|Year : 2014 | Volume
| Issue : 1 | Page : 42-45
Kindler syndrome: A case presenting with blistering poikiloderma and photosensitivity
Dwijendra Nath Gangopadhyay, Samujjala Deb, Joly Seth, Abhijit Saha
Department of Dermatology, Venereology, and Leprosy, Burdwan Medical College and Hospital, Burdwan, West Bengal, India
|Date of Web Publication||2-May-2014|
46/4 Swarnamoyee Road, P. O. Berhampore, Murshidabad - 742 101, West Bengal
Source of Support: None, Conflict of Interest: None
Kindler syndrome is a rare genodermatosis with autosomal recessive inheritance and less than 150 cases reported worldwide. It results from loss of function mutation in the KIND1 gene (FERMT1), which has been localized to the short arm of chromosome 20. Onset is just after birth with traumatic blistering healing without scarring, skin fragility, progressive poikiloderma and photosensitivity improving with age. Systemic complications and fatally aggressive squamous cell carcinoma have also been reported. Here, we report a case with classic dermatologic manifestations in an 8-year-old female along with a brief review of literature.
Keywords: Kindler syndrome, photosensitivity, poikiloderma, traumatic blistering
|How to cite this article:|
Gangopadhyay DN, Deb S, Seth J, Saha A. Kindler syndrome: A case presenting with blistering poikiloderma and photosensitivity. Indian J Paediatr Dermatol 2014;15:42-5
|How to cite this URL:|
Gangopadhyay DN, Deb S, Seth J, Saha A. Kindler syndrome: A case presenting with blistering poikiloderma and photosensitivity. Indian J Paediatr Dermatol [serial online] 2014 [cited 2020 Oct 22];15:42-5. Available from: https://www.ijpd.in/text.asp?2014/15/1/42/131842
| Introduction|| |
Kindler syndrome was named after Theresa Kindler who considered the disease to be a simultaneous occurrence of two rare diseases - hereditary epidermolysis bullosa and poikiloderma congenitale.  However later Weary et al. described the disease as hereditary acrokeratotic poikiloderma and the disease was also known as Weary-Kindler syndrome.  Only recently, the exact genetic defect causing Kindler syndrome has been identified as a loss of function mutation of kindlin-1, a human homolog of Caenorhabditis elegans actin-extracellular matrix linker protein UNC-112, located on chromosome 20p13.2, which is a component of focal attachment, especially in basal keratinocytes.  With a little more than 100 cases described in literature the largest case series ever reported was from a tribe in the Bocas del Toro province on the North-Western Caribbean coast of Panama.  Kindler syndrome needs to be differentiated from Weary syndrome, Hereditary Sclerosing Poikiloderma, Rothmund-Thomson syndrome, Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, and xeroderma pigmentosum.
| Case report|| |
An 8-year-old female born of a nonconsanguineous marriage, was brought to the outpatient department by her parents who were concerned with the presence of multiple hypo and hyper pigmented lesions all over her body. Her mother gave a history of traumatic blistering, which started within few days of birth, continued until about 4 years of age and which healed without scarring. There was also history of extreme sensitivity to sunlight characterized by a burning sensation and redness of skin and of occasional episodes of gum bleeding in the past. She had two siblings who were unaffected. On clinical examination, the child was friendly and interactive. She had extensive poikilodermatous changes all over her body with atrophy, reticulate pigmentation and telangiectasia, which were more pronounced over her face and neck [Figure 1], [Figure 2], [Figure 3]. The dorsa of her hands had characteristic "cigarette paper" wrinkling with dystrophic nails [Figure 4] and palm and sole dermatoglyphics were lost [Figure 5]. There was mild periodontitis and cheilitis with leucokeratosis over oral mucosa [Figure 6]. Her intelligence quotient and sexual maturity were appropriate for her age. Systemic examination was unremarkable and laboratory investigations were within the normal limits with respect to her age and sex. Biopsy of skin from her forearm showed features of poikiloderma on histopathology with atrophic epidermis along with flattened rete ridges, vacuolization of basal cells and pigmentary incontinence [Figure 7] and [Figure 8]. Deoxyribonucleic acid mutation analysis and genetic analysis could not be carried out due to lack of resources. The parents were advised to take adequate photo protective measures and to limit activity in the sun and also asked to pay close attention to oral hygiene They were counseled about the prognosis of the disease in the child and advised to bring her for regular follow-ups to identify any systemic complication at the earliest.
