Prior to that time wende 2 and brandt 3 had reported bizarre bullous dermatoses, which in retrospect were acrodermatitis enteropathica. Acrodermatitis enteropathica is a skin condition peculiar to children that may be accompanied by mild symptoms of fever and malaise. Acrodermatitis enteropathica genetic and rare diseases. Pdf diagnosis of acrodermatitis enteropathica in resource limited. 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. The documents contained in this web site are presented for information purposes only. Acrodermatitis enteropathica is an autosomal recessive condition associated with a zinc deficiency.
It usually presents with skin lesions, diarrhoea andor alopecia. Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc through the inner lining of the bowel, the mucous membrane. Nov 09, 2011 acrodermatitis enteropathica ae is a disorder of zinc metabolism that can either be inherited or acquired. The clinical symptoms of the 2 patients conformed to the known features of ae, the gastrointestinal involvement loosing its significance with increasing age. However, zinc levels are a poor marker of true zinc status, so clinical features and responsiveness to a therapeutic trial of oral zinc are the best tests in suspected cases. Acrodermatitis enteropathica ae is an autosomal recessive metabolic disorder characterized by periorificial and acral dermatitis, alopecia, diarrhea and hair loss tabanlioglu et al. Pdf acrodermatitis enteropathica ae is a rare inherited zinc deficiency that usually manifests in infancy within days in cases of bottlefed.
Dermatopathology slide atlas they are stored as adobe pdf files and you will need a reader to access these. Acrodermatitis enteropathica ae is an autosomal recessive condition resulting in severe zinc deficiency. Ocular histopathology of acrodermatitis enteropathica. This report details the ocular histopathology of a child who died before efficacious treatment was available. Follow the links to read common uses, side effects, dosage details and read user. This condition is now known to be caused by a systemic zinc deficiency secondary to a defect in the intestinal absorption of zinc and it illustrates the metabolic importance of this element in man. Summary acrodermatitis enteropathica ae is a rare, recessively inherited. Acrodermatitis enteropathica ace is a rare, autosomal recessive inherited disorder caused by mutation of the slc39a4 gene coding. In the last decade, increased number of reports have been published on the acquired form that presents in adulthood. Acrodermatitis enteropathica is a metabolic disorder and is autonomic recessive. Epsteinbarr virus ebv, mononucleosis is the virus most often associated with acrodermatitis. 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. Early lesions of acrodermatitis enteropathica are characterized by loss of the granular layer, replacement of this layer by clear cells, and focal parakeratosis.
Adults can have zinc deficiency and have very similar symptoms, difficult to. Acrodermatitis enteropathica is the clinical expression of congenital zinc deficiency and is now treated with supplemental zinc. The defect is in a gene that encodes a transmembrane protein that helps the body take in zinc. Acrodermatitis enteropathica is rare autosomal recessive disorder characterized by a severe nutritional zinc deficiency. Unlike its inherited counterpart, acquired ae aae is often secondary to underlying pathologic or iatrogenic etiologies that interfere with. Acrodermatitis enteropathica in an adult jama dermatology. Case report acrodermatitis enteropathica in an adult. Acrodermatitis enteropathica ae is an autosomal recessive disorder with the clinical triad of acral dermatitis, diarrhea and alopecia. It is a rare disorder caused by inherited or acquired zinc deficiency. The prevalence of acrodermatitis enteropathica ae is unknown. Can adult people have acrodermatitis enteropathica and why. The family history is unremarkable except for consanguinity 5 generations previously.
Acrodermatitis enteropathica is an autosomal recessive disorder occurring as a result of mutations in the slc39a4 gene located on band 8q24. Acanthosis nigricans acanthosis nigricans2 acne keloidalis nuchae. The symptoms of the disease usually start within the first few months when infants are weaned from breast milk. The diagnosis of acrodermatitis enteropathica is clinical and can be confirmed by a low concentration of zinc in the serum. It is characterized by inflammation of the skin around bodily openings periorificial and the tips of fingers and toes acral, hair loss, and diarrhea. The deficiency is caused by a defect of dietary zinc absorption in the duodenum and jejunum. Acrodermatitis enteropathica ae is a disorder of zinc metabolism that can either be inherited or acquired. Acrodermatitis enteropathica nord national organization. Acrodermatitis enteropathica article about acrodermatitis. Other articles where acrodermatitis enteropathica is discussed.
Acrodermatitis chronica atrophicans means persistent inflammation of the skin of the extremities with atrophy tissue loss. Pdf acrodermatitis enteropathica is a rare genetic autosomal recessive disorder, characterized by periorificial dermatitis, alopecia, and diarrhea. Acrodermatitis definition of acrodermatitis by medical. Acrodermatitis enteropathica symptoms, signs and treatment. It is characterized by acral and periorificial dermatitis. Adult autoimmune enteropathy presenting initially with.
