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Diencephalic-Mesencephalic Junction Dysplasia
Orphanet
Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip).
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Autism Spectrum Disorder Due To Auts2 Deficiency
Orphanet
A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities).
- Acinar Cell Carcinoma Of Pancreas Orphanet
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Neonatal Toxic Shock-Like Exanthematous Disease
Wikipedia
Neonatal toxic shock-like exanthematous disease Specialty Dermatology Neonatal toxic shock-like exanthematous disease is a cutaneous condition characterized by a generalized diffuse macular erythema or morbilliform eruption with confluence. [1] See also [ edit ] Staphylococcal scalded skin syndrome List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
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Lipoic Acid Biosynthesis Defects
Gard
LIPT1 deficiency resulted in early death in one patient and in a less severely affected individual with a Leigh-like syndrome clinical features. In DLD gene deficiency the clinical features are very varied depending on which of the affected enzymes is most rate limiting.
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Non-Distal Trisomy 10q
Orphanet
Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly).
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Axial Mesodermal Dysplasia Spectrum
Orphanet
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence.
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Ulna And Fibula, Hypoplasia Of
Omim
This disorder could be allelic to dyschondrosteosis (127300) which is thought to represent the heterozygous state of Langer mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type (249700). Also see Nievergelt syndrome (163400). Limbs - Hypoplastic ulna - Hypoplastic fibula - Abnormal radius - Abnormal tibia Growth - Short-limb dwarfism identifiable at birth Inheritance - Autosomal dominant - ?
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Retinitis Pigmentosa Inversa With Deafness
Omim
Reinstein and Chalfin (1971) reported a syndrome of inverse retinitis pigmentosa (predominant pigmentation around the disc and macula), hypogenitalism, and sensorineural deafness in 2 sisters and a brother, offspring of first-cousin Ashkenazi parents.
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Trichoepitheliomas, Multiple Desmoplastic
Omim
This disorder is distinct from the inherited syndrome of multiple trichoepitheliomas, also referred to as epithelioma adenoides cysticum of Brooke (601606).
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Factor Ix And Factor Xi, Combined Deficiency Of
Omim
In the second family, an 8-year-old boy with Down syndrome had factor IX levels (29-45%) higher than observed in hemophilia B.
- Ocular Motor Apraxia, Cogan Type Orphanet
- Autosomal Dominant Polycystic Kidney Disease Type 1 With Tuberous Sclerosis Orphanet
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X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness
Orphanet
This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.
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Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Orphanet
This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.
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Lymphatic Filariasis
Gard
A small percentage of people develop lymphedema , which may affect the legs, arms, breasts, and genitalia; bacterial infections that cause hardening and thickening of the skin, called elephantiasis; hydrocele (swelling of the scrotum) in men; and pulmonary tropical eosinophilia syndrome . Treatment may include a yearly dose of medicine, called diethylcarbamazine (DEC); while this drug does not kill all of the adult worms, it prevents infected people from giving the disease to someone else.
