REV.CHIM.(Bucharest) ♦ 70 ♦ no. 12 ♦ 2019 4201 http://www.revistadechimie.ro The Assessment of Polysaccharides, Mucosubstances and Colagen IV in Kindler Syndrome DALIA DOP 1 , ILEANA PUIU 1 *, CRISTINA ELENA SINGER 1 , SIMONA IANOSI 2 , CATALIN PLESEA CONDRATOVICI 3 , SORIN BERBECE 3 , CARMEN ELENA NICULESCU 1 1 University of Medicine and Pharmacy of Craiova, Pediatrics Department, 2 Petru Rares Str., 200349 Craiova, Romania 2 University of Medicine and Pharmacy of Craiova, Dermatology Department, 2 Petru Rares Str., 200349 Craiova, Romania 3 Dunarea de Jos, University, Faculty of Medicine and Pharmacy, Department of Morphological and Functional Sciences, 47 Domneasca Str., 800008, Galati, Romania Kindler syndrome is a rare autosomal recessive genodermatosis characterized by particular fragility of the skin and mucosa, manifesting in the appearance of bullae in minor traumas, photosensitivity, diffuse cutaneous atrophy and progressive poikiloderma. It is caused by mutations in the FERMT1 gene encoding kindlin-1. We present the case of a 12-year-old girl diagnosed with Kindler syndrome showing the classical clinical features affecting the skin, in addition to nail involvement, gingivitis, periodontitis, growth retardation, mental retardation, esophageal and anal stenosis. The histopathological examination of a cutaneous biopsy revealed the presence specific features of Kindler syndrome. Keywords: Kindler syndrome, photosensitivity, esophageal and anal stenosis, skin biopsy Epidermolysis bullosa was first described in 1886 and it represents a group of diseases characterized by various degrees of cutaneous involvement determined by mutations in various structural proteins of the skin [1]. In 2007, at the Third International Consensus Meeting on Diagnosis and Classification of Epidermolysis Bullosa held in Vienna, Austria, Kindler syndrome was included in the Epidermolysis bullosa group, together with the simplex, junctional and dystrophic forms [2]. Kindler syndrome (KS) is a rare genodermatosis characterized by particular fragility of the skin and mucosa, manifesting in the appearance of bullae in minor traumas in infancy and childhood, photosensitivity, diffuse cutaneous atrophy and progressive poikiloderma. [3]. It is a polymorphous disease; alongside the skin involvement, we can also find mucosal involvement, syndactyly, mental retardation, involvement of the eyes, teeth or bones. [3,4,5]. It is a very rare disease, with approximately 250 cases reported in the world [6]. The transmission is predominantly recessive, but some cases of dominant transmission have also been reported [7]. In this article we present a case of Kindler syndrome in a 12-year-old girl, with a unique association of manifestations and poor prognosis secondary to mucosal involvement. Experimental part We present the case of a 12-year-old girl born of a non-consanguineous marriage. The onset of the symptoms occurred a few days after birth, with recurrent blistering on the hands and feet and ulcerations of minor traumas, which subsequently ruptured and often became secondarily infected and healed slowly; after healing, the patient presented white atrophic skin. Subsequently, the patient presented progressive photosensitivity, alterations of the skin in the extremities, face, neck, and torso, poikiloderma, scars with cigarette paper wrinkling and diffuse palmoplantar hyperkeratosis. The family history was negative. She has a younger sister with no complaints. During the physical examination, the patient presents ulcerative lesions on the calves and in the dorsolumbar region, xeroderma and diffuse cutaneous atrophy. The skin is fragile, with telangiectases; hypo- and hyperpigmentation on the trunk, especially in the upper part, as well as in the dorsolumbar region and on the limbs (Figure 1). She presents scars with cigarette paper wrinkling on the back of the hand and feet, diffuse palmoplantar hyperkeratosis and pseudoainhum (Figure 2). There were also periodontal diseases, xerostomia, gingivitis, premature loss of teeth (Figure 3), restricted mouth opening and angular cheilitis, nail dystrophy (onycholysis). transverse and longitudinal ridges, yellow discoloration). The patient also presented growth retardation, mental retardation and chronic constipation. An anal stenosis was highlighted during the barium enema examination. The patient also complained of dysphagia, with the endoscopic examination revealing esophageal stenosis. The eye examination was within normal limits. Routine blood tests were within the normal range. *email: vipuiu@yahoo.com, Phone: +40747088100 All authors share equal rights.