E-IJD® - CASE REPORT
|Year : 2022 | Volume
| Issue : 3 | Page : 314
|A case of acrodermatitis enteropathica mimicking mutilating palmoplantar keratoderma
Binodini Behera1, Liza Mohapatra2, Bharati Sahu3, Monali Patnaik4
1 Department of Dermatology, Pandit Raghunath Murmu Medical College and Hospital, Baripada, Odisha, India
2 Department of Dermatology, IMS and SUM Hospital, Bhubaneswar, Odisha, India
3 Consultant Niki Skin Care, Bhubaneswar, Odisha, India
4 Consultant Dermatologist, Tattva Skin and laser Clinic, Bhubaneswar, Odisha, India
|Date of Web Publication||22-Sep-2022|
Assistant Professor, Department of Dermatology, IMS and SUM Hospital, Bhubaneswar, Odisha
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Acrodermatitis enteropathica (AE) is a rare inherited form of defective zinc absorption usually manifesting as eczematous and erosive dermatitis preferably over periorificial and acral areas which at times mimics various hereditary palmoplantar keratodermas (PPK). We reported a 6-year-old boy who presented with hard plaques over both palm and sole, and periorificial areas, and flexion attitude of digits without any history of diarrhea and prolonged illness. The patient improved dramatically with zinc supplementation including correction of flexion deformities of the fingers. There was improvement of serum alkaline phosphatase level within 3 months. The lesions reappeared again whenever there was discontinuation of therapy for few weeks, thus confirming it to be zinc deficiency dermatoses. This kind of manifestation has rarely been described in earlier literature.
Keywords: Acrodermatitis enteropathica, palmoplantar keratoderma, serum zinc levels
|How to cite this article:|
Behera B, Mohapatra L, Sahu B, Patnaik M. A case of acrodermatitis enteropathica mimicking mutilating palmoplantar keratoderma. Indian J Dermatol 2022;67:314
|How to cite this URL:|
Behera B, Mohapatra L, Sahu B, Patnaik M. A case of acrodermatitis enteropathica mimicking mutilating palmoplantar keratoderma. Indian J Dermatol [serial online] 2022 [cited 2022 Sep 29];67:314. Available from: https://www.e-ijd.org/text.asp?2022/67/3/314/356725
What was known: Acrodermatitis enteropathica (AE) is a rare disorder caused by impaired absorption of zinc. It is characterized by acral and periorificial dermatitis, alopecia and diarrhea.
| Introduction|| |
Acrodermatitis enteropathica (AE) occurs due to a defect in an intestinal zinc transporter, the human ZIP4 protein encoded on SCL39A4 gene, the mutation of which prevents appropriate enteral zinc absorption.
The classical features of AE include eczematous and erosive dermatitis affecting mostly periorificial and acral areas with diarrhea, alopecia, and irritability. Rarely has it been described in the differential diagnoses of mutilating type of PPKs such as Olmsted syndrome., But the kind of case described here was not found anywhere in the literature to the best of our knowledge.
| Case Report|| |
A 6-year-old boy was brought by his parents with complains of gradual hardening and thickening of both palm and sole with thinning and curling of scalp hairs since four and half years. Earlier treatment in the local hospital was unresponsive. His only sibling, an 11-year-old sister was healthy. The boy was born at term after uneventful pregnancy and delivery. There was no history of any consanguineous marriage in the family. The initial lesions had started at one-and-a-half-year of age, which was about 2 months after weaning, and progressed thereafter causing difficulty in walking and inability of holding objects.
On examination, there were thick, hard, hyperpigmented, large, well-defined plaques looking keratotic and necrotic over both palm and sole, and on extensor surface of the knees. Fissures were present at the margins of the plaques and over sole; these were associated with bit of oozing at few places. The fingers had a flexion attitude with inability to extend and hold objects. The digits appeared conically tapered and necrotic towards the distal end. The patient's nails were discolored and atrophied. Few follicular keratotic hard papules were present on both knees. Scalp had sparse, wooly, lusterless and thin hairs. Mildly keratotic, thick, hard plaques with fissuring were present on perioral and periorbital areas [Figure 1]. He was of thin build and irritable. No systemic abnormality was noted. Peripheral pulses were normal. Intelligence quotient was normal. There was no history of any chronic diarrhea or altered bowel habits.
|Figure 1: a) Periorificial erythematous well-defined plaques with fissuring and crusting. b, c) Thick, hyperpigmented, well-defined plaques over palm, sole, and extensor surface of knees. d) Sparse, wooly, lusterless and thinned hairs. e, f) Flexion attitude of fingers and conically tapered digits|
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Upon investigating, routine tests including a complete blood count were normal and serology for human immunodeficiency and hepatitis viruses were negative. Serum alkaline phosphatase (ALP) was very low (100 IU/L) for his age (normal: 700-1000 IU/ml). Biopsy was taken from palm and sole which came out to be non-specific dermatitis. Serum zinc level was low (37 μg/dL) (normal: 70–100 μg/dL).
