La tunisie Medicale - 2012 ; Vol 90 ( n°010 ) : 746 - 748
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Article
This syndrome was maybe described for the first time with the famous Julia Pastrana [1834-1860] who presented congenital hypertrichosis terminalis , gingival hyperplasia and maybe a mental retardation as described by waterman “feeble intellect” (1) though others ( Laurence 1857 , Sigmund (1) found her “ intelligent”) ; however, no form of epilepsy was reported. Some authors (Snyder (2), Anavi et al. (3), Kiss et al. (4)) have noticed that quadruple associations in some rare cases.

Case report

A 7 years old Caucasian boy, product of healthy non consanguineous parents, presented a general hypertrichosis, gingival hypertrophia, a mental retardation and epilepsy. He has no familiar pathological history. The pregnancy was unremarkable, delivery at term uneventful. The mother didn’t report any medication intake. On examination he had thick eyebrows and generalized hypertrichosis with a promaxilly, a flattened nose, low-set ears, and a large cephalo-conchal angle (Figures 1 - 2). On oral examination (Figure 3) we found a severe gingival hypertrophia which covered almost the whole tooth. We also discovered a delayed tooth eruption in the lower arch. His cephalic perimeter was normal as well as his staturoponderal development. His external genitalia were normal.
Notice, the first seizures occured at the age of five years. On scan CT there were no abnormalities (Figure 4-G). On orthopantographie: (Figure 5-H) all teeth were present and in good position. Tooth germs are in place. Genetic exploration revealed a normal karyotype. He underwent a gingivectomy in two stages. The evolution was good without recurrence with a decline of 4 years (Figure 6). Histological examination showed a regular squamous lining, very hyperplastic, parakeratotic and acanthotic; under which there is a dense collagenous fibrous tissue with a slight inflammatory lymphoplasmacytic infiltration.

Figure 1: (A) (B) Preoperative photograph of patient with thick eyebrows, a flattened nose, low-set ears and a large cephalo-conchal angle.



Figure 2: (C) (D) Generalized hypertrichosis



Figure 3: (E) Promaxilly with gingival smile; (F) On oral examination we found a severe gingival hypertrophia which covered almost the whole tooth. We also discovered a delayed tooth eruption in the lower arch.



Figure 4: (G) CT scan there were no abnormalities (H) orthopantography: all teeth were present and in good position. Tooth germs are in place



Figure 5: (I) preoperative view; (J) immediate postoperative view after gingiectomy; (K) appearance 4 years after gingivectomy with good result and without recurrence
see figure-5

Conclusion


Hypertrichosis and gingival hypertrophy were reported in more than fifty cases. Against their, simultaneous association with epilepsy and mental retardation has been found only in some cases. The management of this association should be multidisciplinary; and genetic exploration is certainly the key to this puzzle.
Références
  1. Bondenson J, Miles Aew, Pastrana J. The Nondesript: An example of congenital, generalized hypertrichosis terminalis with gingival hyperplasia. Am J Med Genet A 1993; 47:198-212.
  2. Synder c. Syndrome of gingival hyperplasia, hirsutism and convulsion. J Pediatr; 1965; 67:499-502.
  3. Anavi Y, Lerman P, Mintz S, Kiviti S. Idiopathic familial gingival fibromatosis associated with mental retardation, epilepsy and hypertrichosis. Dev Med Child Neurol. 1989; 31:538-42.
  4. Kiss P. Gingival fibromatosis, mental retardation, epilepsy and hypertrichosis: 2cases reports. Dev Med Child Neurol 1990; 32:495-60.
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