Journal of Pediatric Ophthalmology and Strabismus

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Bilateral Cataract in Acrodermatitis Enteropathica

Peter Racz, MD; Balint Kovacs, MD; Levente Varga, MD; Eva Ujilaki, MD; Elizabeth Zombai, MD; Susanna Karbuczky, MD

Abstract

Acrodermatitis enteropathica (AE) is a rare disease in early childhood and it ends in death if not treated. Its main symptoms are dermatitis, alopecia, recurrentdiarrhea anddevelopmental retardation.

The findings by Moynahan and Barnes2 may be regarded as significant, both in the classification of pathogenesis and in the treatment of AE. They pointed out a low level of serum zinc in one of their AE cases and, therefore, they applied a zinc treatment effectively. Since their report, several papers have been published on the successful treatment of the AE by this method.1'4'5''0'11 Zinc has become a life-saving medicine in curing this disease.

Eye symptoms blepharitis, photophobia, conjunctivitis, and, in one case, corneal opacities'" have been described. Cataract has never been reported to be a symptom of AE. Now, we have found a case with bilateral cataracts.

CASE REPORT

MG was born as a first child with 2900 gm body weight to young, healthy parents after a normal pregnancy. No hereditary disease had been detected in the family. After his birth, dermatitis occurred in the anogenital area. 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. In infancy, otitis, broncho-pneumonie, and sinusitis maxillaris became recurrent; later milder viral upper respiratory tract infections developed. Candida albicans was cultured in a specimen taken from the skin surface as well as from the stool. The secondary fungal and pyogenic infections could not be cured even with the most careful treatment despite the apparently normal cellular or humoral immunity. Enterocolitis characterized by watery stool showed significant improvement after Enteroseptol (Jodchloroxychinolinum), but the dermatitis persisted. It became obvious when the child was 8 months old that he was suffering from psychosomatic retardation caused by a diffuse and slowly developing brain damage. (Repeated EEG findings showed a diffusely damaged, retarded cerebral activity.) When he was 1 8 months old, morphological and histological examinations suggested acrodermatitis enteropathica. Peeling hyperemia with sharp outlines was seen involving the anogenital area, the lower abdominal area and the inner surface of thighs. The transverse fissurings of the oral comissures were also surrounded by peeling infiltration with sharp outlines. His hair was falling and rigid. Several pustulason the scalp and hyperemic peeling, ie, plaques covered with scurf on the occipital area and on the surface of the neck were found. The x-ray picture of the long bones was characteristic of metaphyseal dysostosis. Inborn errors of amino acid metabolism, mucopolysacharidosis as well as toxoplasmosis, cytomegalia, and rubella infection were ruled out. No galactosuria could be found. A lactose-loading test was normal.

Repeated liver-biopsies showed intact liver-tissue. The serum zinc level was 51j*g/100mi- On the basis of a torpid dermatitis resisting all treatment on the predilected areas, a diarrhea lasting for months, the low level of serum zinc, and the histological picture of the skin, a diagnosis of acrodermatitis enteropathica was established. Zinc-preparate (Zinc-sulphate) was administered perorally. Vomitingpreventedtheintake of the necessary amount of zinc, and this is assumed to be the cause of the therapeutic failure. When he was about 3 years old, a progression of skin changes was observed; hyperemic peeling psoriasiform plaques developed both on his face and on his thumbs. At last, when he was 3 years old, he died unexpectedly, as a result of developing bilateral focal pneumonia. Meanwhile a younger brother of his was born, in whom a diagnosis of acrodermatitis enteropathica, on the basis of dermatitis, diarrhea and a zinc level of 43 ¿g/100 ml, was established in another hospital, and who died when…

Acrodermatitis enteropathica (AE) is a rare disease in early childhood and it ends in death if not treated. Its main symptoms are dermatitis, alopecia, recurrentdiarrhea anddevelopmental retardation.

The findings by Moynahan and Barnes2 may be regarded as significant, both in the classification of pathogenesis and in the treatment of AE. They pointed out a low level of serum zinc in one of their AE cases and, therefore, they applied a zinc treatment effectively. Since their report, several papers have been published on the successful treatment of the AE by this method.1'4'5''0'11 Zinc has become a life-saving medicine in curing this disease.

