Results 71 to 80 of about 3,826 (210)

Cutaneous manifestations of Fabry disease: A systematic review

open access: yesThe Journal of Dermatology, Volume 52, Issue 4, Page 571-582, April 2025.
Abstract Fabry disease (FD) is a rare X‐linked lysosomal storage disorder resulting in potential debilitating accumulation of glycosphingolipids in organs such as skin, nerves, heart, kidneys, lungs, and the central nervous system. Skin is easily investigated and can guide clinicians to diagnose FD, minimizing delay of enzyme substitution therapy. This
Rami Nabil Al‐Chaer   +4 more
wiley   +1 more source

Differential gene expression analysis in patients with primary hyperhidrosis

open access: yesInternational Journal of Applied and Experimental Biology
Hyperhidrosis, a condition of excessive sweat generation, is believed to be genetic, but it is yet not known well whether primary hyperhidrosis is regulated by a single gene or multiple genes. The prospective genes that regulate primary hyperhidrosis are
Ting Pu   +6 more
doaj   +1 more source

Dermatopathia pigmentosa reticularis

open access: yesIndian Journal of Dermatology, 2019
Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia that presents with a triad of reticulate hyperpigmentation, nonscarring alopecia, and nail dystrophy.
Adrija Datta   +3 more
doaj   +1 more source

Neuroblastoma in a Case with Congenital Horner’s Syndrome

open access: yesTürk Oftalmoloji Dergisi, 2014
Miosis, ptosis, and ipsilateral facial anhidrosis are normally present in Horner’s syndrome. Pathologies which show central, preganglionic and postganglionic residence in sympathetic chain are present in its etiology.
Hüseyin Mayalı   +2 more
doaj   +1 more source

Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis

open access: gold, 2021
Shang Li   +8 more
openalex   +1 more source

The Development of Horner Syndrome following a Stabbing

open access: yesCase Reports in Medicine, 2014
The features of Horner Syndrome are miosis, ptosis, enophthalmos, and anhidrosis on the same side as the etiologic pathology. Its causes include tumours, aneurysms, neck and chest surgery, and neck and chest trauma.
Muhammet Sayan, Ali Çelik
doaj   +1 more source

Recommendations for Aligned Nomenclature of Peripheral Nervous System Disorders Across Rheumatology and Neurology

open access: yes
Arthritis &Rheumatology, Volume 77, Issue 4, Page 383-389, April 2025.
Ghaith Noaiseh   +16 more
wiley   +1 more source

Idiopathic segmental anhidrosis [PDF]

open access: yesQJM: An International Journal of Medicine, 2017
K, Shikino, M, Miyahara, M, Ikusaka
openaire   +2 more sources

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