Extremely rare complication in high-risk newborn on long-term parenteral nutrition and large stool losses through ileostomy.

AIM: To analyse postnatal characteristics, clinical and laboratory findings, results of investigations in the newborn (25 gestational weeks; Apgar score: 6/9 points; born per caesarean section; birth weight: 600 g; birth length: 31 cm; head circumference: 21 cm) from the first high-risk pregnancy with acquired form of acrodermatitis enteropathica. RESULTS: After summarizing the clinical picture with laboratory findings, we analysed the components of parenteral nutrition with regard to the deficiency of trace elements and vitamins. The zinc depletion dominated. CONCLUSION: The diagnosis is clinical, based on the presence of a typical clinical picture together with a low serum zinc concentration. Standard preparations with elementary elements do not sufficiently cover the daily needs of children, other possibilities of supplementation in intravenous form are not available. It is necessary to supplement zinc in premature children, in children with high losses of zinc (with diarrhoea, in patients with a stoma, in patients with severe skin disease) (Fig. 4, Ref. 15).

Variants of SLC39A4 cause acrodermatitis enteropathica in Tibetan, Yi, and Han families in Sichuan region of southwestern China: a case report series.

Acrodermatitis enteropathica (AE, OMIM 201100) is a rare autosomal recessive dermatosis characterized by periorificial dermatitis, diarrhea, alopecia, and hypozincaemia due to pathogenic variants of SLC39A4. 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 SLC39A4 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.

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.

Role of zinc in health and disease.

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 novel case of limbal stem cell deficiency in a patient with acrodermatitis enteropathica.

An 18-year-old male diagnosed with acrodermatitis enteropathica (AE) since early childhood presented with worsening of dermatitis along with photophobia and watering in both eyes. Systemic evaluation by dermatology and gastroenterology specialists confirmed a diagnosis of acute exacerbation of AE, and oral zinc supplements were initiated. A best-corrected visual acuity of 20/20 was documented in both eyes. Slit-lamp examination revealed bilateral subepithelial corneal opacities in a radial fan-like pattern extending from the superior limbus toward the center. A whorled appearance of fluorescein staining and small epithelial erosions was noted in both eyes. Ocular involvements in AE such as blepharitis, cataracts, and radial corneal opacities have been reported previously. We report a new association of AE with limbal stem cell deficiency with its classical features of linear subepithelial corneal opacities with a whorling uptake of fluorescein stain and corneal erosions.

Zinc: an undervalued microelement in research and treatment.

Recent years have seen a growing interest in a healthy lifestyle, particularly nutrition. An important component of a balanced diet is the microelement content. Zinc is the second most abundant trace element, after iron. It has antioxidant and immunomodulatory functions, and plays important roles in the pathogenesis of various diseases, including dermatoses. Individuals with a zinc deficiency may present with nonspecific erythematous, pustular, erosive, and bullous lesions as well as alopecia, nail dystrophy, and a variety of systemic symptoms. Any individual assessment of zinc levels should consider risk factors for deficiency, clinical symptoms, type of diet, and results of laboratory analyses. Recent research has shed light on the systemic and topical effects of zinc, indicating the value of its supplementation for many conditions.

Acrodermatitis Enteropathica: A Rare Case With Lifelong Implications.

Acrodermatitis enteropathica is a rare genetic disorder caused by a defect in intestinal zinc absorption, resulting in zinc deficiency and various clinical manifestations, including dermatitis, diarrhea, alopecia, and nail abnormalities. Here we present the case of a 10-year-old male child with diarrhea, and abdominal pain for several months who was diagnosed with acrodermatitis enteropathica confirmed by low serum zinc levels. The child had multiple erythematous, scaly, and crusted lesions on the hands and elbows, which resolved after starting oral zinc sulfate supplementation (10 mg/kg/day) in three divided doses. The patient's serum zinc levels normalized (1.0 µg/mL), and the skin lesions completely resolved after six months of follow-up with a regular zinc-rich diet and gradual reduction of zinc sulfate dosage to a maintenance level (2-4 mg/kg/day). This case report emphasizes the importance of timely diagnosis and treatment of acrodermatitis enteropathica to prevent the harmful consequences of zinc deficiency and highlights the need for healthcare providers to consider this disorder in children presenting with skin lesions and diarrhea, particularly those with a positive family history or consanguinity.

Enterokinase deficiency with novel TMPRSS15 gene mutation masquerading as acrodermatitis enteropathica.

