FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report

Arch Argent Pediatr. 2019 Jun 1;117(3):e274-e278. doi: 10.5546/aap.2019.eng.e274.
[Article in English, Spanish]

Abstract

Ehlers-Danlos syndrome (EDS) is a group of clinically and genetically heterogeneous inherited connective tissue disorders, characterized by skin hyperextensibility, poor wound healing, joint hypermobility and tissue friability. Since 1997 a new spectrum of novel rare EDS-variants has been described, among which is included the EDS kyphoscoliotic type, characterized by severe muscular hypotonia at birth, severe progressive kyphoscoliosis, osteopenia, fragile eyeballs and vascular fragility. This EDS variant is caused by mutations in the PLOD1 gene; however, a rare recessive variant that compromises the FKBP14 gene has been reported, with additional clinical findings that includes gross motor developmental delay, myopathy, hearing impairment and a normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline in urine. We report the first Colombian patient with a FKBP14 c.362dupC mutation, with clinical features that include generalized hypotonia, delayed gross motor milestones, hearing loss, early-onset progressive kyphoscoliosis, joint hypermobility and foot deformities.

El síndrome de Ehlers-Danlos es un conjunto de trastornos hereditarios del tejido conectivo, clínica y genéticamente heterogéneos, caracterizados por hiperextensibilidad cutánea, pobre cicatrización, hipermovilidad articular y friabilidad tisular. Desde 1997, se han reportado variantes poco frecuentes del síndrome, entre las cuales se incluye el de tipo cifoescoliótico, causado por mutaciones en el gen PLOD1, caracterizado por hipotonía muscular grave al nacer, cifoescoliosis grave progresiva, osteopenia, ojos frágiles y fragilidad vascular. También ha sido descrita una rara variante recesiva que compromete el gen FKBP14, con hallazgos clínicos adicionales, que incluyen retardo del desarrollo psicomotor, miopatía, hipoacusia y una proporción normal de lisil-piridinolina a hidroxilisil-piridinolina en la orina. Se presenta el primer caso de una paciente colombiana con una mutación FKBP14 c.362dupC, caracterizada por hipotonía generalizada, retardo en el desarrollo de los hitos motores gruesos, hipoacusia, cifoescoliosis progresiva temprana, hipermovilidad articular y deformidades en los pies.

Keywords: Ehlers Danlos syndrome; Molecular pathology; Spinal curvature.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Colombia
  • Ehlers-Danlos Syndrome / diagnosis*
  • Ehlers-Danlos Syndrome / genetics
  • Ehlers-Danlos Syndrome / physiopathology
  • Female
  • Humans
  • Muscle Hypotonia / etiology*
  • Mutation
  • Peptidylprolyl Isomerase / genetics*

Substances

  • FKBP14 protein, human
  • Peptidylprolyl Isomerase

Supplementary concepts

  • Ehlers-Danlos syndrome type 6