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Morgellons
Wikipedia
Skin disease of unknown pathology Morgellons Pseudomedical diagnosis Risks Nocebo This article is part of a series on Alternative medicine General information Alternative medicine Alternative veterinary medicine Quackery (Health fraud) History of alternative medicine Rise of modern medicine Pseudoscience Antiscience Skepticism Skeptical movement National Center for Complementary and Integrative Health Terminology of alternative medicine Therapeutic nihilism Fringe medicine and science Acupressure Acupuncture Alkaline diet Anthroposophic medicine Apitherapy Applied kinesiology Aromatherapy Auriculotherapy Bates method Black salve Bodywork Bonesetter Bowen technique Breathwork Fake COVID-19 treatments Cancer treatments Charcoal cleanse Chiropractic Chiropractic treatment techniques Vertebral subluxation Christian Science Chromotherapy Colon cleansing Coffee enema Colorpuncture Colloidal silver Craniosacral therapy Crystal healing Cupping therapy Dental amalgam controversy Detoxification Foot detox Ear candling Energy medicine Esoteric energy Therapeutic touch Fabunan Antiviral Injection Facilitated communication Feldenkrais Method Functional medicine Hair analysis Herbal medicine Holistic dentistry Hologram bracelet Homeopathy Bach flower remedies Biological terrain assessment Hypnotherapy Iridology Ionized jewelry Jilly Juice Lightning Process Lymphotherapy Medical intuitive Mesmerism Magnet therapy Manual therapy Megavitamin therapy Mind–body interventions MMS Myofascial release NAET Naturopathy Oil pulling Orgone Orthomolecular medicine Orthopathy Osteomyology Osteopathy Ozone therapy Parapsychology Phrenology Psychic surgery Psychodermatology Radionics Rapid prompting method RBOP Reiki Reflexology Rolfing Scientific racism ThetaHealing Thought Field Therapy Urophagia Vaginal steaming Vision therapy Vitalism Young blood transfusion Zero balancing Conspiracy theories ( list ) Big Pharma conspiracy theory HIV/AIDS denialism OPV AIDS hypothesis Anti-vaccination Vaccines and autism MMR vaccine and autism Water fluoridation controversy GMO conspiracy theories Misinformation related to the COVID-19 pandemic Classifications Alternative medical systems Mind–body intervention Biologically-based therapy Manipulative methods Energy therapy Traditional medicine African Muti Southern Africa Ayurveda Ayurvedic acupressure Dosha Maharishi Vedic Approach to Health Balneotherapy Brazilian Bush medicine Cambodian Chinese Blood stasis Chinese herbology Dit Da Gua sha Gill plate trade Meridian Moxibustion Pressure point Qi San Jiao Tui na Zang-fu Chumash Curandero Faith healing Iranian Jamu Kambo Japanese Korean Mien Shiang Mongolian Prophetic medicine Shamanism Shiatsu Siddha Sri Lankan Thai massage Tibetan Unani Vietnamese Diagnoses Adrenal fatigue Aerotoxic syndrome Candida hypersensitivity Chronic Lyme disease Electromagnetic hypersensitivity Heavy legs Leaky gut syndrome Multiple chemical sensitivity Wilson's temperature syndrome v t e Morgellons ( / m ɔːr ˈ ɡ ɛ l ə n z / ) is the informal name of a self-diagnosed, scientifically unsubstantiated skin condition in which individuals have sores that they believe contain fibrous material. [1] [2] Morgellons is not well understood, but the general medical consensus is that it is a form of delusional parasitosis . ... Fred Heldrich, a Johns Hopkins pediatrician with a reputation "for solving mystery cases", examined Leitao's son. [4] Heldrich found nothing abnormal about the boy's skin, and wrote to the referring physician that "Leitao would benefit from a psychiatric evaluation and support", and registered his worry about Leitao's "use" of her son. [4] Leitao last consulted an unnamed Johns Hopkins infectious disease specialist who, after reviewing her son's records refused to see him, suggesting Leitao herself might have " Munchausen's by proxy , a psychiatric syndrome in which a parent pretends a child is sick or makes him sick to get attention from the medical system". [5] According to Leitao, several medical professionals she sought out shared this opinion of a potential psychological disorder: [13] [Leitao] said she long ago grew accustomed to being doubted by doctors whenever she sought help for her son, who is now 7 and still suffering from recurring lesions. ... Dermatologist Caroline Koblenzer specifically faults the Morgellons Research Foundation (MRF) website for misleading people: "Clearly, as more and more of our patients discover