Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current Issue
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
Images in Dermatology
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters in Response to Previous Publication
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Media and news
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Images
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Retraction
Review
Review Article
Review Articles
Reviewers 2022
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Snippets
Special Article
Specialty Interface
Studies
Study Letter
Study Letters
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Systematic Review and Meta-Analysis
Systematic Reviews and Meta-analyses
Systematic Reviews and Meta-analysis
Tables
Technology
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
Therapy Letters
View Point
Viewpoint
What’s new in Dermatology
Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current Issue
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
Images in Dermatology
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters in Response to Previous Publication
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Media and news
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Images
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Retraction
Review
Review Article
Review Articles
Reviewers 2022
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Snippets
Special Article
Specialty Interface
Studies
Study Letter
Study Letters
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Systematic Review and Meta-Analysis
Systematic Reviews and Meta-analyses
Systematic Reviews and Meta-analysis
Tables
Technology
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
Therapy Letters
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF

Translate this page into:

Net letter
2013:79:2;268-268
doi: 10.4103/0378-6323.107667

Acrodermatitis enteropathica in three siblings

Ayse Serap Karadag1 , Serap Gunes Bilgili2 , Omer Calka2
1 Department of Dermatology, Istanbul Medeniyet University Faculty of Medicine, Goztepe Research and Training Hospital, Istanbul, Turkey
2 Department of Dermatology, Yuzuncu yil University, Faculty of Medicine, Van, Turkey

Correspondence Address:
Ayse Serap Karadag
Department of Dermatology, Istanbul Medeniyet University Faculty of Medicine, Goztepe Research and Training Hospital, Istanbul
Turkey
How to cite this article:
Karadag AS, Bilgili SG, Calka O. Acrodermatitis enteropathica in three siblings. Indian J Dermatol Venereol Leprol 2013;79:268
Copyright: (C)2013 Indian Journal of Dermatology, Venereology, and Leprology

Sir,

Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder and occurs as a result of severe zinc deficiency in infants. It is caused by abnormal zinc absorption from the intestine. [1] Here, we reported three siblings with AE presenting with various degrees of skin lesions.

Case 1: A 12-year-old girl was admitted to our clinic for recurrent, erythtematous, scaly lesions on the face, arm, trunk, and perianal region. She had developed several episodes of lesions since the age of one. Hair loss and mouth soreness were accompanied with the lesions. The duration of lesions usually lasted for 10 days and healed without scar. The dermatological examination showed erythematous, xerotic, plaque-like, yellow-brown, dry, eczematous lesions in the perioral region [Figure - 1]a-b. The laboratory investigation showed low serum zinc level 66 μg/dl (N: 70-150 μg/dl)), and elevated alkaline 24 phosphates (776 U/l (N: 0-270 U/l)).

Figure 1: (a) Eczematous, erythematous lesions of perioral region of Case 1 (b) Appearance of facial lesions of Case 1-3 (c) Appearance post-treatment of Case 1-3

Case 2: A 6-year-old girl, sister of the Case 1 patient, presented with similar lesions localizing on her hands, arms, and body. She had had these lesions since she was aged 1 year. The lesions were accompanied with sore mouth and hair loss. Dermatological examination showed eroded and yellow-brown dry patches of plaques on the erythematous layer on the dorsum of the hand, perioral region, and inguinal region [Figure - 1]b and [Figure - 2]a.The laboratory tests showed low zinc (66.5 μg/dl) and elevated alkaline phosphatase level (428 U/l).

Figure 2: (a) Eczematous, erythematous lesions of perianal, intertriginous region of Case 2 (b) Appearance of perianal region post-treatment of Case 2

Case 3: A 3-year-old patient, brother of the Case 1 and 2 patients, presented with similar lesions from time to time. He had mild lesions in the perioral region. Histopathological examination of the lesions taken from the perianal region of case 2 showed parakeratosis associated with hypogranulosis, scattered dyskeratotic keratinocytes in the epidermis, and vacuolar degeneration of the basal layer. The findings were consistent with AE.