|Figure 2: Pronounced atrophy with reticulate pigmentation over sides of neck|
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|Figure 4: Cigarette paper wrinkling over dorsa of hands with dystrophic nails|
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|Figure 8: Histopathology showing atrophic epidermis, flattened rete ridges, basal vacuolization and pigmentary incontinence|
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| Discussion|| |
Kindler syndrome is a rare genodermatosis with onset early in life and traumatic acral blistering, progressive poikiloderma, skin atrophy and photosensitivity. The disease has an onset in infancy right after birth with traumatic blistering healing without scarring which progresses to poikiloderma and skin atrophy and photosensitivity. The cutaneous manifestations usually improve with age, but systemic complication may arise especially aggressive squamous cell carcinoma which needs to be kept in mind.  Kindlin-1 plays an inhibitory role in preventing over - secretion of basement membrane components by basal cells of the epidermis at the dermo-epidermal junction. Skin atrophy in Kindler syndrome is due to defects in actin-extra cellular matrix linkage. Systemic complication can arise in the form of mucosal ulcerations and stenosis leading to esophageal strictures, anal stenosis, urogenital strictures, ocular complications like ectropion, etc.
The disease needs to be differentiated from a number of other conditions with similar clinical features. Weary syndrome which is one of the main differentials, becomes manifest with blistering around 6 months of age although photosensitivity is not a major feature, also associated features similar to atopic eczema are present and the disease is inherited in an autosomal dominant manner.  In Rothmund Thompson syndrome poikiloderma and photosensitivity is accompanied by hypogonadism, sparse hair, mental retardation etc., which are not seen in Kindler syndrome. The bullous disorders may be differentiated by the improvement of the blistering and poikiloderma seen in Kindler syndrome and also the different genetic mutations. Patients of xeroderma pigmentosum often have early onset malignancies with neurologic abnormalities. 
Bloom syndrome shows telangiectasia, photosensitivity and erythema of the face and other sun exposed parts but not true poikiloderma. Cockayne syndrome shows erythema, atrophy hyperpigmentation in photo distributed parts along with dwarfism, deafness, progressive pigmented retinopathy and bird-like facies. Dyskeratosis congenita presents with the triad of leukoplakia, nail dystrophy and reticulated hyperpigmentation. ,
Recently, Fischer et al. have proposed a set of criteria for diagnosis of Kindler syndrome even in the absence of genetic studies.  According to the proposed criteria, the presence of four major criteria makes the diagnosis certain, the presence of three major and two minor criteria makes the diagnosis probable, and presence of two major and two minor criteria or associated findings, diagnosis is considered to be likely. According to these criteria, our patient satisfied four major criteria and thus had a definitive diagnosis of Kindler syndrome. We report this case keeping in mind the rarity of Kindler syndrome.
| References|| |
|1.||Kindler T. Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Dermatol 1954;66:104-11. |
|2.||Weary PE, Manley WF Jr, Graham GF. Hereditary acrokeratotic poikiloderma. Arch Dermatol 1971;103:409-22. |
|3.||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. |
|4.||Penagos H, Jaen M, Sancho MT, Saborio MR, Fallas VG, Siegel DH, et al. Kindler syndrome in native Americans from Panama: Report of 26 cases. Arch Dermatol 2004;140:939-44. |
|5.||Karthikeyan K, Thappa DM, Jeevan KB. Kindler syndrome with squamous cell carcinoma of the leg. Indian J Dermatol 2003;48:231-3. |
|6.||Kaviarasan PK, Prasad PV, Shradda, Viswanathan P. Kindler syndrome. Indian J Dermatol Venereol Leprol 2005;71:348-50. |
|7.||Ghosh SK, Bandyopadhyay D, Das J, Chatterjee G, Sarkar S. Kindler's syndrome: A case series of three Indian children. Indian J Dermatol 2010;55:393-6. |
|8.||Sharma RC, Mahajan V, Sharma NL, Sharma AK. Kindler syndrome. Int J Dermatol 2003;42:727-32. |
|9.||Fischer IA, Kazandjieva J, Vassileva S, Dourmishev A. Kindler syndrome: A case report and proposal for clinical diagnostic criteria. Acta Dermatovenerol Alp Panonica Adriat 2005;14:61-7. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]