Enterokinase deficiency (EKD) is a rare autosomal recessive inherited disorder caused by loss-of-function mutations of the transmembrane protease serine 15 (TMPRSS15) gene. To date, only 12 cases of EKD have been described in the literature and skin involvement has seldom been described. We identified a novel homozygous nonsense mutation in the TMPRSS15 gene (c.1216C>T, p.R406*) in a female infant, who manifested with acrodermatitis enteropathica (AE)-like lesions that were dramatically relieved within 11 days after initiation of a protein-rich hydrolyzed formula. Our case shows that AE-like rashes can be a manifestation of EKD and expands the spectrum of causative mutations in the TMPRSS15 gene.

Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation.

The clinical data and gene sequencing results in a child with acrodermatitis enteropathica were retrospectively reported, and the related literature was reviewed. A girl aged 9 years and 4 months presented with a repeated skin rash, mainly distributed in the perioral, anogenital, and acral areas, accompanied with alopecia, and a low blood zinc level was found many times. A significant improvement was seen after continuous zinc supplementation. The genetic sequencing test demonstrated that the patient had compound heterozygous for two SLC39A4 mutations: c.1466dupT (p.S490Efs*155) and c.295G > A (p.A99T), and her parents were heterozygous carriers of these two mutations. An improvement was achieved after continuous zinc supplementation. This case report might guide further research on this aspect.

A Rare Case Of Severe Acrodermatitis Enteropathica During Covid-19 Lockdown.

Acrodermatitis Enteropathica is a rare hereditary condition characterized by perioral dermatitis, diarrhoea, and alopecia. Aetiology includes autosomal recessive inheritance and acquired causes such as protein malnutrition, malabsorption syndromes, premature births, parenteral nutrition, chronic illnesses, and alcoholism. We report a rare case of a 12-year-old boy who presented with cutaneous manifestations involving the whole body, diarrhoea, and sparse hairs. A low level of plasma zinc, and alkaline phosphatase level was found, and he was started on zinc supplements. He significantly improved in a few days, and was discharged after counselling the parents about treatment compliance. This case highlights importance of early diagnosis, and the importance of treatment compliance in Acrodermatitis Enteropathica. It also stresses the need to take measures to ensure the provision of health facilities especially in remote areas.

A case of acrodermatitis enteropathica mimicking mutilating palmoplantar keratoderma.

Acrodermatitis enteropathica (AE) is a rare inherited form of defective zinc absorption usually manifesting as eczematous and erosive dermatitis preferably over periorificial and acral areas which at times mimics various hereditary palmoplantar keratodermas (PPK). We reported a 6-year-old boy who presented with hard plaques over both palm and sole, and periorificial areas, and flexion attitude of digits without any history of diarrhea and prolonged illness. The patient improved dramatically with zinc supplementation including correction of flexion deformities of the fingers. There was improvement of serum alkaline phosphatase level within 3 months. The lesions reappeared again whenever there was discontinuation of therapy for few weeks, thus confirming it to be zinc deficiency dermatoses. This kind of manifestation has rarely been described in earlier literature.

Dermatological manifestations relating to nutritional deficiencies after bariatric surgery: case report and integrative literature review

ABSTRACT BACKGROUND: The number of bariatric surgeries performed worldwide is growing. Among the main short, medium or long-term complications after surgery are nutritional deficiencies. Many of these, such as those of Zn, Cu and vitamins A, B1, B3, B6 and B12, are manifested by dermatological lesions before potentially fatal systemic disorders occur. OBJECTIVE: To identify the main dermatological manifestations associated with nutritional deficiencies after bariatric surgery, and the associated variables. DESIGN AND SETTING: Integrative literature review carried out at a public university in Brazil. METHODS: This was a case report and a review of health research portals and databases of national and international biomedical journals, without publication date limitation. The descriptors used for searches followed the ideal methodology for each database/search portal: "bariatric surgery", "skin", "skin disease", "skin manifestation", "deficiency disease" and "malnutrition". RESULTS: A total of 59 articles were selected, among which 23 were review articles or articles that addressed specific dermatological manifestations. The other 36 articles described 41 cases, which were organized into a table with the clinical variables. CONCLUSIONS: Although nutritional deficiencies are expected as complications after bariatric surgery, few articles relating them to their dermatological manifestations were found. It is important to recognize skin changes caused by nutritional deficiencies in patients treated via bariatric surgery, as these may occur before systemic complications appear and are easier to diagnose when the patient does not have any systemic symptoms yet. However, there is generally a delay between the appearance of skin lesions and making the diagnosis of nutritional deficiency.

[Recurrent systemic sporadic rash for 10 years in a girl aged 11 years]. / 11å²å¥³å­©åå¤å ¨èº«æ•£åœ¨çš®ç–¹10å¹´.

