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BMC Pediatrics Jan 2020Acrodermatitis enteropathica (AE) is a rare autosomal recessive hereditary skin disease caused by mutations in the SLC39A4 gene and is characterized by periorificial... (Review)
Review
Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature.
BACKGROUND
Acrodermatitis enteropathica (AE) is a rare autosomal recessive hereditary skin disease caused by mutations in the SLC39A4 gene and is characterized by periorificial dermatitis, alopecia and diarrhoea due to insufficient zinc absorption. Only one of the three known sets of twins with AE has genetic information. This case reports the discovery of new mutation sites in rare twin patients and draws some interesting conclusions by analysing the relationship between genetic information and clinical manifestations.
CASE PRESENTATION
Here, we report a pair of 16-month-old twin boys with AE exhibiting periorificial and acral erythema, scales and blisters, while subsequent laboratory examination showed normal plasma zinc and alkaline phosphatase levels. Further Sanger sequencing demonstrated that the patients were compound heterozygous for two unreported SLC39A4 mutations: a missense mutation in exon 5 (c.926G > T), which led to a substitution of the 309th amino acid residue cysteine with phenylalanine, a splice site mutation occurring in the consensus donor site of intron 5 (c.976 + 2 T > A). A family study revealed that the boys' parents were heterozygous carriers of these two mutations.
CONCLUSION
We identified a new compound heterozygous mutation in Chinese twins with AE, which consisted of two previous unreported variants in exon 5 and intron 5 of SLC39A4. We propose an up-to-date review that different mutations in SLC39A4 may exhibit different AE manifestations. In conjunction with future research, our work may shed light on genotype-phenotype correlations in AE patients and provide knowledge for genetic counselling and treatment for AE patients.
Topics: Acrodermatitis; Cation Transport Proteins; Diseases in Twins; Female; Heterozygote; Humans; Infant; Male; Mutation; Pedigree; Zinc
PubMed: 31987033
DOI: 10.1186/s12887-020-1942-4 -
Acta Bio-medica : Atenei Parmensis Jul 2023Background and aim Acrodermatitis enteropathica is a rare disorder characterized by the triad composed by dermatitis, alopecia and diarrhoea. Its acquired form can be...
Background and aim Acrodermatitis enteropathica is a rare disorder characterized by the triad composed by dermatitis, alopecia and diarrhoea. Its acquired form can be caused by inadequate zinc intake, malabsorptive processes, excessive renal or intestinal loss. A rare cause of acquired zinc deficiency is iatrogenic nutritional deficiency due to parenteral nutrition. The diagnosis can be really difficult because the early clinical signs are non-specific and patient's eventual comorbidities can often mask symptoms. Methods: A 5-years-old child affected by several comorbidities, consequent to C. Koseri meningo-encephalitis occurred in the neonatal period, was admitted to Pediatric ward for acute pancreatitis and had been fed via total parenteral nutrition for one month. Symptoms started approximately 15 days after the start of a standardized parenteral nutrition mixture. The child presented with diarrhoea, alopecia and erythematous bullous skin lesions, distributed predominantly in acral and periorificial sites and not responsive to topical treatments. Zinc serum dosage were very low (10 µg/dL, with normal values 68-107 µg/dL). Clinical improvement was very fast after oral zinc supplementation (5mg/daily), with a rapid regularisation in the intestinal habits and re-epithelialization of the skin lesions. Results and Conclusions: Trace elements are an essential component of parenteral nutrition. The supplementation of trace elements is an important part of the parenteral nutrition prescription. Even few days of zinc shortage, especially in frail patients, may cause a severe dermatitis that can be easily prevented. Despite its rarity, acrodermatitis enteropathica should be strongly considered in the differential diagnosis of skin lesions for these patients.
Topics: Humans; Child, Preschool; Parenteral Nutrition; Diagnosis, Differential; Alopecia; Diarrhea; Zinc
PubMed: 37486600
DOI: 10.23750/abm.v94iS1.14489 -
Indian Journal of Dermatology 2021
PubMed: 35068511
DOI: 10.4103/ijd.IJD_663_20 -
Future Science OA Mar 2021Gianotti-Crosti syndrome (GCS) is a self-limited benign dermatosis, clinically characterized by a monomorphic papular or papulovesicular eruption symmetrically...
Gianotti-Crosti syndrome (GCS) is a self-limited benign dermatosis, clinically characterized by a monomorphic papular or papulovesicular eruption symmetrically distributed on the limbs and face of children. Various viral and vaccine triggers have been associated with GCS. Recurrences are uncommon but have been reported. We report a case of recurrent vaccine-triggered GCS.
PubMed: 34046199
DOI: 10.2144/fsoa-2020-0200 -
Indian Journal of Dermatology 2022Dermatitis as an initial manifestation of cystic fibrosis (CF) is unusual. The eruption is usually first noted in the perineum anywhere from several days to few months...
