Results 91 to 100 of about 86,700,063 (188)

Congenital Insensitivity to Pain with Anhidrosis: A Case Report. [PDF]

Cureus, 2023
Sulaiman NM, Alyahya E.
europepmc   +1 more source

Homozygous mutations in NTRK1 gene underlie congenital insensitivity to pain with anhidrosis in Pakistani families

, 2016
Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder presenting with loss of pain sensation, thermal sensation defects, and self-mutilating behavior.
Azhanie Sardangi
core   +1 more source

Unexplained oral and extremity ulcerations in an infant

JAAD Case Reports, 2021
Kristen Russomanno, MD, Ashley DiLorenzo, MD, Kara Simpson, MS, Seth Berger, MD, PhD, Kaiane Habeshian, MD   +4 more
doaj   +1 more source

Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report

Journal of Medical Case Reports
Background Klippel–Feil syndrome is a rare congenital bone disorder characterized by an abnormal fusion of two or more cervical spine vertebrae.
Zeeshan Ullah, Ayesha Zafar, Hira Ishaq, Zainab Umar, Amir Khan, Yaseen Badar, Nizamud Din, Muhammad Fawad Khan, Pamela McCombe, Nemat Khan   +9 more
doaj   +1 more source

Congenital insensitivity to pain with anyhydrosis: morphological studies of skin and peripheral nerves

The Turkish Journal of Pediatrics, 1989
Two male siblings born to consanguineous parents, with the diagnosis of congenital insensitivity to pain with anhydrosis are evaluated. The patients presented with unexplained bouts of fever, self-mutilation, repeated trauma and inability to sweat.
R Eker, M Y Apak, T Erbengi, S Apak, M Ozmen   +4 more
doaj  

A Case of Generalized Xerotic Eczema in a Patient with Congenital Insensitivity to Pain with Anhidrosis. [PDF]

Ann Dermatol, 2023
Hong EJ, Yoon HJ, Lee SH, Park YL, Lee S.   +4 more
europepmc   +1 more source

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. [PDF]

Brain, 2023
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I.   +81 more
europepmc   +1 more source

Orthopaedic manifestations of congenital insensitivity to pain [PDF]

Journal of the Royal Society of Medicine, 2001
S, Karmani, R, Shedden, C, De Sousa
openaire   +2 more sources

Catecholamines and congenital pain insensitivity.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica, 1985
The congenital pain insensitivity syndrome is accompanied by: a) the presence of a yellow-brown pigment in the basal layer of the epidermis with the histochemical properties of melanin, b) decrease of urinary and blood concentration of dopamine and norepinephrine, c) excretion of melanin and of an abnormal as yet unidentified phenolic metabolite, d ...
I, Raw, B J, Schmidt, J, Merzel
openaire   +1 more source

Impact of the coronavirus pandemic on families of patients with congenital insensitivity to pain with anhidrosis. [PDF]

Pediatr Int, 2023
Kubota M, Haga N.
europepmc   +1 more source