Generic selectors
Exact matches only
Search in title
Search in content
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 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
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 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
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obervation Letter
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
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Special Article
Specialty Interface
Studies
Study Letter
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
Tables
Technology
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF
Case Reports
2005:71:5;348-350
doi: 10.4103/0378-6323.16788
PMID: 16394462

Kindler syndrome

PK Kaviarasan1 , P VS Prasad1 , Shradda1 , P Viswanathan2
1 Departments of Dermatology Venereology and Leprosy, Rajah Muthiah Medical College and Hospital, Annamalai University, India
2 Departments of Pathology, Rajah Muthiah Medical College and Hospital, Annamalai University, India

Correspondence Address:
P VS Prasad
Plot no 88, AUTA Nagar, Sivapuri Post, Chidambaram-608002, Tamilnadu
India
How to cite this article:
Kaviarasan P K, Prasad P V, S, Viswanathan P. Kindler syndrome. Indian J Dermatol Venereol Leprol 2005;71:348-350
Copyright: (C)2005 Indian Journal of Dermatology, Venereology, and Leprology

Abstract

Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.
Keywords: Kindler syndrome, Poikiloderma, Kindler-Weary syndrome

INTRODUCTION

Kindler syndrome is a rare hereditary disorder, which was first described in a 14-year-old girl by Kindler in 1954.[1] The patient had unusual blistering on the hands, arms, feet and legs and later developed photosensitivity and pigmentary changes. More than 120 cases have been reported since the original report by Kindler. Recently, 26 cases have been studied and reported,[2] which is the largest series of this syndrome. Clinical overlap with hereditary acrokeratotic poikiloderma and dystrophic epidermolysis bullosa may cause confusion.[3] Apart from the skin changes, changes in the oral and conjunctival mucosa, phimosis and radiological changes, namely a dome-shaped skull (turricephaly), rib and mandibular abnormalities have been reported.[4] The genetic defect of Kindler syndrome has been identified on the short arm of chromosome 20. The gene KIND I encodes a novel protein kindlin-I. This protein is involved in connecting the actin-cytoskeleton to the extracellular matrix. Histopathological examination shows features of poikiloderma like epidermal atrophy, hyper- and hypo-pigmentation and telangiectasia with hyperkeratosis, Areas of cleavage at or near the dermoepidermal junction may be present.[5],[6] We report a case of Kindler syndrome with phimosis as a complication.

CASE REPORT

An 18-year-old boy presented with a history of hypo-pigmented patches and photosensitivity since childhood. There was a history of acral blisters, which started on the fifth day of the neonatal period and persisted till 5 years of age. The patient had a history of recurrent respiratory infections and oral ulcers with halitosis. He also noticed generalized loss of sweating. He was born to consanguineous parents. His mother had vitiligo.

On clinical examination, the patient weighed 25 kg and was short statured. His sexual maturity was in stage II instead of stage the IV, normal for his age. His IQ was normal. Cutaneous examination revealed multiple hypopigmented and a few hyperpigmented patches over the face [Figure - 1], neck, trunk and limbs. The trunk showed telangiectasia. The palms showed atrophic skin with loss of palmar creases [Figure - 2]. The dorsal aspect of the hands [Figure - 3] and feet showed atrophic scarring with shiny cigarette paper-like wrinkling. Hyperkeratotic plaques were seen on the flexures [Figure - 4]. The scalp hair were normal in color and growth pattern. Genital examination showed phimosis and scanty pubic hair. Oral mucosa revealed leukoplakia with few oral ulcers.

Radiological screening revealed delayed epiphyseal fusion. Histopathological examination from a plaque revealed hyperkeratosis with flattened rete ridges and keratotic plugging. The dermis showed a lymphohistiocytic infiltrate in addition to melanophages.

DISCUSSION

Our patient presented with acral blisters in the neonatal period and childhood, diffuse poikiloderma, skin fragility and atrophic changes (cigarette paper-like wrinkled appearance of the skin), which were more prominent on the sun-exposed areas. Leukokeratosis of the oral mucosa and phimosis were additional features. The histopathology was consistent with poikilodermatous changes. The diagnosis of Kindler syndrome was made on the basis of these findings.

