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Brandt Syndrome

AE

Brandt syndrome (BS) is also called acrodermatitis enteropathica (AE). It is a congenital disease that causes zinc deficiency due to malabsorption. Inherited in an autosomal recessive pattern, BS characteristically presents with dermatitis, diarrhea and hair loss.


Presentation

Brandt syndrome (BS) is an autosomal recessive inborn error of metabolism that usually occurs in early childhood, particularly in children who have recently been weaned off breast milk, or a few weeks after birth in children who are not breast fed. Symptoms are primarily due to zinc deficiency, secondary to reduced absorption of zinc [1]. Acquired deficiency of this mineral is seen in adulthood, and the signs are the same as those of BS [2] [3] [4]. Zinc deficiency can be caused by various factors, like restricted diet, gastrointestinal pathologies such as celiac disease, alcoholism, excessive intake of phytates, burns and renal disease [5] [6].

The clinical triad for BS is dermatitis, diarrhea, and alopecia, although few patients present in this way [7]. Dermatitis characteristic of BS includes periorificial, around the mouth and eyes, and acral dermatitis, which affects the extremities. Skin lesions may be pustular, vesicular, erythematous and crusted. In addition, they have a clear demarcation and may resemble eczema or psoriasis. As the condition progresses, lesions may spread to other areas of the body such as the buttocks and thighs. Alopecia is noted in the hair as well as eyebrows and eyelashes. Other dermatological symptoms are dysmorphic nails and superimposed bacterial or fungal infection. The latter may make the correct diagnosis even more difficult to ascertain.

Involvement of mucosal surfaces may manifest in the form of blepharitis, conjunctivitis and inflamed gums and stomatitis [8]. Furthermore, patients may also show changes in mood, photophobia, increased susceptibility to infection, mental dullness, a reduced sense of taste and anorexia. In infants, additional symptoms comprise of failure to thrive, growth retardation and irritability.

