The management of self-inflicted lesions requires an understanding of the dynamics of the act of self-mutilation. The overview of practical techniques allows the non-psychiatrist physician to deal with self-inflicted disorders more effectively. The efficacy of behavioral and psychotherapeutic techniques is enhanced when combined with psychopharmaca.
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http://dx.doi.org/10.2190/8F2Y-R3RN-MKW8-A5GF | DOI Listing |
Diagnostics (Basel)
December 2024
Department of Pediatrics, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Background: Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the gene, resulting in hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Early diagnosis is critical for optimizing management and improving outcomes. This study presents a case series of three Taiwanese patients diagnosed at a single medical center.
View Article and Find Full Text PDFCongenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder because of NTRK1 gene mutations, leading to an inability to perceive pain and temperature and lack of sweating. Its rarity and unique clinical challenges, such as severe injuries from the inability to sense pain, make reporting cases critical. A 5-year-old boy, the third child of consanguineous parents, was referred for a fractured femur.
View Article and Find Full Text PDFMol Genet Genomic Med
October 2024
Division of Hematology/Oncology, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.
Background: Congenital insensitivity to pain with anhidrosis (CIPA) (OMIM 256800) is a rare autosomal-recessive condition, also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV). The most commonly reported features include anhidrosis, intellectual disability, self-mutilation, febrile episodes, impaired temperature perception, recurrent infections and/or autonomic nervous system impairment. Major joint destruction and joint deformity known as Charcot (neuropathic) joints are also seen in CIPA patients attributed to insensitivity to joint pain.
View Article and Find Full Text PDFAnim Genet
December 2024
Institut de Génétique et Développement de Rennes (IGDR) - UMR6290, CNRS, Université de Rennes, Rennes, France.
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