Child Dental Patient with INCONTINENTIA PIGMENTI

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   the Child Dental Patient with


 

 

Incontinentia Pigmenti
(Bloch-Sulzberger syndrome)

 

Definition


A rare X-linked genodermatosis, of autosomal dominant character, which affects ectodermal and mesodermal tissues:

 

Frequency


  • 1-9 /100.000 newborns
  • Appears almost exclusivelly in female
  • Is usually lethal in males in utero, although survival has been reported in males with a XXY genotype (Klinefelter syndrome) or somatic mosaicism
  • Male:female = 20:1
  • No ethnic or geographic predominance
  • Most cases – in Caucasians

 

Etiology


  • Mutation of the IKBKG (Inhibitor of Kappa B Kinase Gamma) (formerly NEMO) gene, localized on the X-chromozome
  • IKBKG gene is required for NF-KB activation pathways that played important roles in inflammation, immune response, cell growth control, and protection against apoptosis.

Cutaneous manifestations


  • Stage 1 - vesicular
  • Stage 2 - verrucous
  • Stage 3 - hyperpigmented
  • Stage 4 –atrophic

    

!!  Stages may overlap or not occur at all in a same    patient (stages 1 and 3 are more common)

 

Cutaneous manifestations


Stage 1 (vesicular)

  • erythema, vesicles and blisters anywhere on the body but usually spare the face and often respect the midline
  • typically linear pattern, along Blashko’s lines  
  • the lesions develop within the first few weeks of life
  • in general, stage 1 has cleared completely by four months.

Borges J et al. Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis. An Bras Dermatol. 2014;89(3):486-9. Open Access license

 

Stage 2 (verrucous)

  • papulae, verrucous lesions and hyperkeratosis
  • they usually appear on the distal limbs, as the blisters begin to heal
  • the lesions clear completely by six months in over 80% of cases

Ocaña Jaramillo S et al. Incontinencia pigmenti. Estudio descriptivo de la experiencia en dos centros hospitalarios. An Pediatr (Barc). 2020;92:3–12. Open Access license

Stage 3 (hyperpigmented)

  •  Linear hyperpigmentation  
  • more often apparent on the trunk than the limbs
  • fades and disappeares by the end of the second decade

Iordan-Dumitru AD, Luca R - Development dental abnormalities in a child with Incontinentia Pigmenti. Case presentation. Ro J Stomatol2013; LIX(4): 316-9. Open Access license

Kitakawa D et al. Incontinentia pigmenti presenting as hypodontia in a 3-year-old girl: a case report. J Med Case Reports 3, 116 (2009). Open Access license

Stage 4 (atrophic)

  • Hypopigmentation and cutaneous atrophy
  • Lesions are often present before the hyperpigmentation has disappeared completely
  • Until 2 to 3 decades

Ocaña Jaramillo S et al. Incontinencia pigmenti. Estudio descriptivo de la experiencia en dos centros hospitalarios. An Pediatr (Barc). 2020;92:3–12. Open Access license

 

Nails & hair abnormalities


Scarring alopecia, usually on the vertex
Absence or hipoplasia of eyebrows and eyelashes
Onycodystrophy – ranges from mild ridging or pitting to onychogryposis

Ocaña Jaramillo S et al. Incontinencia pigmenti. Estudio descriptivo de la experiencia en dos centros hospitalarios. An Pediatr (Barc). 2020;92:3–12. Open Access license

 

Ocular manifestations


  • Strabismus
  • Microphthalmia
  • Cataract
  • Optic atrophy
  • Retinal lesions – risk of retinal detachment

 

Neurologic manifestations


  • Seizures
  • Spastic paralysis
  • Microcephaly
  • Mental retardation
  • Encephalopaty
!! >60% of patients are neurologically normal

 

Oral features


► Hypodontia
► Delayed eruption
► Impacted teeth
► Morphological anomalies
► Malocclusions

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in 54-90% of IP cases

 

Iordan-Dumitru AD, Luca R - Development dental abnormalities in a child with Incontinentia Pigmenti. Case presentation. Ro J Stomatol2013; LIX(4): 316-9. Open access license

 

Hypodontia


  • Is the most frequent dental anomaly in IP
  • Both in primary and permanent dentition
  • Usually, multiple tooth germs congenitally missing

► Maxilla: lateral incisors, second premolars

► Mandible: second premolars

  • Prolong retention of primary molars .

Chen AY, Chen K. Dental treatment considerations for a pediatric patient with incontinentia pigmenti (Bloch-Sulzberger syndrome). Eur J Dent. 2017;11(2):264‐267. PMC Open access license

 

Atypical tooth morphology


► Conical, trapezoidal and peg-shaped teeth

► Additional cusps in posterior teeth

► Microdontia

 Kitakawa D et al. Incontinentia pigmenti presenting as hypodontia in a 3-year-old girl: a case report. J Med Case Reports 3, 116 (2009). Open access license

 

Malocclusions


  • Class II malocclusions are the most frequent
  • Class III malocclusions are developed due to a rotation of the jaw given the need to cover tooth loss
  • Anterior cross-bite – as a result of poor maxillary growth

Chen AY, Chen K. Dental treatment considerations for a pediatric patient with incontinentia pigmenti (Bloch-Sulzberger syndrome). Eur J Dent. 2017;11(2):264‐267. PMC Open access license

 

Skeletal problems


  • Transverse maxillary deficiency associated with oligodontia in the maxilla and mandible
  • Prominent chin
  • Facial asymmetry, such as facial hemia-trophy and hemifacial hypoplasia.

 

Palate 


  • High-arched palate
  • Cleft palate (1 of 3 cases) ± cleft lip
  • Soft palate hypoplasia

 

Alterations of the stomatognathic system 


  • Esthetic appearance
  • Masticatory function
  • Swallowing disorders
  • Speech and language disorders

 

Dental treatment 


  • Oral rehabilitation by a multidisciplinary team: pedodontist, orthodontist, prosthodontist
  • Aims:
    • improve esthethic appearance
    • Improve occlusal function
    • reestablish masticatory function
  • Primary molars has to be preserved as long as they can
  • Reshaping of malformed teeth using composite
  • Fissure sealant for non-carious molars and premolars.
  • Treatment of hypodontia:
    • fixed or removable prostheses
    • tooth auto-transplantation.
  • Definitive treatment - after growth spurt for:
    • better prognosis
    • esthetic result
    • minimal tooth structure preparation.