Malnutrition
  • In congenital acrodermatitis enteropathica these lesions begin to appear after weaning is started. [1,4] History of malnutrition Malnutrition especially zinc deficiency leads to the development of acquired acrodermatitis enteropathica. [2] Positive family[explainmedicine.com]
  • Histopathologic findings are typically indistinguishable from other forms of malnutrition dermatitis.[bmcdermatol.biomedcentral.com]
  • We assume that in our patient the skin lesions were the result of malnutrition, rather than being primarily associated with the underlying metabolic disease.[ijp.mums.ac.ir]
  • Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I. Eur J Dermatol. 2001 May-Jun. 11(3):244-6. [Medline]. Van Wouwe JP. Clinical and laboratory diagnosis of acrodermatitis enteropathica.[emedicine.com]
Weight Loss
  • Growth retardation, alopecia, weight loss and recurrent infections were prevalent in toddlers and schoolchildren. Spontaneous remission may occur at adolescence. 2. The severity of symptoms also varies.[ncbi.nlm.nih.gov]
  • It presents as erythematous skin lesions, hyperglucagonemia, diabetes mellitus, anemia, weight loss, glossitis, cheilitis, neuropsychiatric disturbances, steatorrhea and diarrhea.[explainmedicine.com]
  • loss 0001824 Percent of people who have these symptoms is not available through HPO Alopecia of scalp Pathologic hair loss from scalp Scalp hair loss [ more ] 0002293 Ataxia 0001251 Autosomal recessive inheritance 0000007 Decreased serum testosterone[rarediseases.info.nih.gov]
  • CASE A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital.[kjim.org]
Recurrent Infection
  • Growth retardation, alopecia, weight loss and recurrent infections were prevalent in toddlers and schoolchildren. Spontaneous remission may occur at adolescence. 2. The severity of symptoms also varies.[ncbi.nlm.nih.gov]
  • Mother revealed similar cutaneous manifestations and chronic diarrhea in her first child, who succumbed to recurrent infections at the age of 6 months.[ijpd.in]
  • Other common features include minor digital anomalies (85%), impaired speech development (80%), genital abnormalities in males (73%), hypotonia (69%), eye abnormalities such as strabismus and nystagmus (62%), joint laxity (62%) and recurrent infections[molecularautism.biomedcentral.com]
Short Stature
  • AE is associated with short stature, anaemia, skin hyperpigmentation, hepatosplenomegaly, hypogonadism, poor wound healing, immune deficiency, recurrent bacterial and fungal infections due to immune defect.[medical-dictionary.thefreedictionary.com]
  • […] loss 0001596 Cerebral cortical atrophy Decrease in size of the outer layer of the brain due to loss of brain cells 0002120 Chronic diarrhea 0002028 Dry skin 0000958 Erythema 0010783 Malabsorption Intestinal malabsorption 0002024 Pustule Pimple 0200039 Short[rarediseases.info.nih.gov]
  • Other issues may include speech apraxia/dyspraxia, short stature, small hands and feet, scoliosis, sleep disturbances with excessive daytime sleepiness, undescended testicles in males, high pain threshold, and infertility.[fpwr.ca]
Turkish
  • Turkish Journal of Medical Sciences 32 / 2 (Şubat 2002): 193-.[dergipark.gov.tr]
  • , ZIP4, regulates human epidermal homeostasis. ( 27940220 ) Bin B.H....Cho E.G. 2016 12 Acrodermatitis Enteropathica: A Case Report. ( 27196457 ) Nistor N....Streanga V. 2016 13 Acrodermatitis enteropathica: A novel mutation of the SLC39A4 gene in a Turkish[malacards.org]
Splenomegaly
  • […] dysfunction 0005435 Infantile onset Onset in first year of life Onset in infancy [ more ] 0003593 Irritability Irritable 0000737 Lethargy 0001254 Low alkaline phosphatase Decreased serum alkaline phosphatase 0003282 Recurrent candida infections 0005401 Splenomegaly[rarediseases.info.nih.gov]
Diarrhea
  • Inherited in an autosomal recessive pattern, BS characteristically presents with dermatitis, diarrhea and hair loss.[symptoma.com]
  • Diarrhea, generalized alopecia and Beau-Reil lines on the nails are frequent manifestations. Paronychia, conjunctivitis, blepharitis and erythematous oral mucous membranes are also sometimes observed.[orpha.net]
  • […] or malabsorption History of refractory diarrhea or malabsorption is present in many patients with acrodermatitis enteropathica.[explainmedicine.com]
  • Management Oral zinc. acrodermatitis enteropathica Congenital zinc deficiency An AR condition characterized by dermatitis and diarrhea; the dermatitis affects the cheeks, elbows, knees, periorbital and perianal regions, and is accompanied by hair loss[medical-dictionary.thefreedictionary.com]
Failure to Thrive
  • Case2: Two-month-old male patient was admitted with diffuse erythemateous and pathcy, exfoliated skin eruptions, anemia, hypoalbuminemia, edema, diarrhea, failure to thrive and bronchiolitis history.He was thought to be CF; treated with PERT and skin[erj.ersjournals.com]
  • Diets with high amounts of phytate, chronic alcoholism, total parenteral nutrition, anorexia nervosa and bulimia nervosa are other causes of zinc deficiency. [1,5] Failure to thrive Failure to thrive is also a common feature seen in acrodermatitis enteropathica[explainmedicine.com]
  • In infants, additional symptoms comprise of failure to thrive, growth retardation and irritability. Diagnosis of BS incorporates clinical assessment as well as laboratory studies.[symptoma.com]
  • Other features associated with severe and chronic zinc deficiency include failure to thrive, mental slowness, photophobia, hypogeusia, anemia, poor wound healing, hypogonadism in males, and delayed puberty.[orpha.net]
Chronic Diarrhea
  • History of excessive irritability and chronic diarrhea was present. The parents had no history of consanguinity.[ijpd.in]
  • Chronic diarrhea leads to malabsorption and acquired acrodermatitis enteropathica. Secondary causes of acquired zinc deficiency includes chronic pancreatitis, malabsorption syndromes, blind loop syndrome and cirrhosis.[explainmedicine.com]
