|LETTER TO EDITOR
|Year : 2017 | Volume
| Issue : 2 | Page : 137-139
A rare case of Kindler's syndrome associated with multiple eruptive melanocytic nevi
Tasleem Arif, Mohammad Adil, Syed Suhail Amin, Konchok Dorjay
Department of Dermatology, STDs and Leprosy, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India
|Date of Web Publication||27-Mar-2017|
Al-Rahman Apartment, Ground Floor, Behind Zakaria Market, New Sir Syed Nagar, Civil Lines Aligarh, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Arif T, Adil M, Amin SS, Dorjay K. A rare case of Kindler's syndrome associated with multiple eruptive melanocytic nevi. Indian J Paediatr Dermatol 2017;18:137-9
|How to cite this URL:|
Arif T, Adil M, Amin SS, Dorjay K. A rare case of Kindler's syndrome associated with multiple eruptive melanocytic nevi. Indian J Paediatr Dermatol [serial online] 2017 [cited 2020 Jan 19];18:137-9. Available from: http://www.ijpd.in/text.asp?2017/18/2/137/202995
Kindler's syndrome is a very rare genodermatosis inherited in an autosomal dominant fashion and characterized clinically by blistering, photosensitivity, and poikilodermatous skin changes. The disease is associated with mucosal strictures, ophthalmic complications, skeletal and dental anomalies, and palmoplantar keratoderma. We present a case of Kindler's syndrome presenting with classical features and associated with multiple eruptive junctional nevi. This association has never been reported in literature.
A 5-year-old female child was brought to us by her parents with chief complaints of wrinkly skin of the hands and feet “resembling that of an old person” since infancy. There was history of photosensitivity and blistering at the hands and feet since birth that improved with age and almost subsided by the age of 4 years. The parents also complained of several dark-colored lesions present over the body that appeared around 6 months back and developed over a period of 2–3 months. There was no history of dysphagia, abnormal dentition, or bony abnormalities. The child was born of a nonconsanguineous marriage. She had three siblings. Similar disease was present in an elder sister, who expired at the age of 6 months due to severe blistering, and in younger brother. One of the elder sisters had no complaints.
Cutaneous examination showed thin, dry, cigarette paper-like atrophic skin over the dorsum of the hands, feet, legs, and forearms [Figure 1]. Atrophy over the palms and soles led to diminution of the creases. The digits were tapered and with bound down skin. An intact, tense bulla was present over the dorsal aspect of the left foot. Several crusted plaques were noted over the thighs and legs. The face and neck showed poikilodermatous changes with atrophy, dyschromia, and telangiectasia [Figure 2]. Multiple well-defined pigmented macules were appreciated distributed discretely over trunk and limbs, each measuring around 3–5 mm in diameter [Figure 3]. Examination of the oral mucosa showed angular stomatitis, poor dental hygiene with dental caries in multiple teeth, and red swollen gums that bled with minimal manipulation suggestive of gingivitis [Figure 4]. Nails were thickened and dystrophic. The scalp, hair, genital and ophthalmological examinations were normal. Systemic examination showed no abnormality.
|Figure 1: Cigarette paper-like atrophic skin over the dorsum of hands and feet with tapering of the digits. An intact bulla is present over the dorsum of the left foot|
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|Figure 3: Numerous discretely distributed junctional nevi over the back. Note that the skin over the back is thin leaving vasculature prominently seen|
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Routine laboratory investigations were normal. Ultrasonography of the abdomen and bone imaging showed no abnormality. The histopathological section from the poikilodermatous skin from the neck showed epidermal atrophy, basal cell vacuolization, dermal mononuclear inflammation, vessel ectasia, and pigment incontinence. The skin biopsy from the pigmented lesions showed nests of proliferating melanocytes at the dermoepidermal junction, suggestive of junctional nevus. Based on the clinical and laboratory evidence, a diagnosis of Kindler's syndrome with multiple junctional melanocytic nevi was made.
Kindler in 1954 described the first case of this disease in a female child with acral blistering, photosensitivity, and pigmentary changes. There have been more than 120 reported cases of this disease since then. A loss of function mutation in a gene encoding the protein that connects the actin cytoskeleton to the extracellular matrix, called Kindlin-1, present on the short arm of chromosome 20 has been found. Financial constraints restricted the use of genetic mapping in our patient. Our patient presented with the classical cutaneous findings of acral blistering, photosensitivity, poikiloderma, and atrophy. Skin blistering and photosensitivity decrease with age, while poikiloderma and atrophy tend to progress. Patients tend to have gingival swelling and fragility; loose teeth, and stenosis of the urethra, anal canal, and esophagus. Ocular conditions such as corneal opacities, ectropion, and thickened corneal nerves are described. Joint hypermobility, rib and skull anomalies, and syndactyly have also been reported. The disease has been associated with early actinic keratosis, squamous cell carcinoma, and transitional cell carcinoma of the bladder. Our patient had gingival swelling and poor oral hygiene. None of the other associations described above were present.
Differential diagnosis includes epidermolysis bullosa, from which Kindler's syndrome is differentiated on the basis of improvement of blistering and presence of photosensitivity and progressive poikiloderma. Bloom syndrome patients do not have poikiloderma and additionally present with short stature, malignancies, and recurrent infections. Patients of Cockayne syndrome have bird-like facies, deafness, and retinopathy. Dyskeratosis congenita presents with reticulate pigmentation and leukoplakia but no poikiloderma or bullae. Xeroderma pigmentosum does not demonstrate vesiculation or poikiloderma. Hereditary acrokeratotic poikiloderma of Weary is an autosomal dominant disease with no photosensitivity or mucosal involvement and shows keratotic papules over the dorsum of hands, knees, and elbows.,
Treatment has not been established and management aims for prevention. Sunscreens might decrease, delay, or prevent poikiloderma. Wound care and antibiotics are needed for the management of wounds. Patients do not have decreased mortality but severe morbidity due to mucosal complications.
Our patient presented with classical features of Kindler's syndrome. The presence of numerous eruptive junctional nevi in our patient makes the case interesting. We could not find any such report in literature.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]