|Year : 2021 | Volume
| Issue : 1 | Page : 52-55
Kindler syndrome: A rare case report
Shweta Satyanarayan Kandikatla, Shylaja Someshwar, Pranjal Ahire
Department of Dermatology, Venerology and Leprology, MGM Medical College and Hospital, Navi Mumbai, Maharashtra, India
|Date of Submission||22-Feb-2021|
|Date of Acceptance||24-May-2021|
|Date of Web Publication||03-Sep-2021|
Dr. Shylaja Someshwar
OPD NO-220, MGM Medical College and Hospital, Kamothe, Navi Mumbai, Maharashtra
Source of Support: None, Conflict of Interest: None
Kindler syndrome is a very rare genodermatosis with an autosomal recessive pattern and about 250 cases have been reported worldwide. The mutant gene is Fermitin family homolog 1 gene (KIND1), located on chromosome 20p12.3, which encodes for focal adhesion protein “Fermitin family homologue 1 protein” or Kindlin-1. It is characterized clinically by acral blistering in infancy, photosensitivity improving with age, progressive poikiloderma, cutaneous atrophy, dental problems, and various forms of mucosal involvement. Histologically, it is characterized by flattened and atrophic epidermis, edematous dermoepidermal junction, vacuolar degeneration of basal cells, pigmentary incontinence, and sparse perivascular lymphocytic infiltrate. Here, we report a case with classic skin manifestations in a 13-year-old female without photosensitivity.
Keywords: Caenorhabditis, kindler, poikiloderma
|How to cite this article:|
Kandikatla SS, Someshwar S, Ahire P. Kindler syndrome: A rare case report. Muller J Med Sci Res 2021;12:52-5
| Introduction|| |
Kindler syndrome (KS) is a rare autosomal recessive genodermatosis. Recently, the exact genetic defect has been identified as a loss of function mutation of kindlin-1, a human homolog of Caenorhabditis elegant actin-extracellular matrix linker protein UNC-112, located on chromosome 20p 13.2. In 1954, Theresa kindler first described a 14-year-old girl with acral blistering and photosensitivity during infancy, followed later by progressive poikiloderma and atrophy. More than 250 cases have been reported worldwide; the largest being a cluster of 26 patients within a tribe in the Bocas del Toro province on the North-Western Caribbean coast of Panama.
The case is being reported because of the rarity of this condition and to consider in the differential diagnosis of disorders that may cause similar changes.
| Case Report|| |
A 13-year-old, female, born of non-consanguineous marriage was brought to the OPD by her father with multiple hypo and hyper-pigmented lesions along with dry scaly skin all over the body since birth. These lesions aggravated for two years of age and have progressively become more darker and scaly. Her father gave a history of acral blisters after birth which resolved spontaneously within a few months without scarring. She had two siblings who were unaffected.
On clinical examination, she had poikilodermatous changes all over her body with atrophy, reticulate pigmentation and few telangiectasias, more visible on the face and V area of the neck. [Figure 1] “Cigarette-paper” like wrinkled appearance of the skin on dorsa of hands and feet was seen [Figure 2] and [Figure 3]. The palms and soles showed glazed appearance with reduced dermatoglyphics along with webbing of some interdigital spaces [Figure 4].
Erosive lesion along with minor bleeding is seen on the right buccal mucosa. The right premolar and molar are fractured due to carious lesions. Poor oral hygiene with premature loss of teeth and huge deposits of calculus seen on the lingual surfaces of the premolar and molar region. Tongue appears to be pale and anemic. [Figure 5]. She did not attain her menarche, weighed 13 kg, and was short statured. The intelligence quotient was normal. Radiological examination revealed delayed epiphyseal fusion of the wrist joint and long bones. Systemic examination was unremarkable. Urine and stool porphyrin levels were not significant. Punch biopsy showed features of poikiloderma such as epidermal atrophy, edematous papillary dermis with melanin incontinence, and chronic perivascular lymphocytic infiltrate [Figure 6].
|Figure 5: Erosive ulcer, deposits of calculus on teeth with poor oral hygiene|
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A clinical diagnosis of KS was made based on the criteria by Angelo-Fischer et al. Our patient fulfilled four major criteria.