  • diarrhea 0002028 Dry skin 0000958 Erythema 0010783 Malabsorption Intestinal malabsorption 0002024 Pustule Pimple 0200039 Short stature Decreased body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Blepharitis Inflammation[rarediseases.info.nih.gov]
  • Zinc dependency as a cause of chronic diarrhea in variant acrodermatitis enteropathica. Pediatrics. 1982;69(6):773-7. 22. Koch SE, Packman S, Koch TK, Williams ML. Dermatitis in treated maple syrup urine disease.[ijp.mums.ac.ir]
  • Diagnostic criteria necessitate chronic diarrhea ( 6 weeks) with malabsorption refractory to dietary modification, presence of autoantibodies, no known immunodeficiency, and histologic findings that exclude other causes of villous atrophy [ 9 ].[bmcdermatol.biomedcentral.com]
Cheilitis
  • It presents as erythematous skin lesions, hyperglucagonemia, diabetes mellitus, anemia, weight loss, glossitis, cheilitis, neuropsychiatric disturbances, steatorrhea and diarrhea.[explainmedicine.com]
  • Mucosal features include red glossy tongue, angular cheilitis and mouth ulcers. Wound healing is impaired.[dermnetnz.org]
  • […] skin 0000958 Erythema 0010783 Malabsorption Intestinal malabsorption 0002024 Pustule Pimple 0200039 Short stature Decreased body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Blepharitis Inflammation of eyelids 0000498 Cheilitis[rarediseases.info.nih.gov]
  • The lesions may develop over the arms and legs as well as the anogenital and periorificial areas. 5 Other notable manifestations that may present early in the course of AE include angular cheilitis followed by paronychia.[mdedge.com]
  • Physical examination revealed erythema and desquamation along the extremities (Fig. 1a ), plantar feet (Fig. 1b ), and palmar hands (Fig. 1c ), paronychia, angular cheilitis with lip fissure, glossitis, ulcerations and satellite erosions in the lumbosacral[bmcdermatol.biomedcentral.com]
Oral Ulcers
Alopecia
  • Alopecia is noted in the hair as well as eyebrows and eyelashes. Other dermatological symptoms are dysmorphic nails and superimposed bacterial or fungal infection. The latter may make the correct diagnosis even more difficult to ascertain.[symptoma.com]
  • AE is characterised by a triad of periorificial and acral dermatitis, diarrhoea and alopecia.[omicsonline.org]
  • It is characterized by skin lesions on acral and periorificial areas and may be associated to alopecia, diarrhea and increased frequency of infections.[termedia.pl]
  • Diarrhea, generalized alopecia and Beau-Reil lines on the nails are frequent manifestations. Paronychia, conjunctivitis, blepharitis and erythematous oral mucous membranes are also sometimes observed.[orpha.net]
Blister
  • These blisters would not be intact, may worsen in warmer climates and would be more evident on exposed areas such as the feet, elbows, hands and knees. The blisters would heal with thickening of the skin on soles and palms with no scarring evident.[omicsonline.org]
  • […] gastrointestinal disturbances such as diarrhea, as well as total alopecia. ac·ro·der·ma·ti·tis en·ter·o·path·'i·ca [MIM*201100] a progressive hereditary defect of zinc metabolism in young children (onset, 3 weeks-18 months); often manifests first as a blistering[medical-dictionary.thefreedictionary.com]
  • Later they become crusted and blisters appear. Rupture of blisters expose the purulent eroded skin lesions. [1,2,4] Alopecia Diffuse hair loss in scalp, eye lashes and eye brows can be seen.[explainmedicine.com]
  • Individuals with acrodermatitis enteropathica may present with the following: Blistering of skin Dry skin Emotional lability Glossitis PustuleAlopecia (loss of hair from the scalp, eyebrows, and eyelashes) may occur.[en.wikipedia.org]
  • Skin biopsy The most common reason for conducting a skin biopsy is to look for characteristic features like pustules, blisters and presence of flakes. The histopathological findings are necessary for the appropriate diagnosis of the condition.[primehealthchannel.com]
Eczema
  • In addition, they have a clear demarcation and may resemble eczema or psoriasis. As the condition progresses, lesions may spread to other areas of the body such as the buttocks and thighs.[symptoma.com]
  • […] granuloma Non-hereditary acrodermatitis enteropathica Papular acrodermatitis of childhood Papular acrodermatitis, childhood Papulosquamous dermatosis Papulosquamous disorder Perleche Pitted keratolysis Protothecosis of skin Pustular bacterid Pustular eczema[icd9data.com]
  • The lesions may resemble eczema or develop further into coated cysts (crusted vesicles), pustules or bullas. The lesions on the skin may further be infected by bacteria , for instance, Staphylococcus aureus, or fungi such as Candida albicans .[herbs2000.com]
  • […] sign of hepatitis blood test to look for the presence of EBV antibodies, which can mean an EBV infection is present skin biopsy (the removal of a small sample of skin) to check for other skin conditions that may present as a rash, such as ringworm or eczema[healthline.com]
Irritability
  • Children are highly irritable.[explainmedicine.com]
  • In infants, additional symptoms comprise of failure to thrive, growth retardation and irritability. Diagnosis of BS incorporates clinical assessment as well as laboratory studies.[symptoma.com]
  • Irritability and emotional disturbances can also occur. The inherited form is caused by mutations in the SLC39A4 gene and inherited in an autosomal recessive pattern. The acquired form can result from diets lacking the appropriate amount of zinc.[rarediseases.info.nih.gov]
  • […] in the gastrointestinal absorption of zinc typically presents when the affected infant is weaned from breast feeding acquired form due to nutritional zinc deficiency, e.g. in premature infants who receive prolonged parenteral alimentation Features: irritability[gpnotebook.co.uk]
  • In the acute phase, irritability and emotional disturbances are evident due to wasting (atrophy) of the brain cortex. synonyms Acrodermatitis Enteropathica UMLS Acrodermatitis enteropathica, Acrodermatitis enteropathica syndrome, Brandt syndrome, Brandt's[dermis.net]