Acrodermatitis enteropathica or acquired zinc deficiency is the most likely diagnosis. Cases that are marked with an asterisk are part of the 200 must know cases for dermatology boards. It may also be associated with hepatitis b infection or other viral infections. Acrodermatitis enteropathica ae is a rare hereditary disorder caused by impaired absorption of zinc from the gastrointestinal tract. Acrodermatitis enteropathica is a rare inherited form of zinc deficiency, characterized by periorificial and acral dermatitis, alopecia, and diarrhea. Acrodermatitis acrodermatitis is a childhood form of dermatitis selectively affecting the hands and feet and may be accompanied by mild symptoms of fever. Acrodermatitis enteropathica presenting with recurrent diarrhea and vomiting in an infant reluctant to breastfeed, and a peculiar. Acrodermatitis enteropathica is a lowincidence disease due to inherited or acquired zinc deficiency. A case of acrodermatitis enteropathica localized on the hands and feet with a normal serum zinc level sungyul lee, m. Maverakis e, fung ma, lynch pj, draznin m, michael dj, ruben b, et al.
It can also be related to deficiency of zinc due to other, i. The rare bullous variant of acrodermatitis enteropathica can be distinguished histologically. Below is a list of common natural remedies used to treat or reduce the symptoms of acrodermatitis enteropathica. Zinc is an essential micronutrient with better bioavailability from human milk than cows milk or other infant formulae. Acrodermatitis enteropathica and an overview of zinc metabolism. 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. 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. 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. Part iii cases descriptions of acrodermatitis enteropathica. It is the most common manifestation of the late stage of lyme disease. Manifestations of the disease typically present when the affected infant is weaned from breast feeding. We and others have recently identified the human gene encoding an intestinal zinc transporter of the zip family, slc39a4, as the mutated gene in acrodermatitis enteropathica ae.
In italian children, gianotticrosti syndrome is seen frequently with hepatitis b. Ae is known to be caused by mutations of the slc39a4 gene. Pdf acrodermatitis enteropathica is a rare autosomal recessive disorder present with charateristic. Acrodermatitis enteropathica has been recognized as a rare clinical entity distinct from epidermolysis bullosa dystrophica since 1942, when danbolt and closs 1 classically described the disease. World map of acrodermatitis enteropathica find people with acrodermatitis enteropathica through the map.
The congenital form of ae is a rare genetic disorder characterized by an inborn defect in the gastrointestinal absorption of zinc. Acrodermatitis enteropathica definition of acrodermatitis. Acrodermatitis enteropathica ae is a rare dermatitis secondary to zinc deficiency most commonly seen as an inherited disease in infants. What is the life expectancy of someone with acrodermatitis. Common vitamins and supplements to treat acrodermatitis. Acrodermatitis enteropathica ae is a disorder of zinc metabolism that occurs in one of three forms. Dermis acrodermatitis enteropathica information on the.
In this case, a diagnosis of acrodermatitis enteropathica was made, which was supported by detecting low serum zinc level 31. Some authors prefer to use the term acrodermatitis enteropathica only for the inherited disease. Iatrogenic electrodessication artifact inflammatory. We present a female infant with acrodermatitis enteropathica with crusting of the periorificial regions along with perineal plaques. Both forms lead to the inability to absorb zinc from the intestine. Acrodermatitis enteropathicahereditary zinc deficiency. Acrodermatitis enteropathica was first described by brandt 1 in 1936 and, was named by danbolt 2. Aug 21, 2019 acrodermatitis enteropathica is an autosomal recessive disorder occurring as a result of mutations in the slc39a4 gene located on band 8q24. It is characterized by acral dermatitis, alopecia, diarrhea and growth retardation. 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.
Acrodermatitis enteropathica an overview sciencedirect topics. Concurrence of acrodermatitis enteropathica and eczema. Acrodermatitis enteropathica is a rare genetic autosomal recessive disorder, characterized by periorificial dermatitis, alopecia, and diarrhea. Pdf acrodermatitis enteropathica a clinicians guide. Acrodermatitis chronica atrophicans aca is an uncommon skin condition affecting distal parts of the limbs. The lack of zinc can cause skin inflammation with a rash pustular dermatitis around the mouth andor anus. Acrodermatitis enteropathica is a rare and severe genetic disorder, of autosomal recessive inheritance, which determines the deficiency of the. Acrodermatitis enteropathica is also called acrodermatitis enteropathy, primary zinc malabsorption syndrome, danboltcloss syndrome and brandt syndrome 68. The histopathology of acrodermatitis enteropathica. We present a case of severe acquired acrodermatitis enteropathica in a vegan adult female with multiple underlying comorbidities. Below is a list of common natural remedies used to treat or reduce the symptoms of acrodermatitisenteropathica.
Pdf zinc deficiency and acrodermatitisenteropathica in a. Department of dermatology, yonsei university wonju college of medicine, wonju, korea acrodermatitis enteropathica is classified as a congenital. A case of acrodermatitis enteropathica localized on the hands. Acrodermatitis enteropathica is a rare disorder of zinc metabolism that occurs in one of two forms. The dermatological condition may mimic a cutaneous fungal infection or other pathogenrelated skin diseases. Acrodermatitis enteropathica ae was diagnosed in 2 siblings, boy and girl, at the age of 10 and 6 weeks.