Iatrogenic acrodermatitis enteropathicalike syndrome in. Some authors prefer to use the term acrodermatitis enteropathica only for the inherited disease. Lethal acrodermatitis is an autosomal recessive inherited disease of defective zinc metabolism in white bull terriers. The family history is unremarkable except for consanguinity 5 generations previously. Acrodermatitis enteropathica is a rare and severe genetic disorder, of autosomal recessive inheritance, which determines the deficiency of the intestinal absorption of zinc, an essential trace element required by more than one hundred enzymes and whose role in the metabolism of nucleic acid is important. Virus which is commonly associated with acrodermatitis or gianotticrosti syndrome is the epsteinbarr virus. Acrodermatitis enteropathica article about acrodermatitis.
It can occur as an acquired condition secondary to impaired intestinal absorption in a wide variety of clinical conditions. Acrodermatitis enteropathica is a lowincidence disease due to inherited or acquired. Van wouwe 1 european journal of pediatrics volume 149, pages 2 8 1989 cite this article. Symptoms of zinc deficiency may include skin lesions, diarrhea, increased susceptibility to infections, night blindness, reduced taste and smell acuity, poor appetite, hair loss, slow wound healing, low.
Its clinical presentation can vary based on serum zinc level and ranges from periorificial erosive dermatitis to psoriasiform dermatitis. Acrodermatitis enteropathica ae is a rare hereditary disorder caused by impaired absorption of zinc from the gastrointestinal tract. In patients with acrodermatitis enteropathica ae, zinc gluconate or sulfate is administered orally at a dosage of mgkgd. Psoriasiform dermatoses pd encompass a wide array of diseases, some of which show both clinical and histologic overlap. Acrodermatitis enteropathica ae is a rare disease characterised by a failure in intestinal zinc absorption, which results in a host of symptoms that can ultimately lead to death if left untreated.
Pdf on feb 1, 1984, p s mortimer and others published acrodermatitis enteropathica find, read and cite all the research you need on. It is a rare autosomal genetic disorder that results in the bodys inability to absorb zinc from the diet. Acrodermatitis enteropathica an overview sciencedirect topics. Acrodermatitis enteropathica ae, a disorder in which gastrointestinal absorption of zinc is defective, is inherited in an autosomal recessive fashion. Current clinical treatment involves lifelong highdose zinc supplements, which can introduce.
Unlike its inherited counterpart, acquired ae aae is often secondary to underlying pathologic or iatrogenic etiologies that interfere with. However, most patients fail to show the typical cutaneous manifestation of zinc deficiency, namely, acrodermatitis enteropathica. To report a case of acrodermatitis enteropathica, a rare disease with autosomal recessive inheritance. The lack of zinc can cause skin inflammation with a rash pustular dermatitis around the mouth andor anus.
The inborn form of ae is a rare genetic disorder characterized by intestinal abnormalities that lead to the inability to absorb zinc from the intestine. The word symptoms of acrodermatitis enteropathica is the more general meaning. Implications in acrodermatitis enteropathica eitan hoch y,z, moshe levy z, michal hersh. Early lesions of acrodermatitis enteropathica are characterized by loss of the granular layer, replacement of this layer by clear cells, and focal parakeratosis. We herein reported a patient with concurrent kwashiorkor and acquired acrodermatitis enteropathica. Acrodermatitis enteropathica ade is an uncommon, inherited disorder occurring due to defective zinc absorption.
Pdf kwashiorkor and concurrent acquired acrodermatitis. Diiodohydroxyquin has been found to be highly effective in inducing remissions. Common vitamins and supplements to treat acrodermatitis. Acrodermatitis or gianotticrosti syndrome often occurs in italian children who have hepatitis b, however, this relation is rarely observed in the united states. A case of acrodermatitis enteropathica jonathan sutton and thurein newin. The congenital form of ae is a rare genetic disorder characterized by an inborn defect in the gastrointestinal absorption of zinc. The histopathology of the disorder is reported in detail. Acrodermatitis enteropathica ae was diagnosed in 2 siblings, boy and girl, at the age of 10 and 6 weeks. Whole genome sequencing in an acrodermatitis enteropathica. The patient was a two years old male toddler, hospitalized due to skin changes, chronic diarrhoea and total alopecia. As the condition progresses, the epidermis becomes increasingly psoriasiform, the parakeratosis becomes more confluent, and the pallor of the upper part of the epidermis becomes more prominent. A form of dermatitis is typically the first manifestation of zinc deficiency. Acrodermatitis enteropathica or acquired zinc deficiency is the most likely diagnosis. It causes generalized debilitation and when untreated it is often fatal.