Workup

Diagnosis of BS incorporates clinical assessment as well as laboratory studies. In a patient suspected to have BS because of their clinical symptoms, serum zinc levels, which may be depleted, can be calculated. A value less than 50 micro-grams per deciliter implies BS [5]. Measuring zinc in the hair and urine is also done, but this is not common [7]. Serum alkaline phosphatase levels may be low. If it is in the normal range, however, this does not rule out BS. Further, the administration of zinc and an improvement in symptoms is used to confirm the diagnosis.

Genetic testing for the mutation in the solute carrier family 39 member 4 (SLC39A4) gene are not routinely available.

Light and electron microscopy may be utilized in the analysis of biopsy samples. A breast feeding infant's mother can have her breast milk screened for low zinc, as an inadequate concentration in breast milk may be the cause of zinc deficiency in an infant [9].

Histological examination of lesions yields findings such as neutrophils in the epidermal layer as well as abnormal keratinization of the epidermis, pallor, tissue necrosis and hyperplasia. However, such details may also be noticed in other nutritional diseases.

Alkaline Phosphatase Decreased
  • phosphatase Decreased serum alkaline phosphatase 0003282 Recurrent candida infections 0005401 Splenomegaly Increased spleen size 0001744 Tremor Tremors 0001337 Showing of 44 Last updated: 6/1/2019 Making a diagnosis for a genetic or rare disease can[rarediseases.info.nih.gov]

Treatment

  • Management and treatment There is no cure for AE. In the majority of cases, zinc supplementation therapy results in the disappearance of AE symptoms, but this treatment is life-long and relapses can occur.[orpha.net]
  • Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Please see also our disclaimer . This site complies with the HONcode standard for health information: verify here . Database updated 2019-02-19.[diseasesdatabase.com]
  • It did not improve after local treatment, but it was spreading. He was first admitted to the hospital with this disease for treatment when he was 6 months old and when recurrent diarrhea was observed.[healio.com]

Prognosis

  • Prognosis With adherence to life-long zinc substitution therapy, the prognosis is good. Only when infants are left untreated can the disease be fatal. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Without treatment, the prognosis of acrodermatitis enteropathica is bad, with mortality occurring between four and five years of age. In the acute phase, irritability and emotional disturbances are evident due to wasting of the brain cortex.[streetdirectory.com]

