|Year : 2016 | Volume
| Issue : 3 | Page : 235-238
Long nail cuticle in kindler syndrome
Manjaree Morgaonkar, Sarita Kalwaniya, Suresh Kumar Jain, Devendra Yadav
Department of Dermatology, Venereology and Leprology, Government Medical College, Kota, Rajasthan, India
|Date of Web Publication||5-Jul-2016|
Suresh Kumar Jain
253-A, Talwandi, Sheela Choudhary Road, Kota - 324 005, Rajasthan
Source of Support: None, Conflict of Interest: None
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 can also involve mucous membrane, eyes, bones, and rarely nails. We report the case of an adolescent female patient with characteristic features of Kindler syndrome and striking presence of long and thick cuticle of nails, which has been rarely reported.
Keywords: Cuticle, Kindler syndrome, nails
|How to cite this article:|
Morgaonkar M, Kalwaniya S, Jain SK, Yadav D. Long nail cuticle in kindler syndrome. Indian J Paediatr Dermatol 2016;17:235-8
|How to cite this URL:|
Morgaonkar M, Kalwaniya S, Jain SK, Yadav D. Long nail cuticle in kindler syndrome. Indian J Paediatr Dermatol [serial online] 2016 [cited 2020 Feb 19];17:235-8. Available from: http://www.ijpd.in/text.asp?2016/17/3/235/175663
| Introduction|| |
Kindler syndrome is a rare, autosomal recessive genodermatosis. It is characterized by skin blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Mucosal involvement is common in Kindler syndrome. Nail involvement is not a usual finding in Kindler syndrome, and long cuticle of nails in the syndrome is rarely described in literature. Here, we present a case of Kindler syndrome in two siblings and its association with long and thick nail cuticle.
| Case Report|| |
A 10-year-old female born of consanguineous marriage presented to our department with complaints of repeated blistering over extensors of forearms, dorsum of hands, and dorsum of feet since 1 month after birth. Blister formation was precipitated by trauma and used to heal spontaneously in 1–2 weeks. Frequency of blistering gradually decreased and eventually stopped at around 5–6 years of age. She also had a history of burning sensation and redness occurring immediately after sun exposure. For last 7 years, the patient noticed progressive fragility and wrinkling of skin. The patient complained of frequent constipation. There was no history of difficulty in urination.
The younger brother of the patient had blistering in infancy and developing progressive thinning and wrinkling of skin. Elder sister of the patient was absolutely normal. All three children were born after uneventful pregnancies and no history of recurrent abortions.
On examination, there was mottled hyper and hypopigmented macules with telangiectasia all over the body [Figure 1] and [Figure 2]. Marked atrophy was present over extensors of forearms and hands and cigarette paper like wrinkling over dorsum of hands and feet. There was markedly reduced dermatoglyphics over palms and soles and contracture of proximal interphalangeal joint of the right index finger. Hyperkeratotic plaques were seen on the flexures. Oral examination revealed inability to fully open the mouth, halitosis, gingivitis and gingival hyperplasia. On eye examination bilateral ectropion was present.
The scalp hair was normal in color and growth pattern. All nails including fingernails and toenails were dystrophic. Cuticles in most nails were longer, covering almost one third of the nail plate, fragile, and thick [Figure 3]. Her physical, mental, and sexual development was normal.
|Figure 3: Long and thick cuticles covering up to one-third of the nail and flexion contracture of the index finger of right hand|
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Routine laboratory tests including complete blood count, liver function test, renal function test, chest X ray, and USG abdomen were normal. Colonoscopy revealed anal stenosis while endoscopy revealed no abnormality. Schirmer test showed decreased lacrimation from both eyes. Slit lamp examination and retinoscopy showed no abnormality. X-ray skull was normal.
Biopsy from forearm revealed epidermal atrophy and sparse lymphocytic infiltrate in the upper dermis [Figure 4]. Diagnosis of Kindler syndrome was made on the basis of clinical findings.
|Figure 4: Histopathology showing epidermal atrophy, flattening of the rete ridges, pigmentary incontinence and infiltration of mononuclear cells in the dermis|
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| Discussion|| |
Kindler syndrome was first described in a 14-year-old girl by Theresa Kindler in 1954. The syndrome is caused by mutations in gene FERMT1 (also known as KIND 1). The gene product, Kindlin-1 plays the role of a focal adhesion adaptor protein linking filamentous actin in the cell cortex, to membrane proteins. It is the first skin fragility disorder caused by a defect in the actin-extracellular matrix (ECM) linkage rather than the keratin-ECM linkage.
Characteristic skin manifestation of Kindler syndrome includes acral blistering, skin fragility, photosensitivity, and poikiloderma. The photosensitivity and blister formation tend to decrease with advancing age. On the other hand, poikiloderma and atrophy are often progressive. Palmoplantar keratoderma obscuring dermatoglyphics is often found. Mucosal involvement can occur in the form of gingivitis, conjunctivitis, esophageal stenosis, urethral stenosis, and phimosis. Other features may include leukokeratosis of the lips, webbing of the toes and fingers, ectropion, dome-shaped skull (turricephaly), and rib and mandibular abnormalities. Nail involvement in Kindler syndrome is uncommon and can occur in the form of thinning nail plate with atrophy, onycholysis, subungual hyperkeratosis, thickening and discoloration of the nail plate, nail fragility, onychodystrophy, Beau's lines, nail ridging, anonychia, and yellow nails.
There are only a few reports of long cuticle of nail in Kindler syndrome. After keratosis follicularis spinulosa decalvans, it is the second disorder described involving nails in the form of long cuticles.
The pathogenesis of the long cuticle is not known. According to one hypothesis atrophy of the living layers of the skin in KS, and a relative sparing of the dead horny layer, which forms the cuticle of the nail, may be the causative factor.
Closest differential diagnosis of Kindler syndrome includes hereditary acrokeratotic poikiloderma or Weary syndrome. Other differential diagnosis of Kindler syndrome is summarized in [Table 1].,,
Histopathology of Kindler syndrome is not specific and biopsy from poikilodermatous skin shows hyperkeratosis, epidermal atrophy and loss of the rete ridges and pigmentary incontinence. A skin biopsy from a blistered area may show cleft at dermal-epidermal junction.
There is no specific treatment for Kindler syndrome but photo protection and good wound care can reduce the morbidity. The present case is being reported due to its rare finding of long nail cuticle.
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]