Hailey-Hailey Disease Maps to a 5 cM Interval on Chromosome 3q21-q24
نویسندگان
چکیده
منابع مشابه
A review on Hailey-Hailey disease
Hailey-Hailey disease (HHD) is a rare autosomal dominant blistering skin disease first described in 1939. It is characterised by vesicular or crusted erosions on the neck and in intertriginous areas. Though it is known that the gene responsible for HHD is located on 3q21-q24, it is only recently found that the disease is a result of the mutations in the Ca2+ ATPase ATP2C1. A spectrum of mutatio...
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BACKGROUND The bullous variant of Darier's disease (DD) is a rare type characterized by histological and clinical overlap with Hailey-Hailey disease (HDD). CASE REPORTS The following case report describes two cases of familial DD; a 51-year-old woman who presented with erythematous plaques, covered by small blisters in axillary and inguinal areas, and the first patient's daughter, who present...
متن کاملDarier disease and Hailey-Hailey disease.
Darier disease (DD) and Hailey-Hailey disease (HHD) are autosomal dominantly inherited genodermatosis, caused by mutations in ATP2A2 gene and ATP2C1 respectively. We investigated clinical and laboratory two patients - a men with Darier disease and a woman with Hailey-Hailey disease. The patient with Darier disease has mucosal lesions and dental modifications associated with mild mental retardat...
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Editor We would like to report the use of methotrexate to treat a female patient with refractory, long standing Hailey–Hailey disease (HHD). To our knowledge, this is only the second case report of methotrexate being used to treat this disease. A 42-year-old woman presented to us with active skin lesions affecting both axillae, groins and lateral aspect of neck (Fig. 1) that had an ondulant cou...
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of vascular origin. The most important differential diagnoses are angiosarcoma, which expresses endothelial markers such as CD31 and CD34, and chronic expansive hematoma, which presents as an encapsulated tumor filled with blood and neovasculature. What was interesting about this case, apart from the rarity of the condition, was the ease with which a giant vascular eccrine spiradenoma could be ...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 1995
ISSN: 0022-202X
DOI: 10.1111/1523-1747.ep12320741