Immunofluorescence, genetic mapping, and electron microscopy could not be done as the patient could not afford. Parents were counseled and symptomatic treatment was given along with the use of sunscreens.
| Discussion|| |
KS is a rare genodermatosis characterized by congenital acral skin blistering, photosensitivity, progressive poikiloderma, and diffuse atrophy. It results from mutations in the Fermitin family homolog 1 gene, located on chromosome 20p12.3 which encodes for kindlin-1, a component of focal adhesion that connect actin filaments basal keratinocytes to the underlying extracellular matrix. Kindlin 1 has a role in regulating cutaneous epithelial stem cell homeostasis, with loss of Kindlin-1 leading to increased risk of skin cancer and atrophy.
Clinical features include:
- Blistering during infancy is most prominent on the hands and feet which regress with age
- Photosensitivity manifesting as an increased susceptibility to sunburn which improves over time
- Reticulated hyperpigmentation and telangiectasias begin to develop in sun-exposed areas during childhood and after puberty can spread to sun-protected areas
- Poikiloderma which persists and becomes more prominent later in life
- ”Cigarette-paper” wrinkling is seen on dorsal aspects of the hands and feet
- Chronic gingivitis, dental caries, periodontitis, and leukokeratosis of buccal mucosa are seen in adulthood
- Mucosal involvement can result in oesophageal strictures, anal stenosis, meatal stenosis, ectropion, and conjunctival scarring
- Less common features are ichthyosis, webbing of spaces, palmoplantar hyperkeratosis, milia, pseudoainhum, and nail dystrophy
- Increased risk of squamous cell carcinoma of the lip, oral mucosa as well as acral skin.
Diagnosis is mostly clinical. Histopathology shows epidermal atrophy, variable epidermal melanin, dermal melanophages, and dermal capillary dilatation.
Electron microscopy shows single or multiple cleavage planes at the level of basement membrane and reduplication of lamina densa. Immunostaining with anti-kindlin-1 antibodies demonstrates a marked reduction or absence of this protein.
It is important to differentiate this syndrome from other similar conditions.
- The decreased tendency to form blisters with the appearance of poikiloderma rules out epidermolysis bullosa
- Bloom syndrome shows telangiectasia, photosensitivity, and erythema of the face, short stature, and increased predisposition to malignancy
- Cockayne syndrome shows photodistributed erythema, atrophy, and hyperpigmentation, dwarfism, deafness, and bird-like facies
- RothmundThomson Syndrome shows poikiloderma and photosensitivity with sparse hair, cataracts, hypogonadism, and short stature
- Xeroderma pigmentosum shows eye and neurological abnormalities along with photosensitivity and predisposition to malignancy
- Dyskeratosis congenita presents with the triad of reticulated hyperpigmentation, nail dystrophy, and leukoplakia with the absence of poikiloderma.
Treatment is mainly symptomatic and preventive. Patients should be counseled to avoid trauma and photoprotection should be advised to slow down the progression of poikiloderma. The lifespan remains unaffected but mucosal complications such as strictures and stenosis lead to a significant deterioration in the quality of life. Angelo-Fischer et al. proposed a diagnostic criteria for KS.
Major criteria-acral blistering in the infancy, progressive poikiloderma, cutaneous atrophy, photosensitivity and fragility, and/or swelling of gums. Minor criteria- syndactyly, mucosal involvement and urethral, anal, laryngeal, and esophageal stenosis. Additional findings nail dystrophy, pseudoainhum, ectropion, leukokeratosis of the lip, dental problems, anhidrosis, skeletal abnormalities, and squamous cell carcinoma., The diagnosis is “confirmed” if four major criteria are present. The presence of three major and two minor criteria makes a “probable” diagnosis and diagnosis is likely if two major and two minor/additional features are present.
Our patient satisfied four major criteria, thus confirming the diagnosis of KS. In this article, we report the presence of KS in a girl from nonconsanguineous marriage with acral blistering, progressive poikiloderma, cutaneous atrophy with the absence of photosensitivity.
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], [Figure 5], [Figure 6]