Acrodermatitis enteropathica and an overview of zinc metabolism published online october 30, 2006. The histopathology of acrodermatitis enteropathica. Clinical and laboratory diagnosis of acrodermatitis enteropathica j. In our opinion, in small children, genetic testing of family members to confirm acrodermatitis enteropathica is imperative given that, unlike in transient zinc deficiency, acrodermatitis enteropathica requires lifelong zinc substitution. Treatment for acrodermatitis enteropathica in lucknow, find doctors near you.
Written by and for dermatologists, pediatric specialists, and obgyns, this book contains one of the largest clinical research studies done on acrodermatitis enteropathica. The acrodermatitis enteropathicalike syndrome jama. Ae is known to be caused by mutations of the slc39a4 gene. Acrodermatitis enteropathica nord national organization for. Acrodermatitis enteropathica ae is a disorder of zinc metabolism that can either be inherited or acquired. The frequency of inherited cases is estimated at 1. Acrodermatitis or gianotticrosti syndromecausessigns.
Adult autoimmune enteropathy presenting initially with acquired. Rna and dna polymerases and thymidine kinase are zincdependent enzymes. Proposed theories for the cause of nae describe alterations in some metabolic factor, many of which are seen in other necrolytic erythemas, including necrolytic migratory erythema, pellagra, essential fatty acid and biotin deficiency, and acrodermatitis enteropathica. Acrodermatitis chronica atrophicans aca is an uncommon skin condition affecting distal parts of the limbs. Hargis, sherry myers, in pathologic basis of veterinary disease sixth edition, 2017. Recognition of the cutaneous manifestations of zinc deficiency can lead to early intervention with zinc. Rapid response was observed after adequate isoleucine supplementation. This disease affects the zince uptake which is characterized by periorificial or around the natural orifice and in the limbs or acral dermatitis, diarrhea and loss of hair or alopecia. It is characterized by acral and periorificial dermatitis, alopecia, and diarrhea. It is a rare disorder caused by inherited or acquired zinc deficiency. The clinical symptoms of the 2 patients conformed to the known features of ae, the gastrointestinal involvement loosing its significance with increasing age. Blood test to determine zinc level, which can help in ruling out genetic acrodermatitis enteropathica a rare form of acrodermatitis skin biopsy which can help in determining whether the rash is caused by something else such as eczema or ringworm.
Pdf diagnosis of acrodermatitis enteropathica in resource limited. Etiologic theories of acrodermatitis enteropathica ae and the reasons for the efficacy of diiodohydroxyquin diodoquin therapy were evaluated in a 21yearold woman with this disorder. Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc through the inner lining of the bowel, the mucous membrane. The exact cause or pathogenesis of the disorder is not known. An acrodermatitis enteropathica like syndrome occurred as a result of severe bowel disease and the use of zincdeficient hyperalimentation regimens. Diiodohydroxyquin has resulted in a remission of the disease. Extra intestinal manifestations of crohns disease cd could affect up to 35% of patients. Menurut organisasi kesehatan dunia who, malnutrisi adalah ketidakseimbangan selular antara suplai makanan dan energi dengan kebutuhan tubuh untuk menjamin pertumbuhan, pemeliharaan, dan fungsifungsi spesifik. Acrodermatitis enteropathica definition of acrodermatitis.
Patients with repetitive bacterial skin superinfections may be misdiagnosed for months after initial presentation, as in the case of our patient. Acrodermatitis enteropathica in preterm infants can be due to zincdeficient breast milk or a mutation of the transporter protein. The patient is a 46yearold woman who has had a mild intermittent form of the disease most of her life. Acrodermatitis enteropathica treatment, acrodermatitis. Acrodermatitis enteropathica symptoms, signs and treatment. Acrodermatitis enteropathica is a rare skin disorder of zinc deficiency. Acrodermatitis enteropathica nord national organization.
Acrodermatitis chronica enteropathica vitamins diary. Acrodermatitis enteropathica a clinicians guide pooya. Acrodermatitis enteropathica is a rare autosomal recessive disorder of zinc deficiency. Acrodermatitis enteropathica typically appears in the first few weeks after birth if the child is fed bovine milk or shortly after cessation of breastfeeding. Acrodermatitis enteropathica is diagnosed based on the pedigree, typical clinical manifestations on the skin, laboratory results, small bowel biopsy, skin biopsy and kariotype. To report a case of acrodermatitis enteropathica, a rare disease with. Acrodermatitis enteropathica is a metabolic disorder and is autonomic recessive. Kwashiorkor is a form of proteinenergy malnutrition with a characteristicf flaky paintg dermato sis. Acrodermatitis enteropathica is a rare inherited form of zinc deficiency, characterized by periorificial and acral dermatitis, alopecia, and diarrhea. Its main symptoms are dermatitis, alopecia, recurrentdiarrhea anddevelopmental retardation. It is the most common manifestation of the late stage of lyme disease.
