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Leprechaunism
Author(s) -
Barba Annalisa,
Chieregato Carlo,
Schena Donatella,
Pizzo Paolo
Publication year - 1995
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1111/j.1468-3083.1995.tb00543.x
Subject(s) - medicine , dermatology , girl , genetics , biology
A 10‐year old girl with leprechaunism was studied by clinical examination, blood tests and skin biopsies. She is one of the few cases of such long survival and the first one with two missence mutations demonstrated in the alpha‐1 subunit of the insulin receptor. The case is interesting not only because of its rarity and typical morphology but also because nowadays it is possible to explain the clinical features at a metabolic and hormonal level.