Hemochromatosis is a hereditary or acquired chronic iron overload syndrome that presents with organ damage to the liver, pancreas, heart, joints and skin due to pathologic iron deposition. Hereditary hemochromatosis is a common genetic disorder with human hemochromatosis protein (HFE) mutations found in European ethnic groups but has low-prevalence in the Asian population. Secondary or acquired hemochromatosis may result from ineffective erythropoiesis, liver disease and parenteral iron overload. A 51-year-old Filipino woman presented with generalized hyperpigmentation associated with severe anemia and hepatomegaly. Laboratory investigation revealed a markedly elevated serum ferritin (>2,000 g/L, 10x the normal) and hepatic aminotransferases (6x elevated). Magnetic resonance imaging (MRI) T2-weighted images revealed hypotense signal of the liver with the magnetic susceptibility measurement (MSM) of iron at 12.297 mg/g indicating severe iron overload. Dermatopathology findings revealed hyperpigmented epidermis with hemosiderin found in the basal keratinocytes as well as around cutaneous adnexal structures. Special stain with Perls’ Prussian blue revealed iron granules that are seen as blue pigments in the epidermis and dermis. Treatment with the oral iron chelator deferiprone (DFP) showed improvement. However, the patient developed hospital-acquired sepsis, deteriorated, and eventually died.
Dancel J. Acquired hemochromatosis: a case report in a Filipino patient and literature review. J Phil dermatol Soc. 2018; 27(2): 80-5.
Hemochromatosis, Hereditary Hemochromatosis, Secondary Hemochromatosis, Iron overload disease, HFE gene, Iron.
- . Felitti VJ. Hemochromatosis: a common, rarely diagnosed disease. Permanente J. 1999;3:10-20.
- Smith LH. Overview of hemochromatosis. Western Journal of Medicine. 1990;153(3):296-308.
- Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS; American Association for the Study of Liver Diseases. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;54(1):328–343.
- Yenson PR, Yoshida EM, Li CH, Chung HV, Tsang PW. Hyperferritinemia in the Chinese and Asian community: A retrospective review of the University of British Columbia experience. Canadian Journal of Gastroenterology. 2008;22(1):37-40.
- Timoteo V, Dalmacio L, Nacis J. Blood iron concentration and status in pregnant Filipino women with single nucleotide polymorphisms in HFE, TMPRSS6, and TF. Philippine Journal of Science. 2018;147(1):99-112.
- Philippine Dermatological Society Health Information Systems. Philippine Dermatological Society. c2011 [updated (March 17, 2018); cited (June 20, 20180)]
- Wright JA, Richards T, Srai SKS. The role of iron in the skin and cutaneous wound healing. Frontiers in Pharmacology. 2014;5:156.
- Milstone LM, Hu R-H, Dziura JD, Zhou J. Impact of epidermal desquamation on tissue stores of iron. Journal of Dermatological Science. 2012;67(1):9-14. doi:10.1016/j.jdermsci.2012.04.003.
- Davies G, Dymock I, Harry J, Williams R. Deposition of melanin and iron in ocular structures in haemochromatosis. The British Journal of Ophthalmology. 1972;56(4):338-342.
- Gattermann N. The treatment of secondary hemochromatosis. Dtsch Arztebl Int. 2009;106(30):449–504.
- Bothwell TH, MacPhail AP. Hereditary hemochromatosis: etiologic, pathologic, and clinical aspects. Semin Hematol. 1998 Jan. 35(1):55-71.
- Das SK, Patel VB, Basu R, et al. Females Are Protected From IronOverload Cardiomyopathy Independent of Iron Metabolism: Key Role of Oxidative Stress. Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease. 2017;6(1):e003456. doi:10.1161/JAHA.116.003456.
- Chevrant-Breton J, Simon M, Bourel M, Ferrand B. Cutaneous Manifestations of Idiopathic Hemochromatosis Study of 100 Cases. Arch Dermatol. 1977;113(2):161–165. doi:10.1001/archderm.1977.01640020033004.
- Cawley EP, Hsu YT, Wood BT, Weary PE. Hemochromatosis and the Skin. ArchDermatol. 1969;100(1):1–6. doi:10.1001/archderm.1969.01610250007001.
- Barry M. Iron and the liver. Gut. 1974;15(4):324-334.
- Hernando D, Levin YS, Sirlin CB, Reeder SB. Quantification of Liver Iron with MRI: State of the Art and Remaining Challenges. Journal of magnetic resonance imaging : JMRI. 2014;40(5):1003-1021. doi:10.1002/jmri.24584.
- Tariq A, Westra K, Santo A. An unfortunate case of acquired hemochromatosis: a case report review of the clinical presentation, diagnosis, management and prognosis. Int Med Case Rep J. 2016 Dec 8;9:385-387.
Authors: Katrina Carmela M. Belen, MD, DPDS, Jasmin J.Jamora, MD, FPDS , Ma. Cecilia P. Ingente MD, DPDSAbstractBackground: Dermoscopy, a non-invasive diagnostic tool, has been proven to improve the diagnostic accuracy of vascular tumors since it can aid in...
A randomized, double-blind, comparative study on the safety and efficacy of virgin coconut (Cocos nucifera l.) oil against 1% hydrocortisone lotion as an anti-inflammatory and antipruritic preparation for mosquito reactions
Authors: Uy, Veronica S, MD; Gracia B. Teodosio, MD, FPDS; Ma. Teresita G. Gabriel, MD, FPDS; Mary Catherine T. Galang, MD; Mohammad Yoga A. Waskito, MD; Johannes F. Dayrit, MD, FPDS Abstract Background: Virgin coconut oil (VCO) has been reported...
Primary Cutaneous Anaplastic Large Cell Lymphoma (PC-ALCL) is a rare Non-Hodgkin lymphoma (NHL) representing approximately 9% of all cutaneous lymphomas.3 It usually manifests as a slow-growing, solitary tumor which has a tendency to regress spontaneously. However, metastasis is reported in 5-10% of cases.