Etiology

  • Etiology AE is due to a mutation in the SLC39A4 gene (8q24.3) that encodes a zinc transporter protein (called the Zip4 transporter).[orpha.net]
  • Zinc deficiency and its management in the pediatric population: a literature review and proposed etiologic classification. J Am Acad Dermatol. 2013 Oct. 69(4):616-624.e1. [Medline]. Baruch D, Naga L, Driscoll M, Kao G.[emedicine.medscape.com]

Epidemiology

  • Summary Epidemiology The prevalence of AE is unknown. It is more common in the North-West of Tunisia.[orpha.net]
  • […] mutation in a zinc transport protein encoded by the SLC39A4 gene and perhaps alteration in a zinc transport ligand. [17] However, a case was reported of a patient with a new mutation of SLC39A4 who had normal zinc levels and a milder phenotype. [18] Epidemiology[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • الصفحة 450 - Pathophysiological mechanisms involved in genesis and spread of muscular tension in occupational muscle pain and in chronic musculoskeletal pain syndromes: a hypothesis. ‏[books.google.com]
  • Pathophysiology Zinc is an essential trace nutrient required for the proper function of more than 100 enzymes and plays a crucial role in nucleic acid metabolism. [1, 2] Acrodermatitis enteropathica is an autosomal recessive disorder postulated to occur[emedicine.com]

Prevention

  • Emphasis is placed on early and adequate zinc replacement to effectively prevent or reverse this entity.[ncbi.nlm.nih.gov]
  • How can this disease be prevented? Increased zinc supplementation in affected women during pregnancy will prevent subtle or overt expression of AEZ because of the increased demand for zinc.[clinicaladvisor.com]
  • Emphasis is placed on early and adequate zinc replacement to effectively prevent or reverse this entity. ( Arch Dermatol 115:597-599, 1979) Full Text Download PDF Full Text Cite This Citation Brazin SA, Johnson WT, Abramson LJ.[jamanetwork.com]
  • While testing for zinc levels, collection of fasting blood samples in trace element-free collection tubes, preventing hemolysis of samples, usage of disposable polyethylene gloves free of talc or other coatings while handling the samples, and processing[ijdvl.com]
  • Zinc stabilizes cell membranes by reducing free radicals and preventing lipid peroxidation.[emedicine.medscape.com]

References

Article

  1. Weismann K, Hoe S, Knudsen L, Sørensen SS. 65Zinc absorption in patients suffering from acrodermatitis enteropathica and in normal adults assessed by whole-body counting technique. Br J Dermatol. 1979;101(5):573–579.
  2. Wierdsma NJ, van Bokhorst-de van der Schueren MA, Berkenpas M, Mulder CJ, van Bodegraven AA. Vitamin and mineral deficiency are highly prevalent in newly diagnosed celiac disease patients. Nutrients. 2013;5(10):3975–3992.
  3. Bae-Harboe YS, Solky A, Masterpol KS. A case of acquired zinc deficiency. Dermatol Online J. 2012;18(5):1.
  4. Shahsavari D, Ahmed Z, Karikkineth A, Williams R, Zigel C. Zinc-deficiency acrodermatitis in a patient with chronic alcoholism and gastric bypass: a case report. J Community Hosp Intern Med Perspect. 2014;4(3).
  5. Maverakis E, Fung MA, Lynch PJ, et al. Acrodermatitis enteropathica and an overview of zinc metabolism. J Am Acad Dermatol. 2007;56(1):116–124.
  6. Chaudhry AA, Warthan MM, Praiser RJ, Hood AF. Acquired acrodermatitis enteropathica secondary to alcoholism. Cutis. 2008;82(1):60–62.
  7. Van Wouwe JP. Clinical and laboratory diagnosis of acrodermatitis enteropathica. Eur J Pediatr. 1989;149(1):2–8.
  8. Gutiérrez-González E, Alvarez-Pérez A, Loureiro M, Sánchez-Aguilar D, Toribio J. Acrodermatitis enteropathica in a breast-fed infant. Actas Dermosifiliogr. 2012;103(2):170–172.
  9. Perafán-Riveros C, França LF, Alves AC, Sanches JA Jr. Acrodermatitis enteropathica: case report and review of the literature. Pediatr Dermatol. 2002;19(5):426–431.

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Last updated: 2019-07-11 21:52