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Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl
Author(s) -
Wheeler Patricia G.,
SadeghiNejad Ab
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30530
Subject(s) - tuberous sclerosis , girl , neurofibromatosis , medicine , neurofibromatosis type i , dermatology , genetics , pediatrics , pathology , biology
Neurofibromatosis type 1 and tuberous sclerosis are the two most common neurocutaneous disorders in humans. Both are transmitted as autosomal dominant conditions with a high rate of new mutations and similar clinical features. However, the two disorders have distinct and well‐delineated genetic, biochemical, and physical findings. Simultaneous occurrence of these two conditions is rare. We report on a young girl who inherited both disorders, review similar cases reported in the world literature, and discuss possible implications of the presence of NF1 and TSC in the same individual. © 2005 Wiley‐Liss, Inc.