 Abstract | | |
Hutchinson Gilford Progeria Syndrome (HGPS) is a rare, sporadic, autosomal dominant syndrome that involves premature ageing and death at early age due to myocardial infarction or stroke. A 30-year-old male with clinical and radiologic features highly suggestive of HGPS is presented here with description of differential diagnosis, dental considerations and review of literature. Keywords: Hutchinson-Gilford progeria syndrome, HGPS, premature ageing
How to cite this article:
Mohamed Riyaz S S, Jayachandran S. Progeria. Indian J Dent Res 2009;20:508-10 |
Hutchinson Gilford Progeria syndrome, first described by Hutchinson [1] and Gilford, [2] is a combination of dwarfism, immaturity and pseudosenility. [3] The body of a child who has progeria actually ages 8 to 10 years for every year he/she is alive. Ironically, children with progeria have an above average intelligence. It has a reported incidence of about one in four to eight million newborns with a total reported incidence of just over 100 in the century since its discovery. It affects both sexes equally and all races. HGPS is not usually passed down in the families. [4],[5]
| Case Report | |  |
A 30-year-old male reported to the department of Oral Medicine, Diagnosis and Radiology of our Hospital with the chief complaint of pain in the upper left back teeth region of one week duration.
History (as narrated by the patient's mother) revealed that the first two years of his life were normal followed by failure to gain in both height and weight subsequently followed by loss of hair and eyebrows. Medical history revealed that he was a diabetic. Drug history revealed that the patient was on aspirin and antihyperhypertensives. Dental history revealed that he had undergone extraction of 46 after careful systemic monitoring in our institution which was uneventful. On general examination, the patient looked older than his age. He was moderately nourished, short statured [Figure 1] with an abnormal gait and weighed 35 kg. His blood pressure was found to be 155/95 mm of Hg. His vision was normal. He had alopecia, loss of eyebrows, loss of eyelids, prominent eyes, thin beak like nose, malformed tragus and earlobes [Figure 3], pear shaped thorax, thin atrophic skin along the upper and lower extremities, loss of subcutaneous fat around the extremities, atrophic nails with degeneration of terminal phalanges, prominent knee joints, and prominent superficial veins along the hands. The patient was almost able to bring his shoulders together [Figure 2],[Figure 3],[Figure 4]. The knee movements, especially flexion, were restricted. This indicated periarticular fibrosis.
On extra oral examination, the patient had hypoplastic mandible with a prominent beak like nose with mild midfacial deformity giving a "plucked bird" appearance [Figure 2]. The submandibular glands were prominent giving an appearance of double chin [Figure 1] and [Figure 2]. Opening of mouth was restricted (interincisal distance-30 mm). Lateral movements of the temporomandibular joint were also restricted.
On intra oral examination, the teeth were of normal size when compared to the small size of the jaw; crowding of lower anteriors, high arched palate, missing maxillary canines (13 and 23); lingually erupting 32, 42 and recession of gingiva along the lower anteriors were seen [Figure 6]. The mucosa appeared normal on inspection and was confirmed by palpation.
Radiological evaluation
The posteroanterior view (PA view) of the skull showed disproportion in the craniofacial size - the cranium was larger than the maxilla and the mandible. It showed open saggital sutures with wormian bones along the coronal suture closer to pterion. The occipitomental view (PNS view) of the skull showed open coronal sutures [Figure 6]. OPG revealed poorly developed body and ramus of the mandible, missing 13, 23 and 46 with impacted 28, 38, and 48. The morphology of the condyles appeared to be altered [Figure 7].
Anteroposterior and lateral view of the knee joints and lower limbs showed decreased density of bone, decreased trabeculation in the epiphyseal plate with distal osteolysis. For a 30-year-old male, these features are highly suggestive of early osteoporotic change. The anteroposterior view of the chest showed clavicular resorption failing to fuse with the manubrium sterni. The left ventricle of the heart was enlarged indicating hypertrophy [Figure 8].
Investigations
Complete hemogram revealed elevated platelet count (4,50,000/c.mm), elevated prothrombin time [21 seconds], marginal increase in HDL and triglyceride levels, and increased urinary hyaluronidase levels. The postprandial plasma glucose was found to be 175 mg/dl. The serum phosphorus levels were found to be 8 mg/dl. In HGPS, the prothrombin time, platelet count and serum phosphorus levels tend to be elevated. [6] Correlating the history, clinical features, radiological findings and laboratory investigations, the findings were consistent with HGP syndrome.
| Discussion | | |
HGPS is caused by a point mutation in the gene coding for LaminA or Progerin in chromosome1. [7] The patients are usually afflicted with high blood pressure, angina pectoris, stroke, dilated cardiomyopathy, heart failure. [8] Low doses of aspirin can be given to improve cardiac health.
Other treatment options include administration of growth hormone and farnesyl transferase inhibitors (FTI). FTI's are antimetabolites which inhibit the farnesylation of LaminA protein, there by limiting the accumulation of defective LaminA protein. [9]
After careful systemic monitoring, the following dental procedures can be carried out;
- Extractions to relieve crowding under antibiotic coverage.
- Minor oral surgical procedures, if definitely warranted.
- Restorations and oral prophylaxis.[Figure 5]
| References | | |
| 1. | Hutchinson, J. Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Lancet I: 923 only, 1886.  |
| 2. | Gilford H. Ateleiosis and progeria: Continuous youth and premature old age. Brit Med J 1904;2:914-8. |
| 3. | Gorlin RJ, Pindborg JJ. Syndromes of Head and Neck. McGraw Hill Publications: 1964. p. 468-74. |
| 4. | Sarkar PK, Shinton RA. Hutchinson-Gilford progeria syndrome. Postgrad Med J 2001;77:312-7. [PUBMED] [FULLTEXT] |
| 5. | DeBusk FL. The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of literature. J Pediatr 1972;80:697-724. |
| 6. | Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, et al. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med 2008;358:592-604. [PUBMED] [FULLTEXT] |
| 7. | Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford Progeria Syndrome. Nature 2003;423;293-8. |
| 8. | Baker PB, Baba N, Boesel CP. Cardiovascular abnormalities in progeria. Case report and review of literature. Arch Pathol Lab Med 1981;105:384-6. |
| 9. | Capell BC, Erdos MR, Madigan JP, Fiordalisi JJ, Varga R, Conneely KN, et al. Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A 2005;102:12879-84. [PUBMED] [FULLTEXT] |
Correspondence Address:
S Jayachandran
Department of Oral Medicine, Diagnosis and Radiology, Tamil Nadu Government Dental College and Hospital, Chennai
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0970-9290.59442
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8] |
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