Dermatitis as an initial manifestation of cystic fibrosis (CF) is unusual. The eruption is usually first noted in the perineum anywhere from several days to few months after birth. It subsequently spreads to the extremities and trunk. We report a 2-month-old male baby who presented with failure to thrive, hypoproteinemia, anemia, and a cutaneous eruption resembling acrodermatitis enteropathica. Oral zinc supplementation resulted in temporary resolution of the dermatitis. A further workup revealed the diagnosis of CF. The rash was responsive to nutritional and pancreatic enzyme supplementation.
PubMed: 36386118
DOI: 10.4103/ijd.IJD_243_17 -
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 -
Journal of the European Academy of... Oct 2022The spectrum of pustular skin disorders (PSD) is large and particularly challenging, including inflammatory, infectious and amicrobial diseases. Moreover, although...
BACKGROUND
The spectrum of pustular skin disorders (PSD) is large and particularly challenging, including inflammatory, infectious and amicrobial diseases. Moreover, although pustules represent the unifying clinical feature, they can be absent or not fully developed in the early stage of the disease. The line-field confocal optical coherence tomography (LC-OCT) is a recently developed imaging technique able to perform a non-invasive, in vivo, examination of the epidermis and upper dermis, reaching very high image resolution and virtual histology.
OBJECTIVES
We aimed to investigate the potentialities of LC-OCT in the non-invasive differential diagnosis of a series of 11 PSD with different aetiology, microscopic features, body location and incidence rates.
MATERIALS AND METHODS
Complete LC-OCT imaging (i.e. 2D/3D frames, videos) was performed on a total of 19 patients (10 females and 9 males) aged between 35 and 79 years. Images were blindly evaluated and compared with corresponding histopathologic findings.
RESULTS
The LC-OCT imaging was able to detect with high accuracy the pustule structure including shape, margins, morphology and cellular content, along with peculiar epidermal and adnexal alterations in each condition, including: Acute Generalized Exanthematous Pustulosis, Generalized pustular psoriasis, Generalized pustular figurate erythema, Subcorneal Pustular Dermatosis, Intraepidermal IgA pustulosis, Palmoplantar pustulosis, Palmoplantar pustular psoriasis. Herpetic whitlow, Acrodermatitis continua of Hallopeau, Vesicopustular Sweet syndrome and Vesicopustular Eosinophilic cellulitis, with pustular appearance, were also compared.
CONCLUSIONS
The new LC-OCT can represent a rapid, non-invasive and painless tool which can help differentiating among PSD of different aetiology and microscopic morphology in clinical mimickers in daily practice.
Topics: Adult; Aged; Diagnosis, Differential; Erythema; Exanthema; Female; Humans; Male; Middle Aged; Psoriasis; Skin Diseases, Vesiculobullous; Tomography, Optical Coherence
PubMed: 35694879
DOI: 10.1111/jdv.18324 -
New Microbes and New Infections Jun 2023The tick is the main vector of and tick-borne encephalitis virus in Switzerland Spotted fever group Rickettsiae (SFG) and have been detected in Swiss ticks, however,...
BACKGROUND
The tick is the main vector of and tick-borne encephalitis virus in Switzerland Spotted fever group Rickettsiae (SFG) and have been detected in Swiss ticks, however, information about the extent and clinical presentation of these infections in humans is scant.
METHODS
Indirect fluorescent antibody tests for SFG rickettsiae and were performed on serum samples of 121 seropositive patients with and without Lyme disease and 43 negative controls.
RESULTS
Out of 121 seropositive individuals, 65 (53.7%) were seropositive for IgG and 15 (12.4%) for IgM antibodies to SFG rickettsiae. IgM antibodies were detected more frequently in early-than in late-stage of Lyme disease (12 out of 51 and 2 out of 49; respectively; p = 0.0078). Significantly higher IgG antibody titers against SFG rickettsiae were found in patients with late-stage compared to patients with early-stage Lyme disease (mean titer 1:261 and 1:129, respectively; p = 0.038). This difference was even more pronounced in patients with acrodermatitis chronica atrophicans compared to patients with early stage of Lyme disease (mean titer 1:337 and 1:129, respectively; p = 0.009).In patients presenting with fatigue, headache and myalgia, the prevalence of IgG antibodies against SFG rickettsiae was significantly higher (7 out of 11; 63.6%) than in seropositive individuals without clinical illness (1 out of 10; 10%; p = 0.024). IgG antibodies to were detected in 12 out of 121 individuals (9.9%), no IgM antibodies were found.
CONCLUSION
Infections with SFG rickettsiae and are underdiagnosed and should be ruled out after a tick bite. Further studies are needed to elucidate the possible causative role of SFG rickettsiae for myalgia, headache and long-lasting fatigue after a tick bite and to determine the necessity for an antibiotic treatment.
PubMed: 37168237
DOI: 10.1016/j.nmni.2023.101139 -
Frontiers in Pediatrics 2022The clinical data and gene sequencing results in a child with acrodermatitis enteropathica were retrospectively reported, and the related literature was reviewed. A girl...
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 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.
PubMed: 36479285
DOI: 10.3389/fped.2022.972030 -
Indian Journal of Dermatology 2023
PubMed: 37275799
DOI: 10.4103/ijd.ijd_884_22