Infantile progeriaE34.8

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Gilford Syndrome; Hutchinson-Gilford Syndrome; Nanisme sénile; OMIMM 176670; Progeria; Progeria Hutchinson-Gilford; senile dwarfism

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HistoryThis section has been translated automatically.

Hutchinson 1886; Gilford, 1904

DefinitionThis section has been translated automatically.

Progeria, which manifests itself in the first years of life.

Occurrence/EpidemiologyThis section has been translated automatically.

Very rare, almost exclusively in members of the white race. Incidence: 1/5-15 million births.

EtiopathogenesisThis section has been translated automatically.

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.

ManifestationThis section has been translated automatically.

Beginning of symptoms in the first months of life.

Clinical featuresThis section has been translated automatically.

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.

Differential diagnosisThis section has been translated automatically.

Mandibuloacral dysplasia.

TherapyThis section has been translated automatically.

Symptomatic therapy as far as possible. A causal therapy is not known.

Progression/forecastThis section has been translated automatically.

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

LiteratureThis section has been translated automatically.

  1. Cao H et al. (2003) LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann's rue progeroid syndrome (MIM 264090). J Hum Genet 48: 271-274
  2. Chigira S et al (2003) Increased expression of the huntingtin interacting protein-1 gene in cells from hutchinson Gilford syndrome (progeria) patients and aged donors. J Gerontol A Biol Sci Med Sci 58: B873-878
  3. DeBusk F (1972) The Hutchinson-Gilford syndrome. J Pediatr 80: 697-742
  4. Delgado Luengo W et al (2002) Del(1)(q23) in a patient with Hutchinson-Gilford progeria. At J Med Genet 113: 298-301
  5. Eriksson M et al (2003) Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423: 293-298
  6. Gilford H (1897) On a condition of mixed premature and immature development. Med Chir Transact (London) 80: 17-45
  7. Gilford H (1904) Progeria: a form of senilism. Practitioner (London) 73: 188-217
  8. Gilford H (1904) Ateleiosis and progeria: continuous youth and premature old age. BMY 2: 914-918
  9. Gilkes JJH et al (1974) The premature ageing syndromes. Br J Dermatol. 91: 243-262
  10. Hutchinson J (1886) Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages in a boy. Trans Med Chir Soc (Edinburgh) 69: 473-477
  11. Hutchinson J (1886) A case of congenital absence of hair with atrophic condition of the skin and its appendages.Lancet 1: 923
  12. Wollina U et al (1992) Hutchinson-Gilford syndrome. dermatologist 43: 453-457

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer

Editor: Dr. Tobias Lipek