L’hémochromatose génétique

Irregular, blotchy hyperpigmentation of the left nose, cheek and eyelid

“…Hyperpigmentation of the skin is seen in 90 % of HH patients and can also be found at early stages [7,8]. The typical clinical tetrad of liver cirrhosis, diabetes mellitus (bronze diabetes), skin hyperpigmentation and cardiac failure is nowadays only evident in less than 10 % of C282Y homozygotes due to modern diagnostic features [2,9]. The typical clinical tetrad of liver cirrhosis, diabetes mellitus (bronze diabetes), skin hyperpigmentation and cardiac failure is nowadays only evident in less than 10 % of C282Y homozygotes due to modern diagnostic features [2,9].…”

“…It is mostly evident on sun-exposed skin such as the face, and the color can range from slate gray to brownish bronze. The typical clinical tetrad of liver cirrhosis, diabetes mellitus (bronze diabetes), skin hyperpigmentation and cardiac failure is nowadays only evident in less than 10 % of C282Y homozygotes due to modern diagnostic features [2,9]. Early diagnosis and treatment of HH is fundamental to prevent organ damage and complications.…”

Unregelmäßige, fleckige Hyperpigmentierung linksseitig an Nase, Wange und Augenlid

“…Interessanterweise ist die klinische Penetration gering, etwa 30 % der C282Y-homozygoten Patienten zeigen keinerlei Symptome einer HH [2]. Die typische klinische Tetrade aus Leberzirrhose, Diabetes mellitus (Bronzediabetes), Hyperpigmentierung der Haut und Kardiomyopathie wird heutzutage, aufgrund moderner Diagnostik, in weniger als 10 % der C282Y-homozygoten Patienten beobachtet [2,9]. Frühsymptome sind meist unspezifisch und können sich als Schwächegefühl, chronische Müdigkeit, Libidoverlust, Hepatomegalie, Bauchund Gelenkschmerzen äußern [6,7].…”