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Case Reports
. 2013 Nov-Dec;88(6 Suppl 1):212-5.
doi: 10.1590/abd1806-4841.20132173.

Sporadic Kindler syndrome with a novel mutation

Hiram Larangeira de Almeida Jr  1 , Gláucia Thomas Heckler  2 , Kenneth Fong  3 , Joey Lai-Cheong  3 , John McGrath  3
Affiliations
Case Reports

Sporadic Kindler syndrome with a novel mutation

Hiram Larangeira de Almeida Jr et al. An Bras Dermatol. 2013 Nov-Dec.

Abstract
in English, Portuguese

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.

Nós relatamos uma paciente feminina de 28 anos com Síndrome de Kindler, uma forma rara de Epidermólise Bolhosa. Clinicamente, ela apresentava alterações cutâneas pigmentares disseminadas, fotossensibilidade e fragilidade da pele e das mucosas desde a infância. O envolvimento mucoso levou à estomatite erosiva e a estenoses esofágica, anal e vaginal, as quais necessitaram de intervenções cirúrgicas. O diagnóstico de Síndrome de Kindler foi confirmado por sequenciamento de DNA, que demonstrou heterozigose composta uma combinação de mutações uma nonsense e outra frameshift (p.Arg110X; p.Ala289GlyfsX7) no gene FERMT1.

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Conflict of interest statement

Conflict of interest: None

Figures

FIGURE 1
FIGURE 1
Atrophy of the skin on the back of the hand (a) and foot (b)
FIGURE 2
FIGURE 2
Dyschromia on the forearm (a) and trunk (b)
FIGURE 3
FIGURE 3
Light microscopy with disruption of dermal collagen bundles (a) and focal reduction in elastic fibers (b) (Verhoeff Staining x100 and x 400)
FIGURE 4
FIGURE 4
Sequencing of the FERMT1 gene with two heterozygous mutations
See this image and copyright information in PMC

References

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