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Diseases and injuries

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Acquired factor XIII deficiency

Acquired factor XIII deficiency (aFXIII, ORPHA:599513) is a rare bleeding disorder from FXIII autoantibodies or consumption/underproduction, with normal PT/aPTT, treated with FXIII concentrate plus immunosuppression.

Acquired generalized lipodystrophy

Acquired generalized lipodystrophy, also known as Lawrence syndrome, is a rare disorder in which body fat is progressively lost after birth, causing severe insulin resistance and diabetes.

Acquired hallux valgus

Acquired hallux valgus (bunion) is a progressive adult forefoot deformity with lateral great-toe deviation and medial first metatarsal head prominence; treated first conservatively for about three months, then surgically if symptomatic.

Acquired hearing impairment

Acquired hearing impairment (ICD-11 AB51) is hearing loss arising after language acquisition, not present at birth, from disease, trauma, or medicines. Covers conductive, sensorineural, and mixed types, causes, prevalence, screening, and rehabilitation.

Acquired hemophilia A

Acquired haemophilia (acquired hemophilia A) is a rare bleeding disorder from autoantibodies against factor VIII in people with no bleeding history; affects the elderly and postpartum women, treated with bypassing agents and immunosuppression.

Acquired hemophilia B

Acquired hemophilia B (AHB, acquired factor IX deficiency, ORPHA:599485) is an extremely rare autoimmune bleeding disorder caused by anti-factor IX autoantibodies, diagnosed by prolonged aPTT, mixing study, and Bethesda assay, and treated with bypassing agents and immunosuppression.

Acquired hypermelanosis

Acquired hypermelanosis (ICD-11 ED60) is increased skin melanin from disease, UV radiation, hormones, drugs, or inflammation. Subtypes include melasma, postinflammatory hypermelanosis, and acquired dermal macular hyperpigmentation (LPP, EDP, Riehl's melanosis).

Acquired hypothalamic obesity

Acquired hypothalamic obesity (aHO): rapid, persistent weight gain from hypothalamic damage, usually craniopharyngioma, surgery, radiation, or brain injury, disrupting leptin–MC4R satiety signaling; treated with setmelanotide.

Acquired hypothyroidism

Acquired hypothyroidism (ICD-11 5A00.2) is thyroid hormone deficiency arising after birth, mainly from autoimmune thyroiditis or iodine deficiency, treated with levothyroxine monotherapy dosed to normalize serum TSH.

Acquired ichthyosis

Acquired ichthyosis, secondary or paraneoplastic ichthyosis, is a rare nonhereditary adult-onset scaling skin disorder linked to Hodgkin lymphoma, HIV, hypothyroidism, sarcoidosis, malabsorption, and drugs, resolving when the cause is treated.

Acquired methemoglobinemia

Acquired methemoglobinemia, also called acquired methaemoglobinaemia, is drug- or toxin-induced oxidation of hemoglobin iron to Fe3+, causing non-oxygen-carrying methemoglobin; leading causes are benzocaine, dapsone, and nitrites, treated with methylene blue.

Acquired optic atrophy

Acquired optic atrophy, ICD-11 9C40.B1, is postnatal death of retinal ganglion cell axons causing a pale optic disc and vision loss, from glaucoma, ischemia, compression, inflammation, infection, toxins, or trauma.

Acquired palmoplantar keratodermas

Acquired palmoplantar keratodermas (ICD-11 ED55.0) are non-inherited thickening of palm and sole skin caused by dermatoses, infections, drugs, chemicals, systemic disease, malnutrition, or malignancy; more common than hereditary PPK.

Acquired partial lipodystrophy

Acquired partial lipodystrophy (Barraquer-Simons syndrome, APL): rare acquired lipoatrophy of face, neck, and upper body sparing legs, with low C3, C3 nephritic factor, and MPGN risk.

Acquired perforating dermatosis

Acquired perforating dermatosis (APD), also called acquired reactive perforating collagenosis, is an itchy perforating skin disorder with transepidermal elimination of collagen or elastic fibers, occurring mainly in chronic renal failure and diabetes mellitus patients, including dialysis populations.

