|Year : 1992 | Volume
| Issue : 6 | Page : 395-396
C Ranjan Raval, N Bhavin Bhatt, Frenny Billiomoria
C Ranjan Raval
Source of Support: None, Conflict of Interest: None
An 8-year-old boy presented with clinical manifestations of progeria. He had senile looks, scanty scalp hair, stunted growth, and wrinkled skin with loss of subcutaneous fat. Sclerodermatous changes were found on both thighs and pelvic region, which was confirmed by histopathology.
|How to cite this article:|
Raval C R, Bhatt N B, Billiomoria F. Progeria. Indian J Dermatol Venereol Leprol 1992;58:395-6
| Introduction|| |
Fewer than 100 cases of progeria have been reported till date.  Transmission is most likely from sporadic autosomal dominant mutation.  Clinical manifestations are evident by the first few years of life. Progeria is characterised by retarded physical development, senile facies, skeletal abnormalities, sclerodermatous changes of skin, and progressive senile degeneration.  We report a case.
| Case Report|| |
An 8-year-old boy presented with complaints of stunted growth, loss of weight, and stiffness of joints. His parents had noticed wrinkling of the skin, first on lower limbs, at the age of 2 years. Then gradually he developed thinning and mottled pigmentation of skin of face, upper limbs, and trunk. He also started losing hair on the scalp and body. He was not growing in height and weight normally. His teeth eruption was normal. He had recurrent attacks of pyoderma and fever. For past 1 year he found difficulty in walking and changing of posture due to stiffness of knee joints.
Hidebound skin was found on both the thighs and buttocks. Genitals were normal. Loss of subcutaneous fat was found on face, limbs, and gluteal region with wasting of muscles of limbs. Bird-like face with bony prominences was present. Few nails were found hypoplastic and dystrophic. Inguinal, axillary, submandibular, and cervical lymphnodes were enlarged, nontender, and non-matted. His voice was high-pitched.
In routine investigations nothing was significant except anaemia. Hyaluronic acid was not found in urine. Significant finding on X-ray was extensive calcification in soft tissue around the sacroiliac joint, elbows, and knee joints and also in lower part of the thighs. Skin biopsy from the thigh revealed normal epidermis. Dermis showed oedematosus collagen tissue, with fragmentation and degenerative changes at few places. Blood vessels, sebaceous, and sweat glands were scanty with mild lymphocytic infiltration. Ultrasonography and E C G were normal. No significant changes were present on ophthalmic examination.
| Comments|| |
Our case has classical manifestations of progeria. Stiffness of joints and inability to raise himself should be differentiated from dermatomyositis, but normal CPK report with absence of other changes like heliotrope oedema, Gottron's papules and slow progress with typical facies can exclude the disease.,
Agrogeria is also excluded as it manifests early in life involving only extremities with absence of hair and face involvement.[ [2 Pangeria usually presents between 15 to 30 years of age with immature sexual development, cataract, and sclerodermatous changes. Poikiloderma congenitale appears between 3 and 6 months of age with poikilodermatous skin and cataract.  Cockayne's syndrome is manifested in second decade of life. Remarkable findings include cutaneous photosensitivity, ocular defects, and a "micky mouse" appearance with protruding ears, long disproportionately large hands and feet. 
Raul Fleishmajer had reported the case of progeria in 1973 with clinical findings similar to our case.  In our case long term follow up is required to observe cardiovascular and skeletal abnormalities.
Aetiology of progeria is not known. Danes cultured skin fibroblasts from 3 progeric children and noted a reduction in mitotic activity, DNA synthesis and cloning efficiency.  Hydroxyproline excretion was reported to be low. Incorporation of proline into bone was reduced and there was a reduction in acid soluble collagen in skin. Fibroblasts show a 3 fold increase in the production of hyaluronic acid and tropoelastin production and it has also been suggested that type IV collagen may accumulate due to an interaction between activated T- lymphocytes and fibroblasts. 
| References|| |
|1.||Burton JL. Disorders of connective tissue. In: Text Book of Dermatology (Champion RH, BurtonJL, Ebling FJG, eds), 5th edn. London:Blackwell Scientific Publications, 1992; 1814-5. |
|2.||Badame AJ. Review of progeria. Arch Dermatol 1989; 126: 540-4. |
|3.||Fleischmer R, NedwichA. Progeria: case report. Arch Dermatol 1973;103: 253-8. |
|4.||De Busk FL. The Hutch inson-Gilford, progeria syndrom. J pediatrics 1972; 80: 697-724. |
|5.||Danes BS. Progeria : a cell culture study of aging. J Clin Invest 1971; 50: 2000-3. [PUBMED] [FULLTEXT]|
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