Kindler Syndrome: Through the Looking Glass

A 12-year-old boy presented with mottled skin pigmentation, recurrent wounds over the trunk and extremities, xerosis, and persistent photophobia since the age of 1 month. He had severe pruritus, marked more during the summer. Birth history revealed that the child was born post-term, with neonatal asphyxia and had developed generalized bullous eruptions 8 days after birth. There was no evidence of any developmental delay, missed immunizations, or other systemic involvement. Clinical examination revealed generalized poikiloderma [Figure 1], cigarette-paper-like crumbling of skin over extremities [Figure 2], waxy keratoderma of palms [Figure 3], few crusted ulcers, and abscesses. Oral mucosa showed hyperplastic gums, enamel-stained teeth, and cheilitis [Figure 4]. A clinical diagnosis of Kindler’s syndrome (KS) was made. Dermoscopy was done for mottled pigmentation over the neck and showed background erythema, white polygonal areas, unevenly pigmented dots, and yellowish discoloration [Figure 5].[1] Ophthalmological examination showed episcleritis and was managed conservatively. The patient was advised genetic testing to confirm the diagnosis but was unable to do so due to financial constraints. He was managed conservatively with systemic antibiotics, emollients and photoprotective measures.Figure 1: Poikiloderma (atrophy, telangiectasia, and hyperpigmentation), crusted ulcers, and abscesses over the upper backFigure 2: Cigarette-paper-like crumbling of skin over handsFigure 3: Waxy keratodermaFigure 4: Hyperplasia of gums and enamel-stained teeth with cheilitisFigure 5: Dermoscopy of mottled pigmentation over neck showing white polygonal areas, unevenly pigmented dots, and yellowish discoloration.[ 1 ] (Medicam 1000 FotoFinder, 20x)KS is an autosomal recessive genodermatosis due to the mutation in FERMT1, coding for kindlin-1 protein.[1,2] Differential diagnosis includes epidermolysis bullosa, xeroderma pigmentosum, dyskeratosis congenita, Bloom syndrome and Cockayne syndrome. It is a rare entity and requires a multidisciplinary approach for management.[3] Declaration of consent The authors certify that they have obtained all appropriate consent forms, duly signed by the parent(s)/guardian(s) of the patient. In the form, the parent(s)/guardian(s) has/have given his/her/their consent for the images and other clinical information of their child to be reported in the journal. The parents understand that the names and initials of their child/children will not be published, and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.