lesions over a 32-week period. Our observation suggests that spesolimab should be considered for the treatment of ACH, especially in the patients with intractable nail lesions and concomitant GPP.
Topics: Male; Humans; Acrodermatitis; Psoriasis; Skin; Biological Products; Antibodies, Monoclonal, Humanized
PubMed: 38464535
DOI: 10.3389/fimmu.2024.1338285 -
Successful treatment of acrodermatitis continua of Hallopeau by TYK2 inhibitor with every other day.The Journal of Dermatological Treatment Dec 2024
Topics: Humans; Acrodermatitis; Exanthema; Psoriasis; Skin Diseases, Vesiculobullous; TYK2 Kinase
PubMed: 38387442
DOI: 10.1080/09546634.2024.2316239 -
Case Reports in Dermatology 2024Immune checkpoint inhibitors are new drugs approved for the treatment of many types of malignancies. Despite their wide use and unquestionable clinical benefits, these...
INTRODUCTION
Immune checkpoint inhibitors are new drugs approved for the treatment of many types of malignancies. Despite their wide use and unquestionable clinical benefits, these agents have also been associated with a unique spectrum of side effects known as immune-related adverse events. In this study, we report the first case of atezolizumab-induced pustular psoriasis and acrodermatitis.
CASE PRESENTATION
A 61-year-old woman presented to our department with erythematous-desquamative and pustular lesions involving all hands and feet fingers, inguinal region, and trunk, associated to severe psoriatic onychodystrophy. She was affected by non-small-cell lung carcinoma from 12 years, and 7 months before admission, she started a treatment with atezolizumab.
CONCLUSION
Immune checkpoint inhibitors such as atezolizumab are linked to a plethora of adverse events. Identifying and treating certain adverse skin events, particularly in cancer patients, can be a challenge, leading oncologists to discontinue immunotherapy. Our case shows how it is necessary to have a shared therapeutic algorithm in order to manage serious skin reactions in cancer patients and avoid disruption of the oncotherapy.
PubMed: 38384677
DOI: 10.1159/000535168 -
Clinical and Experimental Medicine Feb 2024This review provides a concise overview of the cellular and clinical aspects of the role of zinc, an essential micronutrient, in human physiology and discusses... (Review)
Review
This review provides a concise overview of the cellular and clinical aspects of the role of zinc, an essential micronutrient, in human physiology and discusses zinc-related pathological states. Zinc cannot be stored in significant amounts, so regular dietary intake is essential. ZIP4 and/or ZnT5B transport dietary zinc ions from the duodenum into the enterocyte, ZnT1 transports zinc ions from the enterocyte into the circulation, and ZnT5B (bidirectional zinc transporter) facilitates endogenous zinc secretion into the intestinal lumen. Putative promoters of zinc absorption that increase its bioavailability include amino acids released from protein digestion and citrate, whereas dietary phytates, casein and calcium can reduce zinc bioavailability. In circulation, 70% of zinc is bound to albumin, and the majority in the body is found in skeletal muscle and bone. Zinc excretion is via faeces (predominantly), urine, sweat, menstrual flow and semen. Excessive zinc intake can inhibit the absorption of copper and iron, leading to copper deficiency and anaemia, respectively. Zinc toxicity can adversely affect the lipid profile and immune system, and its treatment depends on the mode of zinc acquisition. Acquired zinc deficiency usually presents later in life alongside risk factors like malabsorption syndromes, but medications like diuretics and angiotensin-receptor blockers can also cause zinc deficiency. Inherited zinc deficiency condition acrodermatitis enteropathica, which occurs due to mutation in the SLC39A4 gene (encoding ZIP4), presents from birth. Treatment involves zinc supplementation via zinc gluconate, zinc sulphate or zinc chloride. Notably, oral zinc supplementation may decrease the absorption of drugs like ciprofloxacin, doxycycline and risedronate.
Topics: Humans; Copper; Zinc; Intestines; Ions; Cation Transport Proteins; Acrodermatitis
PubMed: 38367035
DOI: 10.1007/s10238-024-01302-6 -
JAAD Case Reports Mar 2024
PubMed: 38333677
DOI: 10.1016/j.jdcr.2023.12.009 -
Dermatology Reports Dec 2023Acrodermatitis dysmetabolica (AD) describes eruptions characterized by the clinical triad of acral dermatitis, diarrhea, and alopecia. AD can be caused by various...
Acrodermatitis dysmetabolica (AD) describes eruptions characterized by the clinical triad of acral dermatitis, diarrhea, and alopecia. AD can be caused by various metabolic disorders, one of which is maple syrup urine disease (MSUD). We present a 2- month-old boy diagnosed with MSUD by the age of 5 days and treated with branched-chain amino acid (BCAA) restricted diet, BCAAs formula, and thiamine supplementation. He was referred to dermatology with a 3-week history of diarrhea, progressive acrodermatitis enteropathica like cutaneous eruption and hair loss over the scalp treated with topical mometasone ointment, isoleucine supplementation and leucine restriction. Complete resolution of skin eruption was achieved by 4 weeks, which correlates with normalization of BCAA levels based on close monitoring of biochemical lab values and growth. This case emphasizes the dangers of limiting BCAA intake when treating MSUD, as well as the importance of close monitoring during the amino acid depleting period of growth.
PubMed: 38327590
DOI: 10.4081/dr.2023.9750