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Lipodystrophy due to peptidic growth factors deficiency
Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).
- Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency
- Hoepffner-Dreyer-Reimers syndrome
- Werner-like syndrome due to combined growth factor deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Unknown
- Age of onset: Neonatal
- ICD-10: E88.1
- OMIM: 233805
- UMLS: C1856243 C2931279
- MeSH: -
- GARD: 12604
- MedDRA: -
The syndrome has been described in only one family with three affected siblings.
Other clinical signs are joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, and micrognathia. One sibling also showed insulin-resistant diabetes mellitus.
The syndrome is due to a combined decreased action of insulin, insulin-like growth factor I (IGF-1) and epidermal growth factor (EGF).
The disease shows common clinical characteristics with Werner syndrome (see this term).
- Clinical practice guidelines
- English (2016)