Acquired pes planus

Acquired pes planus, or adult-acquired flatfoot deformity (AAFD), renamed progressive collapsing foot deformity, is adult collapse of the medial arch, usually from posterior tibial tendon dysfunction, staged I to IV and treated first with bracing, then surgery.

Acquired platelet function disorders

Acquired platelet function disorders are non-inherited conditions in which platelets fail to work properly, most often caused by uremia, kidney failure, or drugs such as aspirin.

Acquired poikiloderma

Acquired poikiloderma, also called poikiloderma of Civatte in its commonest actinic form, is a mottled skin pattern of atrophy, telangiectasia, and pigment change caused by sun, radiation, infection, or inflammatory and malignant disease.

Acquired prothrombin deficiency

Acquired prothrombin deficiency (acquired hypoprothrombinemia, ORPHA:26348) is a rare bleeding disorder with low factor II levels caused by vitamin K deficiency, severe liver disease, warfarin, lupus anticoagulant, or infection, treated with plasma, factor concentrates, or vitamin K.

Acquired pseudoxanthoma elasticum

Acquired pseudoxanthoma elasticum (acquired PXE, acquired Groenblad-Strandberg-Touraine syndrome) is a rare acquired skin disorder mimicking inherited PXE without ABCC6 mutations, linked to liver transplantation, penicillamine, or beta-thalassemia.

Acquired purpura fulminans

Acquired purpura fulminans (post-infectious or idiopathic purpura fulminans) is a rapidly progressive thrombotic skin emergency with DIC and skin necrosis, occurring as acute infectious or post-infectious autoantibody-mediated forms after infections such as varicella and meningococcal sepsis.

Acquired sensorineural hearing loss

Acquired sensorineural hearing loss (ICD-11 AB51.1) is postnatal hearing loss from inner ear, vestibulocochlear nerve, or central causes; main forms are age-related, noise-induced, drug-induced, and sudden SNHL, treated with hearing aids or cochlear implants.

Acquired thrombocytopenia

Acquired thrombocytopenia (ICD-11 3B64.1) is a low platelet count developing after birth, from decreased production, immune or consumptive destruction, sequestration, or dilution; drug-induced immune thrombocytopenia, HIT, and drug-induced TMA are principal acquired forms.

Acquired thrombophilia

Acquired thrombophilia is a tendency to abnormal blood clotting that develops during life, rather than being inherited, from conditions such as cancer, pregnancy, estrogen therapy, or nephrotic syndrome.

Acquired von Willebrand syndrome

Acquired von Willebrand syndrome (AVWS, aVWS) is a rare, non-inherited bleeding disorder from acquired VWF defects, mostly due to lymphoproliferative, myeloproliferative, or cardiovascular disease, with low VWF activity-to-antigen ratios and loss of high-molecular-weight multimers.

Acral lentiginous melanoma

Acral lentiginous melanoma (ALM), also called acral melanoma, is a rare melanoma subtype of palms, soles, and nail units, UV-independent, most common in darker-skinned populations, with low mutation burden and poor survival.

Acral peeling skin syndrome

Acral peeling skin syndrome (APSS, peeling skin syndrome 2, OMIM 609796) is a rare autosomal recessive disorder causing painless superficial peeling of hand and foot skin, usually from TGM5 mutations.

Acral persistent papular mucinosis

Acral persistent papular mucinosis (APPM), a rare subtype of localized lichen myxedematosus, causes 2–5 mm flesh-colored papules on the backs of hands, wrists, and distal forearms; benign, skin-limited, female-predominant, no systemic links.

Acral self-healing collodion baby

Acral self-healing collodion baby (ASHCB, ORPHA:281127) is an extremely rare ARCI variant where a collodion membrane at birth is limited to hands and feet, sheds in weeks, and leaves normal skin; linked to TGM1 mutations.

Acrania

Acrania: congenital absence of the fetal cranial vault and overlying skin with exposed brain tissue; first stage of the acrania–exencephaly–anencephaly sequence, lethal, detectable by ultrasound from about 11 weeks.