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1,982 Possible Causes for Autoamputation of Digits, Epidermolysis Bullosa, Syndactyly Does Not Occur

  • Herlitz Disease

    What is Herlitz Junctional Epidermolysis Bullosa, LAMB3-related?[] Martin Carter Springer Science & Business Media , ٠٦‏/١٢‏/٢٠١٢ - 302 من الصفحات Because skin blisters are the initial manifestation of epidermolysis bullosa (EB), patients[] These findings supported a diagnosis of junctional epidermolysis bullosa. The patient was treated with topical and systemic antibiotics.[]

    Missing: Autoamputation of Digits
  • Adhesion of Amnion to Fetus

    The cutaneious syndactyly seen usually does not involve underlying bony fusion. A strong relationship between ABS and clubfoot exists.[] In rare situations, it may be associated with: Ehlers-Danlos syndrome epidermolysis bullosa There is a massive spectrum of abnormalities, depending on which part becomes entrapped[] A 31.5% incidence of associated clubfoot deformity and ABS can be correlated with 20% occurring bilaterally.[]

  • Erythema Palmaris Hereditarium

    Olmsted's syndrome, though similar in presentation with initial patchy PPK becoming diffuse and transgredient later on, spontaneous autoamputation of digits and flexion deformity[] bullosa Junctional epidermolysis bullosa inversa Junctional epidermolysis bullosa, generalized intermediate Junctional epidermolysis bullosa, generalized severe Junctional[] This is followed by the development of constricting bands of the digits during early childhood, which may lead to digital autoamputation, i.e. pseudoainhum.[]

    Missing: Syndactyly Does Not Occur
  • Aplasia Cutis Congenita

    Figure 1 Right hand showing constriction rings with persistent dark fibrous band around fingers digits, associated with distal partial autoamputation.[] bullosa Med Cutan Iber Lat Am 2013; 41 (5) Language: Español References: 14 Page: 218-222 PDF: 667.73 Kb.[] BACKGROUND: Aplasia cutis congenita (ACC) has been associated with all clinical forms of inherited epidermolysis bullosa (EB), including dominant and recessive dystrophic[]

    Missing: Syndactyly Does Not Occur
  • Ichthyosis Hystrix Gravior

    […] of digits Bleeding with minor or no trauma Abnormality of skin pigmentation Freckling Cutaneous photosensitivity Joint contracture of the hand Telangiectasia Neoplasm of[] bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex of Ogna plakophilin : Skin fragility syndrome Arrhythmogenic right ventricular dysplasia 9 centrosome[] 37 %) Junctional Epidermolysis Bullosa Gravis (37 %) ( Epidermolysis Bullosa Letalis, Herlitz Disease, Herlitz Epidermolysis Bullosa, Herlitz Syndrome, Lethal Junctional Epidermolysis[]

    Missing: Syndactyly Does Not Occur
  • Congenital Leukonychia

    The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes ( Olmsted, 1927 ).[] Bullosa Simplex with Nail Dystrophy Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation External Ophthalmoplegia, Synergistic Divergence, Jaw[] bullosa Q81.0 Epidermolysis bullosa simplex Excludes: Cockayne's syndrome ( Q87.1 ) Q81.1 Epidermolysis bullosa letalis Herlitz' syndrome Q81.2 Epidermolysis bullosa dystrophica[]

    Missing: Syndactyly Does Not Occur
  • Dyschondrosteosis-Nephritis Syndrome

    When these lesions autoamputate, a traumatic neuroma is a known sequel but is less common in those hypoplastic digits, which are surgically excised.[] BULLOSA Simplex - Mottled-Hyperpigmentation - KRT5 gene - EPIDERMOLYSIS BULLOSA Simplex - Weber-Cockayne - KRT5 gene - EPIDERMOLYSIS BULLOSA Simplex - Dowling-Meara - KRT5[] bullosa Kell isoimmunization Kennedy disease Krabbe disease L1 syndrome L-aromatic amino acid decarboxylase deficiency Larsen syndrome LCHADD Leber congenital amaurosis Leigh[]

    Missing: Syndactyly Does Not Occur
  • Palmoplantar Keratosis

    The thick keratoderma led to flexion deformities and autoamputation of the digits.[] , oral mucosal involvement Epidermolysis bullosa dystrophica Epidermolysis bullosa letalis Epidermolysis bullosa pruriginosa Epidermolysis bullosa simplex Epidermolysis bullosa[] Later, constricting, fibrous bands appear on the digits and can lead to progressive strangulation and autoamputation.[]

    Missing: Syndactyly Does Not Occur
  • Erythropoietic Porphyria

    The skin biopsy findings were consistent with epidermolysis bullosa.[] […] above dermal-epidermal junction at the ultrastructural level Junctional epidermolysis bullosa (JEB) LAMA3 LAMB3 LAMC2 COL17A1 AR Fragility of skin & mucous membranes, manifest[] bullosa simplex (EBS) KRT5 KRT14 AD 4 Fragility of skin resulting in nonscarring blisters caused by little/no trauma Major & minor subtypes share common feature of blistering[]

    Missing: Syndactyly Does Not Occur
  • Diffuse Palmoplantar Keratoderma

    Vohwinkel syndrome: In this autosomal dominant form, patients may also develop digital autoamputation and high-frequency hearing loss.[] Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L in the V1 domain[] […] bands, leading to autoamputation; treated by regular hyperkeratosis reduction, keratolytic ointments (e.g. 5–10% salicylic acid in white soft paraffin) and oral retinoids[]

    Missing: Syndactyly Does Not Occur

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