The patients′ parents were second-degree relatives (cousins). They had 5 siblings. The 3 patient were not initially examined by a dermatologist, but their primary care physician started them on a zinc treatment. Their lesions healed more quickly with zinc treatment so their family gave them zinc capsule whenever they developed new lesions. These patients (Cases 1-3) were treated with oral zinc sulfate capsule 50 mg/day and were instructed a life-long zinc treatment. The lesions disappeared within 2 weeks following the zinc treatment [Figure - 1]c and [Figure - 2]b.

AE can be acquired or congenital, and the prevalence of congenital AE is approximately 1 in 500,000 children. [2] In congenital AE, active zinc transport across the duodenal mucosa is defective, causing malabsorption and impaired uptake mechanism in the jejunal mucosa. The low zinc binding capacity of duodenal secretion suggested a defect in a transport facilitating ligand. In untreated AE cases, dietary zinc is not available for metabolism, and growth and whole body zinc stores are depleted; their tissue zinc concentration is low, zinc-dependent enzymes are inactive, and cell membranes are less stable. [3] In congenital forms, the AE gene, SLC39A43, is responsible for encoding the Zip4 zinc transporter. [1] The lesions in infants usually appear within days after birth in bottle-fed infants or after weaning from breast milk. However, infants on breastfeeding can still develop clinical zinc deficiency. [2] In our cases, there were no lesions during the breast-feeding period, and the lesions appeared at around the age of one and after staring additional food.

The reason of acquired zinc deficiency in children is prematurity, parenteral feeding, malnourishment, or cystic fibrosis. [2],[4] We assumed that our patients had congenital AE due to early onset of the lesions, no acquired additional diseases, and positive family history. However, we could not perform any further investigation to detect the exact mechanism of zinc malabsorption.

AE is characterized by a triad of acral and periorificial dermatitis, diarrhea, and alopecia; however, all three features are only present in around 20% of the cases. [1] The cutaneous lesion is usually the first sign of AE. AE presents as an erythematous, scaly, crusted, psoriasiform, eczematous, or vesiculobullous eruption around the body orifices on the extensor surfaces of major joints, acral sites, and the scalp. [1],[5] In mild hypozincemia, "scald like" erythema and lack of inflammation are the main features of the lesions. The lesions are accompanied with decreased hair and nail growth. [1],[4]

The diagnosis of AE can be made based on the clinical, histopathological findings, and laboratory abnormalities. A serum zinc level <50 mg/dl is indicative of AE, but not mandatory. AE can be seen in patients with normal zinc level. [4] Zinc-dependent enzymes such as alkaline phosphatase can be decreased. [2],[5] In our cases, zinc level was decreased and alkaline phosphates were elevated. Although laboratory tests are beneficial for diagnosis, zinc treatment responsiveness in suspected cases is the gold standard approach for the diagnosis. There is no clinical correlation between serum zinc level and severity of the disease. [1],[2] The AE patients require life-long zinc supplementation therapy to prevent further lesions. [1],[4]

References
1.
Maverakis E, Fung MA, Lynch PJ, Draznin M, Michael DJ, Ruben B, et al. Acrodermatitis enteropathica and an overview of zinc metabolism. J Am Acad Dermatol 2007;56:116-24.
[Google Scholar]
2.
Lee SY, Jung YJ, Oh TH, Choi EH. A case of acrodermatitis enteropathica localized on the hands and feet with a normal serum zinc level. Ann Dermatol 2011;23:S88-90.
[Google Scholar]
3.
Van Wouwe JP. Clinical and laboratory diagnosis of acrodermatitis enteropathica. Eur J Pediatr 1989;149:2-8.
[Google Scholar]
4.
Changela A, Javaiya H, Changela K, Davanos E, Rickenbach K. Acrodermatitis enteropathica during adequate enteral nutrition. JPEN J Parenter Enteral Nutr 2012;36:235-7.
[Google Scholar]
5.
Jung AG, Mathony UA, Behre B, Küry S, Schmitt S, Zouboulis CC, et al. Acrodermatitis enteropathica: An uncommon differential diagnosis in childhood - first description of a new sequence variant. J Dtsch Dermatol Ges 2011;9:999-1002.
[Google Scholar]

Fulltext Views
1,754

PDF downloads
841
Show Sections