Infantile progeria E34.8

Autosomal-recessive (?) inherited or spontaneous mutations of the Hutchinson-Gilford-Progeria syndrome gene (HGPS gene; gene locus: 1q21.2) and the lamin A gene (LMNA gene; gene locus: 1q21.2) with consecutive disruption of lamin A or prelamin A.

The clinical picture can be summarised purely descriptively under the term "senile dwarfism".

The symptoms of senescence already occur in the first months of life.

Integument: parchment-like atrophic skin with translucent veins. Skin hair sparse, early graying and falling out, underdevelopment of eyelashes and eyebrows. Nail dystrophies.

Extracutaneous manifestations: birth weight usually around 2500 g. Short stature from the age of 1 year. Delayed fontanel closure. Anomalies of the teeth. Contractions of flexion of large joints and finger joints. Osteolysis of end phalanges. Osteoporosis with spontaneous fractures, bilateral coxa valga, deforming arthritis. Atrophy of subcutaneous fat and muscles; protruding abdomen. Reached final length barely over 115 cm, final weight barely over 15 kg. Lack of or incomplete sexual maturation. High, squeaky voice. Hypogenitalism. Severe senescence with early arteriosclerosis, apoplectic insults, coronary insufficiency.

Death mostly before the age of 20 due to consequences of arteriosclerosis (cerebral insults, myocardial infarction)

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