Acrodermatitis enteropathica in an adult jama dermatology. Acrodermatitis definition of acrodermatitis by medical. It may also be associated with hepatitis b and other viral infections. May 20, 2016 acrodermatitis enteropathica is a rare condition. Acrodermatitis enteropathica ae is a disorder of zinc metabolism that can. Both forms lead to the inability to absorb zinc from the intestine. The name was coined by danbolt and closs 1 in 1942 to describe the acrally predominant rash present in some patients with diarrhea. We report a case of acquired nutritional ae in a 6monthold female infant who had diarrhoeal episodes. Acrodermatitis enteropathica an overview sciencedirect.
Zndtsm, a zinc ionophore with therapeutic potential for. The manifestations of ae include alopecia, diarrhoea. Acrodermatitis enteropathica during adequate enteral. Case report acrodermatitis enteropathica in an adult. There are annular, well demarcated, erythematous, crusted plaques and vesicles distributed symmetrically around orifices and hands. The defect is in a gene that encodes a transmembrane protein that helps the body take in zinc. Acrodermatitis enteropathica medical definition merriam. A comprehensive guide to acrodermatitis enteropathica is the only book of its kind to give insight into this rare disorder. The following case report of acrodermatitis enteropathica is unique.
Acrodermatitis enteropathica ae is the most representative zinc deficiency. Acrodermatitis enteropathica has no sexual predilection. What is papular acrodermatitis of childhood papular acrodermatitis of childhood is a characteristic response of the skin to viral infection in which there is a papular rash that lasts for several weeks other names sometimes used for this skin condition include gianotticrosti syndrome, papulovesicular acrodermatitis of childhood, infantile papular acrodermatitis, and acrodermatitis. Abstract a patient with a variant form of acrodermatitis enteropathica ae without hypozincemia is presented who showed a rise in plasma zinc and partial improvement on a. It appears as an inflammatory rash around the mouth andor anus.
Recognizing and properly treating acrodermatitis enteropathica is. The diagnosis of iatrogenic acrodermatitis enteropathica like syndrome was confirmed after screening showing isoleucine deficiency. Zinc deficiency in north america is most clearly seen in the disease acrodermatitis enteropathica. Detection of the gene mutation is also important for the prognosis and treatment of other children in the. Acrodermatitis enteropathica ae is a rare disorder of zinc deficiency, which manifests as acral and periorificial dermatitis, alopecia, intractable. Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc through the inner lining of the bowel, the mucous. It usually presents with skin lesions, diarrhoea andor alopecia. May 18, 2017 acrodermatitis enteropathica ae is a rare dermatitis secondary to zinc deficiency most commonly seen as an inherited disease in infants. Medical definition of acrodermatitis enteropathica. Acrodermatitis enteropathica ae is an autosomal recessive disorder characterized by defective absorption of zinc, thickened, ulcerated skin on the extremities and around body orifices, alopecia, diarrhea, growth failure, and abnormalities in immune function.
Dermis acrodermatitis enteropathica information on the. Acrodermatitis enteropathica ae is a rare inherited zinc deficiency that usually manifests in infancy within days in cases of bottlefed infants and days to weeks after weaning in breastfed infants. Primary and acquired acrodermatitis enteropathica have similar cutaneous and noncutaneous findings. The phrase signs of acrodermatitis enteropathica should, strictly speaking, refer only to those signs and symptoms of acrodermatitis enteropathica that are not readily apparent to the patient. Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc, characterized by periorificial around the natural orifices and acral in the limbs dermatitis, alopecia loss of hair, and diarrhea. Acrodermatitis enteropathica and an overview of zinc. We present a case of severe acquired acrodermatitis enteropathica in a vegan adult female with multiple underlying comorbidities. The hypothesized causes for the metabolic alteration include hypoalbuminemia. Acrodermatitis enteropathica is a lowincidence disease due to inherited or acquired zinc deficiency. The genetic defect has been mapped to 8q24 and the. Gianotticrosti syndrome is a childhood skin condition that may be accompanied by mild symptoms of fever and malaise. Clinical and laboratory diagnosis of acrodermatitis enteropathica. Although defective zinc metabolism andor absorption are thought to play a role. Identification of slc39a4, a gene involved in acrodermatitis enteropathica.