A girl, aged 11 years, was admitted due to recurrent rash on the whole body and mucosa for 10 years, and typical rash was erythema at the perioral region, hand-foot joints, vulva, and perianal region, with blisters, erosions, and ulcers on the erythema. The girl was improved after zinc supplementation. Her younger brother had similar rash and medical history. The histopathological examination showed epidermal parakeratosis with mild hyperkeratosis, severe spongiform edema of the stratum corneum, significant proliferation of acanthocytes, and vacuolation of keratinocytes. The genetic testing revealed that both the girl and her younger brother had a homozygous mutation of c.1456(exon9)delG in the SLC39A4 gene, and thus the girl was diagnosed with acrodermatitis enteropathica. It is concluded that for children with recurrent rash on the limbs and at the perioral region, genetic testing should be performed as early as possible to make a confirmed diagnosis, and a sufficient dose of zinc supplementation should be given, while the levels of trace elements such as blood zinc should be regularly monitored.

[Dermatologic manifestations of vitamin and mineral deficiency]. / Hautveränderungen bei Vitamin- und Mineralstoffmangel.

Vitamin and mineral deficiency can lead to a wide variety of clinical symptoms. The skin, as a frequent site of manifestation of these diseases, can be a decisive cue for diagnosis. Deficiency occurs when micronutrients are insufficiently supplied to the organism, intestinal absorption is disturbed, or there are genetic defects that favor a deficiency. Predisposing factors and common triggers for diseases associated with deficiency in our latitudes are alcoholism, autism, psychiatric illnesses, eating disorders, special forms of nutrition (e.g., veganism), medications, gastrointestinal illnesses, bariatric surgeries, and periods of increased need (e.g., growth, pregnancy, lactation, infections). This article presents general and specific mucocutaneous changes that should suggest vitamin or mineral deficiency. Since vitamin C and zinc deficiency are among the deficiency dermatoses that cause characteristic skin symptoms, the symptoms of scurvy and acrodermatitis enteropathica are examined in more detail.

Secondary acrodermatitis enteropathica-like skin findings in a case of methylmalonic acidemia.

Methylmalonic acidemia (MMA) is an autosomal recessive genetic disorder caused by decreased activity of methylmalonyl-CoA mutase or metabolic disturbance of its coenzyme cobalamin, cutaneous manifestations are rare clinical signs in this disease. Herein, we describe a Chinese boy with MMA fed with a formula lacking branched-chain amino acids presenting with erythroderma and acrodermatitis enteropathica-like rash, a homozygous nonsense mutation c.742C>T (p.Gln248*) was identified in the MMAA gene. The pedigree exhibited a non-Mendelian inheritance pattern which was attributed to maternal uniparental disomy on chromosome 4q26-q34.1 of the proband, confirmed by chromosomal microarray analysis. Our case highlights the association between skin changes and nutritional deficiency due to therapeutic amino acid restrictions in MMA.

[Diagnosis of a rare and severe inflammatory bowel disease in an infant with peri-orificial ulcerations]. / Diagnostic d'une maladie inflammatoire rare et sévère de l'intestin chez un nourrisson présentant des ulcérations péri-orificielles.

We report the case of an infant aged 8 and a half months, who had an apparent life-threatening event and died despite optimal resuscitation management. The medical history was marked by mild symptoms, mainly feeding difficulties and progressively settling skin lesions. Parents were related (first cousins) and the patient had two healthy older sisters. Autopsy showed growth delay, symmetrical erythematous and ulcerated periorificial lesions associated with punctiform erythematous lesions of the face and alopecia. Microscopic examination revealed deep bronchial inhalation with the onset of infectious pneumopathy, major inflammatory ulceration of the gastrointestinal tract, hepatic steatosis, brain stem and pancreas abnormalities. We conclude that the cause of death was a multi-visceral failure with inhalation pneumopathy, in a context of very early onset inflammatory bowel disease (VEO-IBD). Genetic consultation, into a rare disease reference center, allowed to orient the analysis, to identify a homozygous pathogenic variant in the IL10RA gene, confirming the diagnostic of an autosomal recessive very early onset inflammatory bowel disease (inflammatory bowel disease 28, early-onset, autosomal recessive, #613148).

Acquired Zinc Deficiency Mimicking Acrodermatitis Enteropathica in a Breast-Fed Premature Infant.

We present a case of a transient acquired zinc deficiency in a breast-fed, 4-month-old-male prematurely born infant, with acrodermatitis enteropathica-like symptoms such as crusted, eroded, erythemato-squamous eruption in periorificial and acral patterns. The laboratory investigations showed low zinc levels in the infant's and the mother's serum and in the mother's milk; genetic analysis did not show any mutation in the SLC39A4 gene, involved in acrodermatitis enteropathica. Acquired zinc deficiency is often found in premature infants because of their increased requirement, the low serum and milk zinc levels in breastfeeding women being also an important risk factor, as in this case. A prompt zinc supplementation is essential for the good prognosis of the disease.