Rare syndromes and orphan diseases of the face at Paris Est

Reconstructive Surgery Pr Meningaud

A question often asked about rare syndromes concerns the existence of specific treatments. In fact, most of the plastic treatments proposed involve surgical techniques that are not specific to these syndromes.

The surgeon’s art lies in knowing how to combine them. To do this, he draws on his knowledge of these syndromes, bearing in mind that they are sometimes so rare that it is difficult for a surgeon to gather experience from more than a few cases. What’s more, variability within the same syndrome can be very high.

In addition, the specialist keeps abreast of, or is himself a proponent of, new techniques and adapts them to individual cases.

Rare syndromes and orphan diseases of the face in East Paris

Maxillofacial Surgeon Paris Est Créteil

Cherubism

Disease of the facial bones (fibrous dysplasia) giving the child’s face the chubby appearance of a cherub. It runs in families. These benign lesions are mainly concentrated on the mandible, but exceptionally all facial bones may be affected. In most cases, these lesions regress spontaneously at puberty.

In a few rare cases, they do not. In these cases, treatment is essentially plastic, as it is not possible to radically remove all lesions. Shaping osteotomies are then performed to correct the deformities.

Example of adult cherubism

Kikushi

A rare condition manifested by inflammatory lymph nodes in the cervical region in the context of fever. The origin is immunological, but the precise cause is unknown.

Diagnosis is made by histological analysis following surgical removal of a lymph node. Histologically, necrosis is accompanied by a predominantly histiocytic infiltration.

Recovery is spontaneous within a few weeks. This disease should not be confused with lymphoma.

Professor Jean-Paul Meningaud

Rare syndromes and orphan diseases of the face at Paris Est

This is a rare variety of first arch syndrome (disorder of embryological development of the first branchial arch). It is genetically inherited, but the precise mode of transmission is unknown. The karyotype (chromosomal formula) is normal.

Symptoms

Malformation of the skull and face, with small eye sockets and protruding frontal bosses, a small face, and a thin, tapering nose curved into a parrot’s beak. A “bird’s head” appearance.

Radiological examination shows a thin cranial vault with insufficient mineralization and late closure of the anterior fontanelles.

Scaphocephaly: skull malformation characterised by an excessively elongated shape from front to back, and flattened on the sides. It is due to premature fusion of the sagittal suture. It is a variety of craniostenosis.

Or brachycephaly: skull truncated at the back (seen from above, the skull is as wide as it is long). It is due to the early fusion of the two coronal sutures. It is a variety of craniostenosis.

Microcephaly: skull dimensions smaller than the average for other children.

Retrognathism: term derived from retro, backward, and gnathos, jaw, reflecting a deformity of the lower jaw, which appears to be thrown back when viewed in profile.

Hypoplasia of the mandible: the lower jaw is underdeveloped. There is a shortening of the ascending branches. The articulations (condyles) are insufficiently developed.

Eye anomalies :
  • Strabismus: lack of convergence of the two visual axes
  • Nystagmus: involuntary, low-amplitude oscillation and rotation of the eyeball.
  • Blue sclera (white of the eye),
  • Fundus abnormalities,
  • Palpebral slits oblique outwards and downwards,
  • Congenital cataract: opacification of the crystalline lens,
  • Microphthalmia,
  • Diminished visual acuity, rarely blindness
Dental anomalies (in 80% of cases)
  • dento-maxillary disharmony: irregularly implanted teeth with abnormal shape,
  • Early caries,
  • teeth erupt irregularly
  • Dental agenesis: some teeth are missing,
  • Neonatal teeth: teeth present at birth

Fragile skeleton

Ribs are thread-like, bones are long (especially the fibula), as are the ulna, radius and hand bones.

Skin and hair changes

Hypotrichosis (sparse hair)

Skin atrophy

Statural growth failure (in half of cases)

Unlike other 1st arch syndromes, there are no abnormalities of the auricle. Intellectual capacity is preserved.

Syndrome characterised by damage to collagen fibers. It affects both men and women. The precise incidence is unknown (1/5000 to 1/10000 births).

This anomaly causes :

ligament hyperlaxity, leading to frequent dislocations

skin hyperlaxity (“hyper-stretch”) and fragility, leading to unsightly scars.

The heart, arteries, intestine, bladder and eyes may be affected.

Haematomas are frequent without haemostasis disorders.

Hernias are frequent and often recur even after well-managed treatment.

In the maxillofacial field, there is a high incidence of anterior dislocation of the mandible. Occlusal rebalancing can help prevent this. Surgical intervention should be reserved for cases where functional re-education has failed. Degenerative osteoarthritis may occur at an early stage.

