Kindler syndrome: a rare case report from Syria

Edrees, Souma; Jarkas, Natalie; Hraib, Munawar; Al-Yousef, Khaled; Baddour, Roula

doi:10.1097/ms9.0000000000000503

Cited by 1 publication

(2 citation statements)

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“…The condition often presents at birth as trauma-induced skin blistering, which is more pronounced on the limbs, and it tends to recede with maturity, becoming rare in adulthood [8].…”

Section: Discussionmentioning

confidence: 99%

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Kindler Syndrome Presenting as Colitis in an Infant

Idkaidak,

Albandak,

Alqarajeh

et al. 2023

Cureus

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Kindler syndrome (KS) is an autosomal recessive genodermatosis characterized by skin atrophy, blistering, photosensitivity, and mucosal inflammation. We present a unique case of KS with early and severe neonatal onset in a two-month-old female who presented with severe failure to thrive (FTT) and chronic diarrhea since birth. The infant also had multiple fluid-filled cysts on her foot since birth, which resolved and reappeared at different sites. Anemia, hyponatremia, and coloboma of the right iris were also observed. Whole exome sequencing revealed a homozygous mutation in the FERMT1 gene, confirming the diagnosis of KS. Our case demonstrates a distinct clinical phenotype involving severe colitis and FTT in addition to the typical skin manifestations of KS. This atypical presentation highlights the need for further investigations to gain insights into the impact of the kindlin-1 defect on organs beyond the skin and to explore potential therapeutic approaches for managing severe colitis in affected patients.

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“…The condition often presents at birth as trauma-induced skin blistering, which is more pronounced on the limbs, and it tends to recede with maturity, becoming rare in adulthood [8].…”

Section: Discussionmentioning

confidence: 99%

“…In addition, ectropion, urethral stenosis, and severe phimosis are other common mucosal abnormalities. Periodontitis, mucosal strictures, and aggressive squamous cell carcinomas are among the worst long-term consequences of KS [8].…”

Section: Discussionmentioning

confidence: 99%