Results 41 to 50 of about 3,192 (225)
Molecular and clinical studies in five index cases with novel mutations in the GLA gene [PDF]
, 2015 Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X ...
ALESSANDRO, Riccardo +11 more
core +1 more source
Granulomatous mycosis fungoides with hypohidrosis mimicking lepromatous leprosy
Indian Journal of Dermatology, Venereology, and Leprology, 2010 Granulomatous mycosis fungoides (GMF) is a rare type of cutaneous T cell lymphoma. A 38-year-old married male presented with decreased sweating all over the body for last 8 years, progressive redness and scaling over body for 2 years and multiple noduloulcerative lesions over the body for 1 year.
Uday Khopkar +4 more
openalex +4 more sources
Hypohydrotic ectodermal dysplasia: A rare case series
Journal of Pediatric Critical Care, 2018 Hypohydrotic ectodermal dysplasia (HED) is characterized by classical triad of Hypotrichosis (sparseness of scalp and body hair), anhidrosis/hypohidrosis (absence or reduction of sweat glands), and hypodontia/ anodontia (congenital absence of teeth). The
Manisha Goyal +3 more
doaj +1 more source
Neurological complications of Anderson-Fabry disease [PDF]
, 2013 Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females ...
Arnao, Valentina +6 more
core +1 more source
Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease. [PDF]
, 2015 BACKGROUND: We present the case of a white 35-year-old male with a diagnosis of Fabry disease and negative family history. CASE PRESENTATION: At the age of 31, he underwent a renal biopsy with a diagnosis of hypertension-induced nephroangiosclerosis.
Daniele, Aurora +5 more
core +3 more sources
Pathogenesis of Cholinergic Urticaria in Relation to Sweating
Allergology International, 2012 Cholinergic urticaria (CU) has clinically characteristic features, and has been frequently described in the literature. However, despite its comparatively old history, the pathogenesis and classification remains to be clarified.
Toshinori Bito +2 more
doaj +1 more source
Recreating the missing smile: A case report on ectodermal dysplasia
SRM Journal of Research in Dental Sciences, 2012 Ectodermal dysplasia syndrome is a group of hereditary disorders affecting the structures developing from the ectoderm. More than 150 different types have been described with the most common being the hypohidrotic and the hidrotic types.
R Shakila +3 more
doaj +1 more source
Hypohidrotic Ectodermal Dysplasia with total anodontia: a case report [PDF]
, 2011 Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack ...
Sathyajith Naik, N. +3 more
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Clinical and Pathological Findings in Women with Fabry Disease [PDF]
, 2009 Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, located on chromosome X.
Chan, KH +8 more
core +2 more sources
Fabry disease: clinical and genotypic aspects of three cases in first degree relatives [PDF]
, 2014 Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy ...
Badiz, Thais Cardoso De Mello Tucunduva +3 more
core +2 more sources