hutchinson  gilford progeria syndrome ( hgps ; mim 176670 ) was first described in 1886 by jonathan hutchinson and by hastings gilford in 1897 . since then , just over 100 cases of hgps have been reported and currently , there are approximately 40 known cases worldwide . significant morbidity and mortality result from accelerated atherosclerosis of the carotid and coronary arteries leading to premature death during the second decade of life . a three - year - old boy presented with progressive loss of scalp hair , eyebrows , and eyelashes since six months of age along with stunted growth as a major complaint . the child 's antenatal history was normal but was born to third - degree consanguineously married parents . on examination , he had a senile look with prominent eyes , sparse hair with patches of alopecia and visible veins over the scalp , beaked nose , and receded chin [ figure 1 ] . his voice was high pitched and growth was stunted as parameters were less than the third percentile . teeth and genitals were normal and intelligence quotient ( iq ) was corresponding to the age . hands were short and clawed with thickening and hardening of the skin over the knuckles with racquet nails . there was mottled pigmentation and sclerodermatous changes over the trunk and lower limbs [ figure 2 ] . lower limbs also had prominence of knees and slight valgus deformity [ figures 3 and 4 ] . typical facies of progeria : senile look with prominent eyes , sparse hair , beaked nose , and receded chin mottled pigmentation and sclerodermatous changes over the trunk skin tightening and prominence of knees mid flexion and slight valgus deformity of lower limbs leading to a  horse - riding stance the serum lipid profile showed a decrease in high - density lipoproteins ( hdl ) . x - ray of the chest showed a pyriform thorax , overcrowding of proximal ribs , and short clavicle with pointed lateral ends [ figure 5 ] . x - ray of the skull showed diastasis of the sutures and prognathism [ figure 6 ] . x - rays of hands and feet showed acro - osteolysis of phalanges and tarsals [ figure 7 ] . x - ray of the chest showing a pyriform thorax , overcrowding of proximal ribs , and short clavicle with pointed lateral ends x - ray of the skull showing diastasis of the sutures and prognathism . most cases of hgps occur due to de novo autosomal dominant mutation in the lmna gene , located on band 1q21.1 - 1q21.3 this leads to abnormal transcription of the nuclear lamina structural protein called prelamin a. normal farnesylation of prelamin a allows it to attach to the nuclear membrane . failure to remove this farnesyl group , due to the mutation , permanently affixes the protein to the nuclear membrane [ table 1 ] . this affects nuclear morphology and integrity , deoxyribonucleic acid ( dna ) repair , regulation of gene expression , and telomere stability . ultimately , there is genomic instability , decreased cell proliferation , and premature cell senescence and death . difference in prelamin a formation in normal and mutated lmna gene the infant is generally healthy at birth but there may be sclerodermatous skin changes involving the trunk and extremities in some cases . hair growth decreases over the scalp and other parts of the body with areas of alopecia followed by cardiovascular involvement . lipodystrophy involving the face leads to typical facies with senile look , glyphic nose , and involvement of the lower limbs with valgus deformity and mid flexion leads to a  horse riding  stance . there is diffuse osteopenia , acro - osteolysis of the phalanges and distal clavicles , but bone age is normal . hgps is considered a segmental progeroid syndrome in the sense that it does not recapitulate all the characteristic phenomena of aging like increased tumor formation and cataract development . hypertension develops , but unlike arteriosclerosis in the general population , in progeria , the only lipid abnormality is decreased hdl levels . this syndrome should be distinguished from scleroderma , cockayne syndrome , rothmund  thomson syndrome , werner syndrome , acrogeria , and anhidrotic ectodermal dysplasia . in our case , cockayne syndrome was ruled out because of lack of photosensitivity , facial erythema , and ocular defects , and normal iq . thomson syndrome was ruled out by the absence of erythema , poikiloderma , and cataract . acrogeria also manifests at birth but involves only extremities with no tendency to atheroma or decreased life expectancy . there was an absence of conical teeth , hypotrichosis , and partial or complete anhidrosis , which ruled out hypohidrotic ectodermal dysplasia . typical clinical features of the child were sufficient to make the diagnosis . decreased hdl levels and typical x - ray findings confirmed the diagnosis .