Advice for the dentist (from Dr. P. de Coster, Ghent):

preventive treatment of the dentition is important, given the abnormal morphology of the dental grooves and the cardiovascular risks (bacteremia) in type IV.

If the patient is known to have these cardiovascular risks, antibiotics should always be prescribed before any invasive treatment, including scaling!

It’s important to have good radiographic documentation before undertaking any root treatment; refer your patient to a specialist (endodontologist) if you’re unsure about whether treatment is appropriate.

Orthodontic treatment should be carried out very slowly, with regular radiological monitoring of the periodontal support tissues.

Tooth extractions should be carried out in the least traumatic way possible, and always require suturing after removal of mucoperiosteal traction at the edges of the wound.

Carry out regular periodontal checks during follow-up visits.

Learn tissue-sparing brushing techniques and the use of soft brushes.

Take care when removing absorbent cotton rolls; always moisten them beforehand to avoid tissue injury.

Beware of opening the mouth too wide for treatment, and prescribe relaxation physiotherapy in time for hypermobile jaws; beware of rapid progression to degenerative arthrosis in the case of frequent dislocation.

Chronic arthritic jaw pain is sometimes difficult to distinguish from headaches or dental pain radiating into the distal region.

Wounds should be sutured thinly with non-absorbable suture and left for a long time.

Ehlers Danlos syndrome is the name given to a group of rare genetic disorders, named after the work of Ehler, a Dane, and Danlos, a Frenchman, in the early 20th century. It may be a deficiency of collagen III or IV.

Transmission is most often autosomal dominant (the syndrome is transmitted to 50ù of children, regardless of sex). It may also be autosomal recessive. In some cases, it may be an isolated mutation which is then transmissible. Genetic counselling is necessary.

Diagnosis is clinical. For some, skin biopsy and fibroblast culture can help.

To date, there is no treatment for the cause. Only symptoms can be treated. Surgical intervention must be discussed at length, given the difficulty of healing. Rehabilitation is essential, but must be carried out by a specialist. Healthy living is the best form of prevention. The role of the attending physician is very important, as he or she centralises specialist advice.

There is an association that we recommend: L’Association Française des Syndromes Ehlers Danlos. 34, rue Léon Joulin 37000 Tours tel : 0 825 00 11 33

Fax: 02 35 42 35 37 website: http://assoc.wanadoo.fr/ehlers.danlos

In the Paris region, Pr Claude Hamonet’s department at CHU Henri Mondor in Créteil has a very good knowledge of functional rehabilitation for these patients.

This is a hereditary condition (autosomal dominant transmission). Characterised by lack of development of the clavicles, delayed or absent fusing of the skull bones, and dental malformations as seen in the panoramic X-ray below:

This triad is frequently associated with insufficient development of the spine, pelvis and phalanges. The skull is enlarged, with frontal, parietal and occipital humps.

This syndrome was first described by Parry in 1825. It is characterised by progressive atrophy, beginning in childhood, of all tissues of a left or right half of the face. It is more common in women. Its origin is unknown.

Suggested etiologies are: traumatic, infectious by slow virus, sympathetic nervous system dysfunction, immunological, vascular.

Fifteen percent of patients suffer from neurological problems: epilepsy, migraine, hemiplegia, etc. The most frequent associated ophthalmological problems are enophthalmos and ptosis.

The most interesting examination is MRI (magnetic resonance imaging), which provides information on atrophy of the various facial structures (skin, subcutaneous tissue, muscle, bone) and also on any localised cerebral anomalies. Treatment involves plastic surgery techniques such as bone grafting and lipofilling.

Tricho-rhino-phalangeal syndrome is associated with skeletal anomalies (enlarged interphalangeal joints, short stature, coxo-femoral, vertebral involvement), hair anomalies (fine, dry, sparse, brittle hair, slow growth), and facial anomalies;

Facial anomalies may include:

Nose anomalies: enlarged, pear-shaped nose, with globular, drooping tip, short, enlarged columella

an elongated face with an increase in the three facial levels

Thin upper lip. An elongated philtrum with virtually no philtral ridges.

Abnormalities of the auricle

Type II is associated with varying degrees of mental retardation;

It is a genetically inherited disease (autosomal dominant) linked to a mutation on chromosome 8. Depending on the precise location of the mutation, 3 distinct types of tricho-phalangeal syndrome can be distinguished.

From a facial standpoint, this syndrome is of interest to maxillo-facial surgeons and orthodontists, as it leads to :

1/dento-maxillary disharmony consequences due to the extent of bi-retroalveolism. Spontaneous compensations sometimes allow normal dental articulation. Failing this, an inverted bite with or without a gap can be treated orthodontically and surgically.

2/aesthetic consequences for the nose, auricle and chin area.