Selim GÖKÇE, Ayşe KILIÇ, Durmaz Özlem SÜOĞLU, Ayper SOMER, Günay SANER, Semra SÖKÜCÜ

Akrodermatitis enteropatika: Yeni milenyumda eski bir hastalık

Primer akrodermatitis enteropatika bağırsaklardan çinko emiliminin bozuk olduğu, ender görülen, otozomal resesif kalıtılan bir hastalıktır. Hastalarda iştahsızlık, ishal ve ağır büyüme-gelişme geriliği, ayak, el, perineal ve oral bölgelere lokalize dermatit ve total alopesi görülür. Serum çinko ve çinko bağımlı metalloenzim olan alkalen fosfataz düzeyleri düşüklüktür. Tanıda gecikme ölüme yol açabilir. Tipik klinik ve laboratuvar bulguları ile geç yaşta tanı almış bir akrodermatitis enteropatika vakası sunulmaktadır. Aile öyküsünden hastamızın benzer klinik bulguları olan büyük erkek kardeşinin 18 aylıkken kaybedildiği öğrenilmiştir. Sunumdaki amacımız, bu ender görülen hastalığı dermatolog ve pediatristlere yeniden hatırlatmak ve erken tanı ve tedavinin önemini vurgulamaktır.

Anahtar Kelimeler:

Çinko, Akrodermatit, Çocuk

Acrodermatitis enteropathica: An old disease in new millenium

Primary acrodermatitis enteropathica is a rare, autosomal recessive disorder of impaired intestinal absorption of zinc. The patients generally present with anorexia, diarrhea, and failure to thrive. The dermatitis located on the hand, feet, perirectal and oral regions and the alopecia of the scalp and face are striking features. Laboratory examination reveals low levels of serum zinc and alkaline phosphatase, a zinc dependent metalloenzyme. When diagnosed late, it may result in death. Here, we present a case of acrodermatitis enteropathica diagnosed lately with characteristic clinical and laboratory features. The family history revealed that his older brother with similar clinical features had died at 18 months of age. Our aim in this report is to remind this rare disorder to both pediatricians and dermatologists and emphasize the importance of early diagnosis and treatment.

Keywords:

Zinc, Acrodermatitis, Child,

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1.Martin MG, Wright EM. Congenital intestinal transport defects. In: Walker WA, Goulet O, Kleinman RE, Sherman PM, Shneider BL, Sanderson IR (eds). Pediatric Gastrointestinal Disease 2004, 4th edition. BC Decker Inc, Ontario: 898-922.
2.Wang K, Pugh EW, Griffen S, et al. Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3. Am J Hum Genet 2001; 68:1055-60.
3.Wang K, Zhou B, Kuo YM, Zemansky J, Gitschier J. A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. Am J Hum Genet 2002; 71:66-73.
4.Cameron JD, McClain CJ. Ocular histopathology of acrodermatitis enteropathica. Br J Ophthalmol 1986; 70:662-7.
5.Matta CS, Felker GV, ide CH. Eye manifestations in acrodermatitis enteropathica. Arch Ophthalmol 1975; 93:140-2.
6.Shankar AH, Prasad AS. Zinc and immune function: the biological basis of altered resistance to infection. Am J Clin Nuti 1998; 68:447-63.
7.Hambidge M. Human zinc deficiency. J Nutr 2000; 130: 1344-9.
8.Sicherer SH, Lederman HM. An erythematous rash, diarrhea, failure to thrive, and lymphadenopathy in a 3-month-old girl. Ann Allergy Asthma Immunol 1997; 78:253-8.
9.Zsolway K, Harrison A, Honig PJ. Diaper rash in a young infant. Pediatr Case Rev 2002; 2:220-5.
10.Zimmerman AW, Hambidge KM, Lepow ML, Greenberg RD, Stover ML, Casey CE. Acrodermatitis in breast-fed premature infants: evidence for a defect of mammary zinc secretion. Pediatrics 1982; 69:176-83.
11.Roberts LJ, Shadwick CF, Bergstresser PR. Zinc deficiency in two full-term breast-fed infants. J Am Acad Dermatol 1987; 16(2 Pt l):301-4.
12.Lee MG, Hong KT, Kim JJ. Transient symptomatic zinc deficiency in a full-term breast-fed infant. J Am Acad Dermatol 1990; 23(2 Pt 2):375-9.
13.Woodall TG. Acrodermatitis Enteropathica. http://www. emedicine.com/derm/topic5.htm.