Kindler syndrome in a Saudi kindred

Abstract

We report a large consanguineous Saudi-Arabian pedigree containing 11 individuals with the autosomal recessive genodermatosis, Kindler syndrome. Three affected cases died in infancy but the remaining eight had signs of photosensitivity, generalized poikiloderma, webbed fingers, loss of dermatoglyphics and nail dystrophy. The majority also had oral involvement with bleeding gums. Additional features seen in some cases included pseudoainhum of the toes, sclerotic bands on the wrists and hand deformities. The aetiology of Kindler syndrome is not yet known, but the underlying defect leads to both cutaneous and oral inflammation, along with photosensitivity and scarring.

Kindler Syndrome in Native Americans From Panama

“…Many subsequent reports have established this syndrome as a distinct clinical entity. [2][3][4][5][6][7][8][9][10][11] To our knowledge, we describe herein the largest series of patients with Kindler syndrome (KiS) to date-26 cases in 10 families from the Bocas del Toro province of Panama. This kindred was used to identify the gene for KiS (KIND1) on chromosome 20p12.3.…”

A Very Rare Case of Kindler Syndrome

“…Syndactyly, sclerotic bands of the wrists 10 , nail dystrophy, ectropion of the lower lid, multiple stromal nebular corneal opacities, thickened corneal nerves 11 , palmoplantar keratoderma, pseudoainhum, leucokeratosis of the lips and oral mucosa, xerostomia 12 , dental caries and atypical periodontitis with earlier onset and more rapid progression 13 , squamous cell carcinoma 14 , hypohidrosis, phimosis, skeletal abnormalities 15 , such as dome-shaped skull, bifid or missing ribs and mandibular abnormalities may be also observed.…”

Autosomal Recessive Total Congenital Anonychia, in a Saudi family

“…There are several common and rare genetic dermatological disorders reported in families from Saudi Arabia. These include; Kindler syndrome [4], Multiple hereditary trichoepitheliomas [5], Lamellar ichthyosis [6], Hereditary hypotrichosis simplex [7]. Anonychia congenita totalis, had also been reported from Saudi Arabia but in a single patient [8].…”