Eye symptoms blepharitis, photophobia, conjunctivitis, and, in one case, corneal opacities'" have been described. Cataract has never been reported to be a symptom of AE. Now, we have found a case with bilateral cataracts.

CASE REPORT

MG was born as a first child with 2900 gm body weight to young, healthy parents after a normal pregnancy. No hereditary disease had been detected in the family. After his birth, dermatitis occurred in the anogenital area. 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. In infancy, otitis, broncho-pneumonie, and sinusitis maxillaris became recurrent; later milder viral upper respiratory tract infections developed. Candida albicans was cultured in a specimen taken from the skin surface as well as from the stool. The secondary fungal and pyogenic infections could not be cured even with the most careful treatment despite the apparently normal cellular or humoral immunity. Enterocolitis characterized by watery stool showed significant improvement after Enteroseptol (Jodchloroxychinolinum), but the dermatitis persisted. It became obvious when the child was 8 months old that he was suffering from psychosomatic retardation caused by a diffuse and slowly developing brain damage. (Repeated EEG findings showed a diffusely damaged, retarded cerebral activity.) When he was 1 8 months old, morphological and histological examinations suggested acrodermatitis enteropathica. Peeling hyperemia with sharp outlines was seen involving the anogenital area, the lower abdominal area and the inner surface of thighs. The transverse fissurings of the oral comissures were also surrounded by peeling infiltration with sharp outlines. His hair was falling and rigid. Several pustulason the scalp and hyperemic peeling, ie, plaques covered with scurf on the occipital area and on the surface of the neck were found. The x-ray picture of the long bones was characteristic of metaphyseal dysostosis. Inborn errors of amino acid metabolism, mucopolysacharidosis as well as toxoplasmosis, cytomegalia, and rubella infection were ruled out. No galactosuria could be found. A lactose-loading test was normal.

Repeated liver-biopsies showed intact liver-tissue. The serum zinc level was 51j*g/100mi- On the basis of a torpid dermatitis resisting all treatment on the predilected areas, a diarrhea lasting for months, the low level of serum zinc, and the histological picture of the skin, a diagnosis of acrodermatitis enteropathica was established. Zinc-preparate (Zinc-sulphate) was administered perorally. Vomitingpreventedtheintake of the necessary amount of zinc, and this is assumed to be the cause of the therapeutic failure. When he was about 3 years old, a progression of skin changes was observed; hyperemic peeling psoriasiform plaques developed both on his face and on his thumbs. At last, when he was 3 years old, he died unexpectedly, as a result of developing bilateral focal pneumonia. Meanwhile a younger brother of his was born, in whom a diagnosis of acrodermatitis enteropathica, on the basis of dermatitis, diarrhea and a zinc level of 43 ¿g/100 ml, was established in another hospital, and who died when he was 10 weeks old.

Ocular Examination

October 8, 1976. At the age of 8 months an unsteady horizontal movement of the right eye could be observed. Only the left eye had a light fixation. The lens and vitreous were transparent in both eyes. The fundus of the eyes was normal.

January 1 1. 1978. At the age of 3 years, one month before his death, the left eye was in a divergent squint position. Conjunctiva were hyperemic on both sides. Corneas were clear. In the lenses there were a number of bead-like subcapsular opacities of different sizes anteriorly and posteriorly. By a slit-lamp examination these opacities did not appear to be homogeneous; they had a relatively transparent core and a dense rim. This phenomenon was well-defined both in direct and in reflected light (Figs. 1 and 2).

Autopsy Results

The skin of the perineum and the medial area of the thighs was found livid red, rough, showing signs of desquamation. The lungs were more solid than normal owing to edema. The surface and the sections were spotted. The liver had fatty degeneration which was evident even macroscopically. The proximal epiphysis of the humerus bone was enlarged, but not deformed, in consequence to the hypertrophy of articular cartilage.

Histopathological Examination

The marked parakeratosis of the epidermis was obvious in the histological section of the involved skin area. Apartial loosening wasseenintheparakeratotic area. In one of the foci, necrotic tissue and a small number of inflammatory cells could be observed. Subepidermal hyperemia and, in some places, insignificant focal lymphocytic infiltration were seen. The examination of the lungs showed signs of desquamative pneumonitis. The light microscopic examination of the different intestinal sections showed no remarkable alterations. A diffuse, serious degree of fatty degeneration was found in the liver. The enlarged humerus epiphysis showed signs of typical chondromatosis, beside normal bone production.

