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27 Possible Causes for Autoamputation of Digits, Congenital Pain Insensitivity

  • Channelopathy-Associated Congenital Insensitivity to Pain

    Congenital pain insensitivity is a rare genetic disorder characterized by the inability to perceive pain.[symptoma.com] Abstract 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[ncbi.nlm.nih.gov] KEYWORDS: AR-HSANs; IL-6; LIFR-altered glycosylation; SWS; congenital pain insensitivity[ncbi.nlm.nih.gov]

  • Familial Dysautonomia

    1型遺伝性感覚性自律神経性ニューロパチー 4型遺伝性感覚性自律神経性ニューロパチー Autosomal Dominant Neuropathy Hereditary Sensory Radicular Congenital Insensitivity to Pain with Anhidrosis Congenital Pain Insensitivity[lsd-project.jp] Anatomic changes in congenital insensitivity to pain: absence of small primary sensory neurons in ganglia, roots and Lissauer's tract.[doi.org] Insensitivity to Pain with Anhidrosis Congenital Sensory Neuropathy 遺伝性感覚・自律神経ニューロパチー 遺伝性感覚ニューロパシー 遺伝性感覚ニューロパチー 遺伝性感覚根性ニューロパチー 遺伝性感覚性ニューロパシー 遺伝性感覚性ニューロパチー 遺伝性感覚性自律神経性ニューロパチー[lsd-project.jp]

  • Lesch Nyhan Syndrome

    insensitivity to pain.[neurology.org] PubMed CrossRef Google Scholar Barone R, Lempereur L, Anastasi M, Parano E, Pavone P (2005) Congenital insensitivity to pain with anhydrosis (NTRK1 mutation) and early onset[link.springer.com] […] features include hyperuricemia, developmental delay, movement disorders, and self-mutilation targeted to the lips, tongue, and digits. 1 The differential diagnosis includes congenital[neurology.org]

  • Lytic Bone Lesion

    , Congenital, Autosomal Recessive Asymbolia For Pain Congenital Analgesia, Autosomal Recessive Insensitivity To Pain, Channelopathy-Associated Neuropathy, Hereditary Sensory[ukgtn.nhs.uk] […] of digits; [Feet]; Acroosteolysis; Acral ulceration leading to autoamputation of digits SKIN, NAILS, HAIR: [Skin]; Hyperhidrosis, episodic; Anhidrosis, patchy; Ulcerations[genome.jp] Later-forming, constricting, fibrous bands appear on the digits and can lead to progressive strangulation and autoamputation.[emedicine.medscape.com]

  • Juvenile Polyp

    insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism, Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin[en.wikipedia.org] Digital examination showed a fresh bleeding without any polyps. The bleeding from the stalk of the autoamputated polyp was suspected.[jstage.jst.go.jp] Congenital Insensitivity to Pain with Anhidrosis Yasuhiro Indo. Initial Posting: August 5, 2008; Last Update: April 17, 2014.[ncbi.nlm.nih.gov]

  • Harlequin Type Ichthyosis

    Although real world X-Men and – women exist, they would never describe their rare diseases as superpowers: Congenital insensitivity to pain (CIPA) You wouldn’t put your hand[hellodoctor.co.za] Letter to the Editor Noteworthy clinical findings of harlequin ichthyosis: digital autoamputation caused by cutaneous constriction bands in a case with novel ABCA12 mutations[doi.org] Of 45 children, 5 developed autoamputation of digits due to constricting skin bands.[doi.org]

  • Hereditary Koilonychia

    […] muscle spasms - See Dwarfism familial with muscle spasms Familial dysautonomia Familial dysautonomia, type 2 - See Congenital insensitivity to pain with anhidrosis Familial[herenciageneticayenfermedad.blogspot.com] Olmsted's syndrome, though similar in presentation with initial patchy PPK becoming diffuse and transgredient later on, spontaneous autoamputation of digits and flexion deformity[jdrntruhs.org] There were no nail changes or contractures or autoamputation of the digits. The face showed scaly slightly erythematous patches on the cheeks and nose.[odermatol.com]

  • Tibia Varum

    Congenital insensitivity to pain Congenital insensitivity (indifference) to pain is a rare syndrome inherited as an autosomal recessive trait.[clinicalgate.com] Insensitivity to Pain - Orthopaedic Implications RS Kuo MF Macnicol J Paediatr Orthop B 1996;5:292-5 Measurement of Periprosthetic Bone Density in Hip Arthroplasty Using[drroderickkuo.com.au] Congenital insensitivity to pain – a variant Dr Anand Rengasamy Trichy Congenital insensitivity to pain is a very rare condition.[posi.in]

  • Ichthyosis Hystrix Gravior

    […] disorder Congenital insensitivity to pain Constitutively active SCNN1B / SCNN1G Liddle's syndrome SCNN1A / SCNN1B / SCNN1G Pseudohypoaldosteronism 1AR Potassium channel Voltage-gated[worldebooklibrary.net] […] of digits Bleeding with minor or no trauma Abnormality of skin pigmentation Freckling Cutaneous photosensitivity Joint contracture of the hand Telangiectasia Neoplasm of[mendelian.co] […] to Pain, Congenital, with Anhidrosis; CIPA OMIM:147530 Insensitivity to Pain with Hyperplastic Myelinopathy OMIM:608747 Insulin-Like Growth Factor I Deficiency OMIM:270450[informatics.jax.org]

  • Dyschondrosteosis-Nephritis Syndrome

    […] without anosmia 4 Congenital hypogonadotropic hypogonadism without anosmia 5 Congenital insensitivity to pain with anhidrosis Congenital nephrotic syndrome type 01 (Finnish[moldiag.com] When these lesions autoamputate, a traumatic neuroma is a known sequel but is less common in those hypoplastic digits, which are surgically excised.[basicmedicalkey.com] […] to pain (congenital, with anhidrosis); Insomnia (fatal familial); Interleukin-2 receptor deficiency (alpha chain); Intervertebral disc disease; Iridogoniodysgenesis; Isolated[ic.gc.ca]

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