Results 11 to 20 of about 3,242 (162)

Type 2 Lepra Reaction Following Antituberculosis Treatment Initiation in an Elderly Male With Coexisting Hansen's Disease: A Case Report. [PDF]

Respirol Case Rep
We report a case of a man developing erythema nodosum leprosum after initiating treatment for drug‐susceptible pulmonary tuberculosis. This highlights the importance of recognising concomitant leprosy in patients with tuberculosis since these mycobacterial infections require different long‐term multidrug regimens.
Villanueva CAG, Ortiz YRH, Mojica WP, Albay AB.   +3 more
europepmc   +2 more sources

De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations. [PDF]

J Gene Med
We report a heterozygous missense variant (c.184G〉C, p.Val62Leu) in exon 2 of the TP63 gene in a male patient with ectodermal dysplasia characterized by hypohidrosis, sparse hair, tooth agenesis, cleft lip/palate, hearing loss, and syndactyly. The variant was absent from public databases and unaffected relatives.
Chen J, Xi X, Xu X, Lin Y.
europepmc   +2 more sources

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma. [PDF]

J Dtsch Dermatol Ges
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Cuperus E, van Geel M, Verhoeven VJ, Koudijs SM, Boerman GH, Tjiam AM, van der Lugt NM, Pasmans SG.   +7 more
europepmc   +2 more sources

An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases [PDF]

, 2015
Background:This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw and facial areas radiologically
Akkus, Zeki, Aksoy, Orhan, Callea, Michele, Clarich, Gabriella, Doğan, Mehmet Sinan, Günay, Ahmet, Günay, Ayşe, Güven, Sedat, Maglione, Michele, Yavuz, İzzet   +9 more
core   +2 more sources

Ipsilateral hypohidrosis in brain stem infarction. [PDF]

Stroke, 1993
The brain stem is the most important autonomic processing center, but very little attention has been given to clinical manifestations of autonomic failure in brain stem stroke. Our purpose was to evaluate the prevalence, characteristics, and prognostic significance of sweating dysfunction in brain stem infarctions.
J T, Korpelainen, K A, Sotaniemi, V V, Myllylä   +2 more
openaire   +2 more sources

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations [PDF]

, 2015
BACKGROUND: Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma.
Alan D. Irvine, Albert David, Alice Goldenberg, Antoine Hamel, Armelle Magot, Arnold Munnich, AW Arnold, Bongani M. Mayosi, Brigitte Chabrol, Bruno Eymard, C Grau Salvat, Caroline Kannengiesser, Chantal Bou-Hanna, Christel Thauvin, Christian Laboisse, Christina Ulane, Cécile Méni, Cédric Le Caignec, Dominique Figarella-Branger, Dominique Israël-Biet, Emmanuelle Fleurence, Emmanuelle Salort-Campana, Eve Puzenat, Flora Bréhéret, Florence Caillon, Frances Smith, Genome of the Netherlands C, Grainne M. O’Regan, H Penagos, Irwin McLean, J Lessem, J Os van, J Piard, J Piard, Jacinda B. Sampson, Jean-Marie Mussini, Jean-Yves Mahé, Jeanine Igual, Jeffrey Odel, Julie Perrier, Juliette Piard, Kurenai Tanji, L Larizza, Laurence Faivre, M Meier, MA Simpson, Maeve A. McAleer, Mythily Ganapathi, Nadem Soufir, Nathalie Bodak, Nonhlanhla P. Khumalo, NP Khumalo, PE Weary, Perrine Brunelle, Peter L. Nagy, R McDaniell, Romain Gherardi, Rosemarie M. Watson, S Akamatsu, S Mercier, S Unger, Sandra Mercier, Stuart MacGowan, Stéphane Bézieau, Stéphanie Mallet, Sébastien Barbarot, Sébastien Küry, T Kindler, Thomas Besnard, U Otsu, Uchenna Agbim, Valérie Cormier-Daire, Yann Péréon   +72 more
core   +5 more sources

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, Chu, ACY, Ho, JWM, Ho, PWL, Ho, SL, Kung, MHW, Kwok, KHH, Liu, HF, Ramsden, David   +8 more
core   +2 more sources

Ulcerative Lesion of the Ileocecal Region in a Patient With Immunodeficiency. [PDF]

J Gastroenterol Hepatol
Journal of Gastroenterology and Hepatology, Volume 40, Issue 6, Page 1345-1347, June 2025.
Kinoshita N, Kakimoto K, Kaji E, Mizuta N, Numa K, Nakazawa K, Koshiba R, Hirata Y, Miyazaki T, Nakamura S, Nishikawa H.   +10 more
europepmc   +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, Enokihara, Milvia Maria Simoes E Silva, Porro, Adriana Maria, Silva, Leticia Bueno Nunes Da   +3 more
core   +2 more sources

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., Shashibhushan, K.K., Subba Reddy, V.V., Viswanathan, Revathy   +3 more
core   +1 more source