|Year : 2000 | Volume
| Issue : 5 | Page : 259-261
Charandeep Kaur, Saroj Fatnani, Asha Matravadia, A
Source of Support: None, Conflict of Interest: None
A case of progeria is being reported in a 7-year old boy. He had characteristic facies, short stature, alopecia, high pitched voice, coxa valga and sclerodermatous changes in skin.
Keywords: Premature senilism, Coxa valga, Short stature
|How to cite this article:|
Kaur C, Fatnani S, Matravadia A, A. Progeria. Indian J Dermatol Venereol Leprol 2000;66:259-61
| Introduction|| |
The first formal record of progeria was given by Hutchinson in 1886.  Gilford introduced the term progeria. Although certain features are superficially akin to those associated with natural ageing, persistent infantilism and markedly abnormal pathologic alterations not of the character of senility are as much in evidence as premature senile changes so the name Hutchinson Gilford syndrome is rather preferable. The faulty developed clinical appearance is remarkably stereotypic.
The syndrome being a rare hereditary disorder prompted us to report this case. To the best of our knowledge, less than 100 cases have been reported in the world literature. 
| Case Report|| |
Our patient, a 7-year-old boy weighing 14 kg presented with diffuse hair loss and showed sparse, brittle and brownish black hair since 1 year as the major complaint. The facies was characteristic, small face, recessed dimunitive chin (micrognathia) prominent scalp with visible scalp veins, flared ears, hooked, beaked nose, ciliary and superciliary madarosis [Figure - 1].
There was no history of convulsion or consanguinity of marriage in parents. Mild photosensitivity was revealed. His father had alopecia totalis with ciliary and superciliary madarosis and facies typically resembling to our patient to a great degree. Both our patient and the father had nail dystrophy.[Figure - 2]
Detailed examination revealed short stature height was 97 cm only (corresponding height at 50th percentage in a normal 7-year-old boy is 121cm) [Figure - 3], high pitched voice, and sclerodermatous skin with hyperpigmentation over the forearm. Intelligence was normal. Prominent joint and muscle atrophy and coxa valga were other important features. Genitals were normal. Rest of physical examination was non contributory.
Radiographic study of skull, chest and hip joint was normal. Fundoscopy and trichogram did not show any anomaly. Electrocardiographic findings were within normal limits.
| Discussion|| |
Our patient had classical clinical manifestations of progeria the most outstanding features were dwarfism, carniofacial disproportion, micrognathia, beaked nose with nasal cartilage visible through the thin skin, prominent scalp veins, diffuse alopecia, scleroderma-like skin changes, high pitched voice, prominent joints, bone changes (coxa valga), atrophy of subcutaneous tissue, poorly developed muscuiar system and normal intelligence. This disease should be distinguished from scleroderma, Werner's syndrome, Rothmund- Thomson syndrome and anhydrotic ectodermal dysplasia.  The other features  which may be associated are nail changes (dystrophic, koilonychia, onychogryphosis, racket-like nails), generalised alopecia, hypoplastic nipples, abnormal and delayed dentition, skeletal abnormalities (dystrophic clavicle, joint contracture, horse riding stance, progressive bone resorption leading o to frequent fractures) and poor sexual maturation. Death usually occurs in second decade as a result of severe generalised atheroma.
It is probably due to autosomal recessive inheritance, but the patient does not reproduce. In progeria fibroblasts have been shown to have decreased survival time in tissue culture. There is three-fold increase in production of hyaluronic acid by fibroblasts and urinary hyaluronic acid is also increased.
The histopathologic changes in skin include atrophy of epidermis and dermis. Progressive hyalinization of dermal collagen and loss of subcutaneous fat. The cardiovascular changes include atheroma, intensive myocardial fibrosis, and extensive lipofuscin deposition.
The bones show osteolysis, osteoporosis, necrosis, dislocation and poorly healing fracture.
The calvaria and thin long bones require protection from trauma. A wig is protective and cosmetic to patient and parents require psychological counselling. Diet control and sometimes medical treatment is required to prevent hyperlipidaemia and atherosclerosis.
| References|| |
|1.||Crounse RG. Clinical Dermatology Vol. I, Demis DJ. Sixteenth Revision, Philadelphia, J.B. Lippincott Company 1989, Unit 4 - 30, 1-5. |
|2.||Burton JL. Disorders of connective tissue. In: Textbook of Dermatology. Champion RH, Burton IL, Ebling FJ. 5 thsub edition, oxford University Press Bombay; Blackwell Scientific Publication 1992;1814-5. |
|3.||Fitzpatrick TB, Arack KA, Clark, WH. Jr, et al. Dermatology in General Medicine, Second Edition, Mc Graw Hill Book Company; 1979, 604. |
|4.||Fleischmajer R, Nedwich A. Progeria (Hutchinson Gilford syndrome). Arch Dermatol 1973;107:253-8. |
[Figure - 1], [Figure - 2], [Figure - 3]