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Inborn errors of lipid metabolism—dermatological aspects
Author(s) -
KNOBLER R.M.,
BECERANO S.,
GEBHART W.
Publication year - 1988
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.1988.tb00729.x
Subject(s) - medicine , lipid metabolism , dermatological diseases , dermatology , inborn error of metabolism , intensive care medicine , endocrinology
Summary Skin manifestations of inborn errors of metabolism may be the first alerting clue that leads to their diagnosis. Therefore, practising dermatologists should he familiar with presenting symptoms as well as diagnostic alternatives in this field. In most cases cutaneous manifestations are nonspecific, for example xanthelasmas, xanthomas or angiok‐eratomas. Nevertheless, they may help pinpoint the general group of metabolic disorders that come into consideration. This is of crucial importance because of the ever‐growing number of metabolic disorders being described and the costly investigative procedures involved in diagnosing them. The careful clinical and microscopic evaluation of abnormal and normal appearing skin can provide many clues, saving time and reducing the number of laboratory investigations. This paper will focus on the inborn errors of lipid metabolism with their particular cutaneous characteristics.