Acrodermatitis enteropathica in three siblings

Karadağ, Ayşe Serap; Bilgili, Serap Güneş; Çalka, Ömer

doi:10.4103/0378-6323.107667

Cited by 6 publications

(3 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In our patients, zinc level was low for both cases, and this is similar to various cases reported. 6,8,9 However, normal zinc level was found in other cases. 10 In our case, AE was presented in a twin at the same time for both children and this probably reflects an underlying genetic predisposition for development of AE.…”

Section: Discussionmentioning

confidence: 91%

Acrodermatitis enteropathica in a pair of twins

Rashed

Shehri

Kaliyadan

2017

J Dermatol Case Rep

View full text Add to dashboard Cite

Background: Acrodermatitis enteropathica (AE) is a rare autosomal recessive metabolic disorder. First described by Brandt in 1936 and was named by Danbolt. A mutation in the SLC39A4 gene on chromosome 8 q24.3 is responsible for this disorder, which encodes zinc transporter Zip4. The diagnosis is made by the clinical presentation and histopathology and laboratory tests. In this case, we reported a twin presented with a typical rash and low zinc level. To our knowledge, very few cases reported as a twin with typical acrodermatitis enteropathica presentation.Main observations: Four months old twins both females, first children of a non-consanguineous marriage. The twins were born at term, caesarian section, with no complications. Presented with erythema, scaling, crusting and oozing over perioral, perianal areas, hands and feet of 2-3 week duration. The lesions started around the same time for both children with a history of intermittent diarrhea, and hair loss. There were no nail changes or neurological deficit or myopathy. There was a history of recent weaning from breast milk and now both children on formula feeds, ragi, fruits. There was no other significant history of other medical problems in the patients or in their family. On examination, erythema, scaling, crusting and oozing over perioral, perianal areas, hands and feet was seen. Minimal diffuse alopecia was noted. Nails were normal. No other abnormalities were observed. Clinical diagnosis of acrodermatitis enteropathica was considered and confirmed by low zinc levels (repeated plasma zinc levels were below 0.6 mcg/ml). The twins were managed with zinc supplementation 1 mg/kg/day. A significant improvement was seen within two weeks. Conclusions:Early diagnosis of acrodermatitis enteropathica is essential for preventing complications. We report a rare case of typical clinical presentation of the disease developing simultaneously in twins. (J Dermatol Case Rep.

show abstract

Section: Discussionmentioning

confidence: 91%

Acrodermatitis enteropathica in a pair of twins

Rashed

Shehri

Kaliyadan

2017

J Dermatol Case Rep

View full text Add to dashboard Cite

show abstract

“…Hasta tedavisiz kaldığında prognozu kötüleşir ve ölümle sonuçlanabilir (1,3). Konjenital AE prevalansı yaklaşık olarak 1/500,000 dir (4). Biz burada altı aylık tipik bir AE olgusunu bir çok farklı dermatozla karışabileceği için ve nadir görülmesi nedeniyle akılda tutulması amacıyla sunmayı uygun gördük.…”

Section: Introductionunclassified

“…Serum çinko düzeyinin 50 mg/dl altında olması AE göstergesidir ancak şart değildir. Laboratuvar testlerinin yararlı olmasına rağmen şüphelenilen olgularda çinko tedavisine alınan klinik yanıt tanı için altın standart kabul edilir (4). Sonuç olarak akrodermatitis enteropatika nadir görülen bir durumdur.…”

Section: Introductionunclassified