Siegel et al have mapped the gene locus to band 20 p 12.3 by using linkage and homozygosity analysis in an isolated cohort of patients with Kindler syndrome.[7] Loss-of-function mutations were identified in the candidate gene KIND I. This gene encodes a protein, Kindlin I, which plays a regulatory role in inhibiting over-secretion of basement membrane components by basal keratinocytes at the dermo-epidermal junction. Kindler syndrome is suggested as the first skin fragility disorder caused by a defect in the actin-extracellular matrix (ECM) linkage rather than the keratin-ECM linkage.

This syndrome has to be differentiated from Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Congenital bullous disorders may be differentiated by the spontaneous improvement of photosensitivity and blistering followed by development of poikiloderma and cutaneous atrophy seen in Kindler syndrome. Bloom syndrome shows telangiectasia, photosensitivity and erythema of the face and other sun exposed areas but not true poikiloderma. Short stature, recurrent infections and increased frequency of hematological malignancies are also present. Patients with Cockayne syndrome develop photo-distributed erythema, atrophy and hyperpigmentation. Other features are dwarfism, progressive pigmented retinopathy, deafness and bird-like facies, which are absent in Kindler syndrome. Rothmund-Thomson syndrome shows poikiloderma and photosensitivity in addition to sparse hair, hypogonadism and cataracts which are not seen in Kindler syndrome. Photosensitivity and the poikilodermatous changes found in xeroderma pigmentosum are found in patients with Kindler syndrome but acral bullae are not seen. In addition, patients with xeroderma pigmentosum experience early onset skin cancers and multiple neurological abnormalities. Dyskeratosis congenita presents with a triad of reticulated hyperpigmentation, nail dystrophy and leukoplakia. Pigmentary changes are not truly poikilodermatous and bullae are not prominent. Hereditary sclerosing poikiloderma of Weary is an autosomal dominant disorder characterized by progressive poikiloderma in flexural areas, sclerotic bands, poor dentition and calcinosis. Bullae and photosensitivity are not present.

Treatment is mainly symptomatic with a focus on prevention of sundamage. Sun avoidance and photo-protection may delay the onset of poikiloderma. Complications range from secondary infections, urethral and esophageal stenosis, conjunctival scarring and periodontal disease. Patients may have a normal lifespan.

Our patient presented with the classical features of Kindler syndrome. It was interesting to note that the patient had phimosis and there was a family history of vitiligo. Thappa et al reported Kindler syndrome in a 15-year-old Indian boy.[8] This case has been reported for its rarity.

References
1.
Kindler T. Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Dermatol 1954;66:104-11.
[Google Scholar]
2.
Penagos HG, Jaen M, Sancho MT, Sabario MR, Fallas VG, Siegel DH, et al. Kindler syndrome in native Americans from Panama. A report of 26 cases. Arch Dermatol 2004;140:939-44.
[Google Scholar]
3.
Ashton GH. Kindler syndrome. Clini Exp Dermatol 2004:29:116-21.
[Google Scholar]
4.
Sharma RC, Mahajan V, Sharma NL, Sharma AK. Kindler syndrome. Int J Dermatol 2003;42:727-32.
[Google Scholar]
5.
Hovnanian A, Blanchet-Bardon C, de Prost Y. Poikiloderma of Theresa Kindler: report of a case with ultra structural study and review of literature. Pediatr Dermatol 1989;6:82-90.
[Google Scholar]
6.
Lanschuetzer CM, Muss WH, Emberger M, Pohla-Gubo G, Klausegger A, Bauer JW, et al. Gene symbol: Kind 1 disease: Kindler syndrome. Hum Genet 2004;115:175.
[Google Scholar]
7.
Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, et al. Loss of Kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular matrix linker protein Unc-112, causes Kindler syndrome. Am J Hum Genet 2003;73:174-87.
[Google Scholar]
8.
Thappa DM, Jeevan Kumar B, Karthikeyan K, Sethuraman G. Kindler syndrome: A case report. Indian J Pediatr Dermatol 2000;3:19-23.
[Google Scholar]

Fulltext Views
388

PDF downloads
42
Show Sections