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Ethnic differences of the clinicopathological characteristics in many immune-mediated skin diseases have been reported, including psoriasis vulgaris (PV). However, the ethnic differences of pustular psoriasis have been less studied. The aim of this study was to compare the differences in epidemiology, genetic background, clinical manifestations, treatment patterns and responses among Asian and non-Asian patients with pustular psoriasis, including generalized pustular psoriasis (GPP) and acrodermatitis continua of Hallopeau (ACH). This systematic review was based on a comprehensive search of Cochrane, PubMed, and Embase databases from earliest available date to 31 December 2024, and all studies reporting on patients with either GPP or ACH irrespective of study design. Studies with study size below five patients or those focusing on quality of life or economic aspects were excluded. In each publication, the ethnic composition, demographics information, disease course and manifestation, as well as genetic mutations, treatment type and response were collected if available. Of 2187 screened studies, 141 studies were included, with the majority being cohort studies. Compared with other ethnicities, East Asians with GPP carried more null IL36RN mutations, while AP1S3 mutations seemed absent in Asians. Phenotypically, Asians had younger onset age, bimodal age distribution, less family history of PV, and more scalp/nail involvement. In Asians, absence of coexisting PV was associated with severe disease. GPP with PV had shorter pre-pustular duration among Asians than non-Asians. Use of acitretin appeared higher and more effective among East Asians compared with other populations. In ACH, Asians mostly carried homozygous null IL36RN mutations and had younger onset age, more multi-digit involvement, persistent treatment course, and more coexisting GPP than Europeans. Biologics use was less common in Asia in both GPP and ACH than in Europe and the US. This systematic review underscores notable ethnic differences in genetic profiles, clinical features, and therapeutic responses in GPP and ACH. The diagnosis of GPP and ACH may differ across studies and the true impacts of ethnicities on these differences remain to be confirmed. Nonetheless, the results from this study enhance our understanding of the heterogeneous characteristics of GPP and ACH, highlighting the necessity of incorporating ethnic differences into the diagnosis, genetic testing, and management strategies for patients with GPP and ACH.

Background and Objectives: Acquired acrodermatitis enteropathica (AE), a rare dermatological condition, often stems from nutritional zinc deficiency linked to prolonged total parenteral nutrition (TPN). This study aims to explore the pathogenesis, clinical characteristics, and treatment approaches for AE, emphasizing the importance of early recognition and intervention. Methods and Study Design: A 51-year-old female patient with acquired AE presented with widespread erythema, pustules, and itching. A comprehensive diagnostic approach, including various tests and skin biopsy pathology, confirmed the diagnosis. Treatment involved zinc gluconate supplementation, topical applications, and symptomatic TPN support. Results: Significant improvement was observed one week post-treatment, with reduced erythema, pustules, and skin lesions, along with improved hair loss. Erosive and ulcerative surfaces healed substantially, indicating positive treatment outcomes. Conclusions: The successful management of adult-onset AE in this case underscores the significance of recognizing clinical features and implementing effective treatment strategies. These findings provide valuable insights for diagnosing and managing AE.

Background Acrodermatitis enteropathica (AE) is a rare autosomal recessive condition caused by mutations in the SLC39A4 gene, leading to a zinc absorption disorder. The hallmark features of AE are periorificial erosive dermatitis, hair loss, and diarrhea. In this case report, we describe an 8-year-old child with AE who presented with septic shock. Case presentation In this case report, we described a case of AE in an 8-year-old boy who presented with severe erosive dermatitis and was referred to the emergency department with septic shock. The genetic tests reported a frameshift deletion on SLC39A4 , which confirmed the diagnosis of AE. After treatment with a therapeutic zinc supplement (3 mg/kg/day), his skin lesions began to heal, his hair regrew, and he showed significant improvement in both weight and social engagement. Conclusion Patients presenting with mucocutaneous erosive lesions, particularly in a periorificial pattern, should be considered for a diagnosis of AE. Timely intervention is crucial, as failure to treat the condition can serve as a potential source for sepsis and septic shock originating from cutaneous sources.

