Kindler syndrome: a rare case report from Greece

Abstract

Kindler syndrome is a rare autosomal recessive inherited disease characterized by infantile acral bullae, progressive poikiloderma, cutaneous atrophy, photosensitivity and various forms of mucosal involvement. In this paper, we report a case of a 49-year-old Greek Caucasian male aiming to emphasize the importance of genetic analysis as a gold standard of diagnosis.

A novel frameshift mutation in the <em>FERMT1</em> gene in a Chinese patient with Kindler syndrome

“…Only 23 mutations were revealed to be recurrent in >1 report. Notably, c.676insC was the most common mutation reported in 11 different reports (7,(22)(23)(24)(25)(26)(27)(28)(29)(30)(31) in multiple populations, including German, Albanian, Kosovian, Turkish, Serbian-Greek, Pakistani, Serbian, Australian, Indian, Brazilian and Greek Caucasian, indicating that c.676insC may be a mutation hotspot and serve as a founder effector in the genetic pathogenesis of KS. Furthermore, c.910G>T occurred in 6 reports (20,23,25,27,32,33), c.328C>T in 5 reports (9,20,23,34,35), c.1718+2T>C in 4 reports (20,22,36,37) in multiple different populations and appeared to be relatively common in FERMT1.…”

Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa

“…Microstomia, or restricted mouth opening, probably due to fibrosis of the commissures, has been reported in several patients with KEB (Image 2.19). 4,132,135,138,155,156,[165][166][167][168][169][170][171][172] However, many patients do not complain of this functional problem. No studies have been identified on the severity or prevalence of this feature.…”

“…While some patients, particularly younger cases, do not report involvement of the oral mucosa, [173][174][175][176] others report few ulcers 164,177,178 and a third group presents fragile mucosa and painful ulcers scattered throughout the oral mucosa, affecting the alveolar ridge, soft palate, lip, and floor of the mouth. 133,162,164,165,179,180…”

“…Partial obliteration of the oral vestibule, also described as: "synechiae between the lips and the gums," "adhesions between the lips and gingiva," or "atrophy of the buccal mucosa" has been described in several patients with KEB (Image 2.20). 4,132,133,138,155,161,166,167,[169][170][171][172][181][182][183] Reticular pigmentation on the cheek, 160,163 white hyperkeratotic papules on the buccal mucosa, 165…”

“…[186][187][188] Multiple single-patient reports also highlight gingival health as a major concern, 132,133 including a 14-year-old patient who lost all of her teeth due to severe periodontitis. 161 Most of the descriptions of periodontal disease in patients with KEB have been published by medical teams; therefore, the authors use more general terms such as: halitosis, 164,177 gingivitis, 156,160,163,164,[180][181][182][183]189,190,191 severe gingivitis, 164,168,192,193 erosive stomatitis, 194 desquamative gingivitis, 155,160,165 easy bleeding, 155,157,164,167,[180][181][182]195,196 gingival hypertrophy, 162,178,197 periodontitis, 135,[157][158][159]162,164,178,180,184,…”