Polski 2014, pdf russian 2014, pdf suomi 2014, pdf guidance for genetic testing. Acrodermatitis enteropathica genetic and rare diseases. Acrodermatitis enteropathica in a patient with short bowel. Viral infections are common precipitating factors for gcs. Acrodermatitis enteropathica is also referred to as brandt syndrome, danboltcross syndrome or zinc deficiency.
Acrodermatitis enteropathica on 15 month old female characterised by periorificial and acral dermatitis and alopecia. Acrodermatitis enteropathicahereditary zinc deficiency. Acrodermatitis enteropathica ae is a rare inherited metabolic condition that affects zinc absorption and inheritance is often seen in an autosomal recessive pattern. Gianotticrosti syndrome gcs, also known as papular acrodermatitis, papular acrodermatitis of childhood, and infantile papular acrodermatitis, is a selflimited skin disorder that most often occurs in young children. Gcs typically manifests as a symmetric, papular eruption. Zinc plays a crucial role in nucleic acid metabolism. Acrodermatitis enteropathica and an overview of zinc metabolism. Acrodermatitis enteropathica ae is an autosomal recessive disorder with the clinical triad of acral dermatitis, diarrhea and alopecia. Patients with kwashiorkor may have a low serum level of zinc. Pdf acrodermatitis enteropathica ae is a rare inherited zinc deficiency that usually manifests in infancy within days in cases of bottlefed. Acrodermatitis enteropathica ae is an inherited defect in zinc absorption that leads to hypozincemia. Considering taking a vitamin or supplement to treat acrodermatitis enteropathica.
Adult autoimmune enteropathy presenting initially with. It is characterized by inflammation of the skin around bodily openings periorificial and the tips of fingers and toes acral, hair loss, and diarrhea. Although the intravenous dosage has not clearly been estimated, amounts of 300 mcgkgd may be sufficient for rapid reversal of symptoms. This is an autosomal recessive disease due to a zinc metabolic errornot well definedwhich leads to zinc. It is an intimidating task even to experienced microscopists to give a precise diagnosis every time and one relies heavily on clinical correlation. Controlled studies on a metabolic ward were carried out intermittently over a 2.
Gianotti crosti syndrome pictures, causes, treatment and. Nov 09, 2011 acrodermatitis enteropathica ae is a disorder of zinc metabolism that can either be inherited or acquired. Acrodermatitis enteropathica is a rare familial disease of uncertain etiology manifested by a dermatitis of the acral areas, a gastrointestinal disturbance, stomatitis, and alopecia. To research the causes of acrodermatitis enteropathica, consider researching the causes of these these diseases that may be similar, or associated with acrodermatitis enteropathica.
It is characterised by diarrhoea, dermatitis, alopecia and systemic symptoms. It is characterized by acral dermatitis, alopecia, diarrhea and growth retardation. Acrodermatitis enteropathica ae is a rare dermatitis secondary to zinc deficiency most commonly seen as an inherited disease in infants. Manifestations of the disease typically present when the affected infant is weaned from breast feeding. Acquired acrodermatitis enteropathica or zincdeficiency dermatitis is the most common diagnosis than many practitioners realize with up to 10% of the patients in developed nations with the risk of zinc deficiency.
Clinical variants of acrodermatitis enteropathica and its corelation. Emphasis is placed on early and adequate zinc replacement to effectively prevent or reverse this entity. Acrodermatitis enteropathica and the relation to pellagra. Acrodermatitis enteropathica is a rare genetic autosomal recessive disorder, characterized by periorificial dermatitis, alopecia, and diarrhea.
The prevalence of acrodermatitis enteropathica ae is unknown. Acrodermatitis enteropathica ae is a disorder of zinc metabolism that occurs in one of three forms. Below is a list of common natural remedies used to treat or reduce the symptoms of acrodermatitis enteropathica. Aug 21, 2019 1, 15 thus, not all infants who have an acrodermatitis enteropathicalike presentation have the genetic disorder. In the last decade, increased number of reports have been published on the acquired form that presents in adulthood. Acrodermatitis enteropathica ae is a rare disease in early childhood and it ends in death if not treated. Mammalian zinc metalloenzymes include alkaline phosphatase. Elucidating the h coupled zn2 transport mechanism of zip4. The acrodermatitis enteropathica like eruption in our patient was due to an iatrogenic amino acid nutritional imbalance. Zinc and acrodermatitis enteropathica american academy.
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