Fig. 1 . Slit-lamp photograph of the left lens taken when the child was 3 years old. There are a number of bead-like opacities of different sizes anteriorly and posteriorly. These opacities do not appear to be homogeneous; they have a relatively transparent core and a dense brim. (The appearance of the right lens is practically the same.)

Fig. 1 . Slit-lamp photograph of the left lens taken when the child was 3 years old. There are a number of bead-like opacities of different sizes anteriorly and posteriorly. These opacities do not appear to be homogeneous; they have a relatively transparent core and a dense brim. (The appearance of the right lens is practically the same.)

Fig. 2. Slit-lamp photograph of the left lens by retroillumination. (The appearance of the right lens is practically the same.)

Fig. 2. Slit-lamp photograph of the left lens by retroillumination. (The appearance of the right lens is practically the same.)

DISCUSSION

In recent years, zinc has been in the limelight of medical research. There seems to be a relationship between the zinc-metabolism and the nutrition of skin and that of bones and testicles. Otherwise, zinc sulphate is used orally for treating skin ulcers and acceleration of wound healing. Eye and pancreas are especially rich in zinc. Several enzymes contain zinc such as alkaline phosphatase, carbonic anhydrase, lactate dehydrogenase, malate dehydrogenase, glutamate dehydrogenase, leucine aminopeptidase, glyceraldehyde phosphate dehydrogenase.7 The fact that the ocular lens contains lactate dehydrogenase, malate dehydrogenase, glyceraldehyde phosphate dehydrogenase, and leucine aminopeptidase suggests a significant role of zinc in the metabolism of lens. Different changes in the zinc concentration between normal and senile cataractous lenses have been reported i'h'K'y without an unambiguous conclusion and, therefore, we assume that our case might reveal a possible role of zinc deficiency in causing cataract.

SUMMARY

Bilateral cataract was found in a case of acrodermatitis enteropathica. A possible role of zinc deficiency in causing cataract might be assumed.

REFERENCES

1. Amador M, García-Miranda A, Lima LB, et al; Tratamiento de la acrodermatitis enteropatica con sulfato de zinc administrado por via oral. Rev Cubana Pediatr 48:103, 1976.

2. Moynahan EJ, Barnes PM: Zinc deficiency and a synthetic diet for lactose intolerance. Lancet 1:676, 1973.

3. Murata ?, Taura Y. Study of trace metallic elements in the lens. Ophthalmol Res 7:8, 1975.

4. Neider KH, Hambidge KM: Zinc therapy of acrodermatitis enteropathica. ? Engl J Med 292:879, 1975.

5. Portnoy B, Molokhia M: Acrodermatitis enteropathica treated by zinc. Br J Dermatol 91:701, 1974.

6. Racz P, Ordogh M: Investigations on trace elements in normal and senile cataractous lenses. Albrecht ? Graefes Arch klin exp Ophthalmol 204:67, 1977.

7. Riordan JF, Vallee BL: Structure and function of zinc metaltoenzymes. In Prasad AS, Oberleas D (eds): Trace Elements in Human Health and Disease. New York, Academic Press, 1976, ? 227.

8. Shlopak TV: Chemistry of the crystalline lens in normal and pathological state. II. Chemical elements in the blood and crystalline lenses of patients with cataract. Oftalmol Zh 17:347, 1962; Chem Abstracts 60:1 196f, 1964.

9. Swanson AA, Truesdale AW: Elemental analysis in normal and cataractous human lens tissue. Biochem Biophys Res Commun 45:1488, 1971.

10. Thyresson N: Acrodermatitis enteropathica. Report a case healed with zinc therapy. Acta Derm Venereol (Stockholm) 54:583, 1974.

1 1 . Torok E, Foldes Gy. Frank K, et al: Acrodermatitis enteropathica. Orvosi HetiJap 118:1461, 1977.

1 2. Wirsching L Jr: Eye symptoms in acrodermatitis enteropathica. Acta Ophthalmol (Kbh) 40:567, 1962.

10.3928/0191-3913-19790501-11

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