Sporadic Kindler Syndrome with a novel mutation

Abstract

We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.

Oral manifestations in Kindler syndrome: case report and discussion of literature findings

“…Systemic corticotherapy may also be indicated, as the anti‐inflammatory properties of corticoids can improve the patient's overall health status . When esophageal stenosis is present, regular esophageal dilation sessions with parenteral feeding are indicated . Although uncommon, vaginal stenosis may be present in pregnant women and should be taken into consideration during obstetric planning with regard to the need to indicate a Cesarean section in cases of severe genital lesions.…”

“…Also, even after treatment for periodontitis, the gingiva will not have a normal, healthy appearance. Therefore, patients diagnosed with Kindler syndrome should ideally be included in a rigorous preventive maintenance program so as to continuously improve their overall clinical status and symptoms …”

“…24 When esophageal stenosis is present, regular esophageal dilation sessions with parenteral feeding are indicated. 25,26 Although uncommon, vaginal stenosis may be present in pregnant women and should be taken into consideration during obstetric planning with regard to the need to indicate a Cesarean section in cases of severe genital lesions. Appropriate perioperative management is also needed, so as to protect vulnerable skin and mucosa.…”

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants

“…Although EB is one of the most common inherited skin disorders, with a birth prevalence of 1.9/100000 in Europe, epidemiological and genetic data in Brazil are scarce. The few published studies from Brazilian EB patients usually consist of small samples or case reports, addressing mainly clinical data and rarely include genetic analysis . Our aim was to characterize the genetic basis of EB in Brazil, estimating the prevalence of recurrent and novel EB variants, using a next‐generation sequencing (NGS)‐based multigene panel.…”

“…The few published studies from Brazilian EB patients usually consist of small samples or case reports, addressing mainly clinical data and rarely include genetic analysis. [18][19][20][21] Our aim was to characterize the genetic basis of EB in Brazil, estimating the prevalence of recurrent and novel EB variants, using a next-generation sequencing (NGS)-based multigene panel.…”