A 9-year-old boy who had been receiving oral zinc presented with 3 months of abdominal pain and diarrhea and a 1-year history of rash. Access to care had been delayed owing to the Covid-19 pandemic. Testing was performed.

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.

Zn is essential for growth and development. The bioavailability of Zn is affected by several factors such as other food components. It is therefore of interest, to understand uptake mechanisms of Zn delivering compounds to identify ways to bypass the inhibitory effects of these factors. Here, we studied the effect of Zn amino acid conjugates (ZnAAs) on the bioavailabilty of Zn. We used Caco-2 cells and enterocytes differentiated from human induced pluripotent stem cells from a control and Acrodermatitis enteropathica ( AE ) patient, and performed fluorescence based assays, protein biochemistry and atomic absorption spectrometry to characterize cellular uptake and absorption of ZnAAs. The results show that ZnAAs are taken up by AA transporters, leading to an intracellular enrichment of Zn mostly uninhibited by Zn uptake antagonists. Enterocytes from AE patients were unable to gain significant Zn through exposure to ZnCl 2 but did not show differences with respect to ZnAAs. We conclude that ZnAAs may possess an advantage over classical Zn supplements such as Zn salts, as they may be able to increase bioavailability of Zn, and may be more efficient in patients with AE .

Acrodermatitis continua of Hallopeau (ACH) is a rare, sterile pustular psoriasis variant refractory to many conventional treatments. The eruption typically occurs after local trauma or infection; other etiologies include neural, inflammatory, and genetic causes. Herein we reported a single case of a 64-year-old patient with ACH that was successfully treated with spesolimab for 19 weeks. A 64-year-old Chinese male with no personal or known family history of psoriasis had recurrent episodes of redness, swelling, and pustules in the nail bed on seven fingers with progressive degeneration of the nails. The patient was monitored as to the evolution of the disease over half of a year before he referred his case to our attention. A diagnosis of ACH was made, allowing for the administration of local steroids and oral acitretin. However, after 3 months of acitretin treatment, no improvement was observed. In December 2023, this patient came to our inpatient department; his modified nail psoriasis severity index score was 32. Before starting treatment, a comprehensive set of laboratory and instrumental tests were all found to be negative. Moreover, whole-exome sequencing was performed in our patient, and it revealed no rare coding variant in , , or . Therefore, the patient was administrated with a dose of 900 mg spesolimab. After 10 days, the patient showed a significant decrease in discomfort and pain. In order to strengthen the therapeutic effect, he was given the second dose of 900 mg spesolimab after 4 weeks. After 19 weeks of spesolimab treatment, the patient's nail lesions showed complete resolution, and no adverse effects were reported. The case report suggests that spesolimab may offer significant therapeutic benefits for ACH.

A 62-year-old Chinese woman presented to the hospital for help with generalized pustular psoriasis (GPP) and acrodermatitis continua of Hallopeau (ACH). While conventional treatments failed to achieve significant improvement, the patient received two doses of spesolimab, and the effect was remarkable. No adverse reactions were observed in the follow-up period.

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.

A 3-month-old, full term female infant, adequate for gestational age, and exclusively breastfed, was admitted with a 10 day history of generalised scaling erythematous dermatitis, affecting the face (perinasal, nasolabial folds and periauricular), acral and intertriginous areas, with irritability and failure to thrive. Her mother had been treated with isoniazid since the third trimester because of family contact with tuberculosis. Based on a diagnosis of suspected impetiginised eczema, the infant was treated with flucloxacillin and prednisolone, and maternal isoniazid was suspended, with no improvement. Investigations found low serum zinc levels in the infant (33 μg/dL; normal range (NR) >60 μg/dL), normal plasma zinc levels in the mother (111.3 μg/dL; NR 68–120 μg/dL) and lower than the normal range of zinc levels in breast milk (270μg/L; NR 1000–2500 μg/L), suggesting acrodermatitis caused by zinc deficiency. Oral zinc supplementation (3 mg/kg/day) was started with a marked improvement in skin lesions, as well as good weight gain. At the age of 6 months, after food diversification, supplementation was suspended, without any recurrence of symptoms.