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Niemann‐pick disease type B: Clinical signs and follow‐up of a new case
Author(s) -
Pavone L.,
Fiumara A.,
LaRosa M.
Publication year - 1986
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01813906
Subject(s) - disease , medicine , dermatology , niemann–pick disease , signs and symptoms , girl , pathology , pediatrics , biology , genetics
A girl affected by Niemann‐Pick disease type B is reported. The patient presented unusual skin lesions of nummular eczematous dermatitis, signs of delayed puberty and stunted physical development, together with the typical symptoms involving visceral organs and lungs. This disease may therefore indirectly affect more body organs than assumed.