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1,125 Possible Causes for Autosomal Dominant, Skin Plaque

  • Ichthyosis Vulgaris

    , characterized by dark-brown scale typical of ichthyosis vulgaris and blaschkolinear, atrophic, scaly plaques.[ncbi.nlm.nih.gov] Abstract Five patients with autosomal dominant ichthyosis vulgaris (ADI) were studied to see whether the abnormal keratinization was associated with disturbances of the appearance[ncbi.nlm.nih.gov] This condition is inherited in an autosomal dominant pattern.[monarchinitiative.org]

  • Cryopyrin-Associated Periodic Syndrome

    Skin biopsy revealed a sparse infiltrate throughout the entire dermis, including the eccrine adventitia.[ncbi.nlm.nih.gov] The disease was inherited as an autosomal dominant trait.[ncbi.nlm.nih.gov] The mode of inheritance is autosomal dominant with variable penetrance.[allergycases.blogspot.com]

  • Ichthyosis

    The dead cells of this horny layer do not slough off at the normal rate but tend instead to adhere to the skin surface to form scales; horny plaques and papules may also be[britannica.com] Ichthyosis vulgaris is the most common ichthyosis, and is inherited in an autosomal dominant pattern.[ncbi.nlm.nih.gov] […] scaly patches and plaques Clinical images Images hosted on other servers: Lamellar ichthyosis Microscopic (histologic) description Increased stratum corneum with loss of[pathologyoutlines.com]

  • Porphyria Cutanea Tarda

    […] of face hyperpigmentation of skin scleroderma-like plaques Non-skin findings no abdominal pain (as in other porphyrias) red-brown urine ( port-wine urine ) from porphyrin[step2.medbullets.com] It is inherited in an autosomal dominant pattern.[genome.gov] […] findings skin fragility erythema, edema, vesicles progressing to non-healing blisters, erosions, ulcers in sun-exposed areas (face, neck, dorsal hands, forearms) hypertrichosis[medbullets.com]

  • Erythropoietic Porphyria

    Scarring of light exposed facial skin areas. Incomplete lid closure. Nasal prosthesis. Figure 2 Patient 1.[bjo.bmj.com] It is inherited in an autosomal dominant pattern.[genome.gov] Do not present with acute attacks Can lead to progressive hepatic impairment Acute intermittent porphyria (AIP) Acute; autosomal dominant inheritance Deficient enzyme: no.[unboundmedicine.com]

  • Amyloidosis

    Skin is a common site of deposition and can manifest as asymptomatic plaques, fissures, or nodules.[bloodjournal.org] dominant hereditary polyneuropathy related to the organ deposition of mutant forms of the transthyretin protein (encoded by mutated TTR ) over time.[nejm.org] BACKGROUND: Hereditary transthyretin amyloidosis is an autosomal dominant inherited disorder, first described in families with sensorimotor and autonomic neuropathy.[ncbi.nlm.nih.gov]

  • Lymphangioleiomyomatosis

    Angiogenesis in TSC Patients with TSC may present with skin lesions such as forehead fibrous plaques, facial angiofibromas, ungual fibromas and Shagreen patches, in addition[doi.org] TSC is an autosomal dominant tumor suppressor gene syndrome characterized by seizures, mental retardation, and tumors in the brain, heart, skin, and kidney.[ncbi.nlm.nih.gov] Pulmonary LAM can occur as an isolated form (sporadic LAM) or in association with tuberous sclerosis complex (TSC) (TSC-LAM), a genetic disorder with autosomal dominant inheritance[doi.org]

  • Papillon Lefevre Disease

    (a) Case 1 presenting with yellowish, keratotic, confluent plaques affecting the skin of palmar surfaces of hands; (b) Case 1 presenting with keratotic plaques on the dorsal[ncbi.nlm.nih.gov] They may be inherited from one affected parent (known as autosomal dominant inheritance) or from both parents, who are generally unaffected (known as autosomal recessive inheritance[dermnetnz.org] Figure 1: Keratotic plaques on the dorsal skin surface of fingers with extension to the palms of the hands.[jofs.in]

  • Cutaneous Amyloidosis

    Haemorrhagic blisters may form following skin trauma such as pinching The most characteristic skin lesions consist of waxy papules, nodules, or plaques.[pcds.org.uk] Thus a new case of familial cutaneous amyloidosis with an autosomal dominant hereditary pattern is described.[ncbi.nlm.nih.gov] A British family is described in which an extremely rare variant was inherited as an autosomal dominant.[ncbi.nlm.nih.gov]

  • Psoriasis

    The most common symptoms are dry, raised, red patches of skin (plaques) covered with silvery scales.[healthdirect.gov.au] Psoriasis is an autosomal dominant trait in some families.[symptoma.com] The main symptom of the condition is irritated, red, flaky plaques of skin. Plaques are most often seen on the elbows, knees, and middle of the body.[nlm.nih.gov]

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