Considering the possibility of mutilating PPKs like Olmsted syndrome, Vohwinkel syndrome, Mal de Meleda along with coexisting zinc deficiency because of presence of periorificial and acral keratotic fissured plaques with low serum zinc levels, a trial with zinc supplementation at 2 mg per kg-body-weight was started.
On the follow-up visit after a week, irritability had subsided. After one month, periorificial plaques were significantly cleared up. The hard, thick, hyperpigmented plaques had fallen off from the palm and sole, and the underlying skin was slightly thick, dry and erythematous. Flexion attitude of digits partly improved and his nails looked cleaner. Keratotic papules over knees had subsided [Figure 2]. On subsequent follow up, the lesions had completely cleared and the skin over the palm and sole was normal [Figure 3] and [Figure 4]. Flexion attitude was absent and density of hair had increased. Nails, too, looked normal. Serum ALP level had raised to 230 IU/ml.
|Figure 2: First follow-up - Periorificial lesions and hyperkeratotic plaques have cleared with mildly erythematous and dry underlying skin. Flexion attitude of digits partly improved|
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|Figure 3: Second follow-up - Plaques significantly cleared and flexion attitude improved|
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|Figure 4: Complete disappearance of keratotic plaques and periorificial lesions with normal skin over palm and sole with increased hair density|
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Patient was regularly followed up for one year. Whenever, he discontinued medication for couple of weeks (due to financial constraints), the lesions started to reappear for which he was advised to continue zinc (2 mg/kg-body-wight per day) therapy orally daily along with monitoring of serum zinc levels every 4 to 5 months.
| Discussion|| |
AE, also known as Brandt syndrome or Danbolt-Closs syndrome, is a rare autosomal recessive disorder of zinc absorption. It usually manifests as eczematous or erosive dermatitis affecting mostly periorificial and acral areas associated with diarrhea, alopecia, and irritability during weaning period of infancy. Several studies have tried to explain the causes of this association.,, In a review study of 179 cases, J. P. Van Wouwe observed that cardinal sign of diarrhea can be absent in children of more than 2 years in about two-third cases, which explains absence of diarrhea in our case.
In our case, there was no history of diarrhea but mild irritability was present which improved dramatically within one week of starting zinc supplementation. The thick, hard, hyperpigmented, large, well-defined plaques over the palm, sole, and extensor surface of both knees along with a flexion attitude of the digits, nail dystrophy and sparse wooly hair over scalp initially led us to think of some mutilating palmoplantar keratodermas (PPKs) such as Olmsted, Vohwinkel or Mal de Meleda syndromes.,,
Of these, Olmsted syndrome is a rare disorder manifesting as mutilating PPK and develops just after birth. Our child developed the lesions at one-and-a-half years of age with fissuring and oozing. Vohwinkel syndrome is an autosomal dominant disorder characterized by PPK, starfish keratoses on hands and sensorineural deafness. Mal de Meleda presents as transgradient PPK with sharp margins, perioral erythema and scleroatrophy. Both don't have tendency for resolution. All these disorders were ruled out due to satisfactory response to zinc therapy.
The patient improved completely within 2–3 months of zinc supplementation. But lesions had a tendency to relapse in the form of erythematous plaques whenever there was discontinuation of therapy, and improve again with zinc supplementation, thus proving it to be a constant zinc deficiency state.
Checking the serum zinc level and a trial with oral zinc supplementation helped us to reach at a definitive diagnosis. Literatures have also advocated for a trial with zinc supplementation before confirming a case of PPK. Serum zinc estimation may or may not be helpful in establishing the diagnosis of zinc deficiency or AE. Its serum levels can be within normal limits despite its deficiency as serum zinc levels do not necessarily reflect cellular zinc status because of a tight homeostatic control mechanism., Estimating serum alkaline phosphatase (a zinc-dependent enzyme) level is a cheaper alternative. It can aid in the diagnosis of AE and is also used to see response to treatment. Its level was seen to rise with zinc supplementation in our case. Patients receiving prolonged oral zinc supplementation are prone to develop hypocupremia as a consequence of longstanding hyperzincemia which results in neutropenia and immune dysfunction. So patients on long-term zinc therapy should be monitored periodically with plasma zinc levels, complete hemogram with erythrocyte indices, leukocyte differential count and serum copper level.
This report highlights the need for alertness amongst physicians as the deficiency dermatoses can present variably, closely mimicking mutilating PPKs.
What's new: - Mutilating form of palmoplantar keratoderma is a rare presentation of acrodermatitis enteropathica.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]
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