this site (MRF), there will be an ever greater waste of valuable time and resources on fruitless research into fibers, fluffs, irrelevant bacteria, and innocuous worms and insects." [37] A 2005 Popular Mechanics article stated that Morgellons symptoms are well known and characterized in the context of other disorders, and that "widespread reports of the strange fibers date back" only a few years to when the MRF first described them on the Internet. [38] The Los Angeles Times , in an article on Morgellons, notes that "[t]he recent upsurge in symptoms can be traced directly to the Internet, following the naming of the disease by Mary Leitao, a Pennsylvania mother". [34] In 2008, The Washington Post reported that Internet discussions about Morgellons include many conspiracy theories about the cause, including biological warfare , nanotechnology , chemtrails and extraterrestrial life . [7] The Atlantic says it "even received pop-culture attention" when it was featured on Criminal Minds , adding that "Morgellons patients have further alienated themselves from the mainstream medical community" by "linking Morgellons to another illness viewed skeptically by most doctors, chronic Lyme disease , and by attacking those who doubt their condition". [39] Jay Traver Jay Traver (1894–1974), a University of Massachusetts entomologist , was known for "one of the most remarkable mistakes ever published in a scientific entomological journal", [40] after publishing a 1951 account of what she called a mite infestation [41] which was later shown to be incorrect, [40] and that has been described by others as a classic case of delusional parasitosis as evidenced by her own detailed description. [42] [43] [44] [45] Matan Shelomi argues that the historical paper should be retracted because it has misled people about their delusion. [44] He says the paper has done "permanent and lasting damage" to people with delusional parasitosis, "who widely circulate and cite articles such as Traver's and other pseudoscientific or false reports" via the internet, making treatment and cure more difficult. [44] See also Culture-bound syndrome Formication Fringe medicine List of topics characterized as pseudoscience Mass psychogenic illness Matchbox sign Medicalization Münchausen syndrome Quaternary prevention Somatic symptom disorder References ^ a b Vulink, NC (August 23, 2016). ... American Entomologist . 46 (1): 17–25. doi : 10.1093/ae/46.1.17 . ^ Hinkle NC (June 2011). "Ekbom syndrome: a delusional condition of "bugs in the skin " " (PDF) . ... Skeptoid . v t e Pseudoscience Terminology Cargo cult science Charlatan Crank Fringe theory Fringe science Pseudoarchaeology Pseudohistory Junk science Paranormal Pathological science Quackery Snake oil Crocodile oil Superseded scientific theory True-believer syndrome Voodoo Science Topics characterized as pseudoscience 2012 phenomenon Acupuncture Adrenal fatigue Alchemy Alternative medicine Ancient astronauts Anthroposophic medicine Applied kinesiology Aquatic ape hypothesis Astrology Bates method Biodynamic agriculture Biorhythms Bloodletting Body memory Catastrophism Chiropractic Chromotherapy Conspiracy theory 5G conspiracy 9/11 conspiracy theories Chemtrail conspiracy theory Climate change denial Misinformation related to the COVID-19 pandemic Moon landing conspiracy theories Conversion therapy Correactology Creation science Cryonics Cryptozoology Crystal healing Cupping Detoxification Colon cleansing Dianetics Doctrine of signatures Doktor Koster's Antigaspills Dowsing Ear candling Electromagnetic hypersensitivity Electronic voice phenomenon Eugenics Facilitated communication Feng shui Flat Earth theory Germ theory denialism Graphology HIV/AIDS denialism Hollow Earth theory Homeopathy Humorism Indigo children Intelligent design Japhetic theory Levitation Lunar effect Lysenkoism Magnet therapy Mediumship Miracle Mineral Supplement Naturopathy Nazi archaeology Nibiru cataclysm Numerology Orgone Palmistry Panchagavya Patent medicine Perpetual motion Phrenology Polygraph Primal therapy Pseudoarchaeology Pseudohistory Genocide denial Historical negationism Holocaust denial Pseudoscientific metrology Psychohistory Quantum mysticism Rapid prompting method Recovered-memory therapy Reiki Scientific racism Aryan race Melanin theory Statement analysis Trepanning Ufology Vertebral subluxation Voice stress analysis Water memory Promoters of pseudoscience Sucharit Bhakdi Deepak Chopra Gaia, Inc.
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Ovarian Cyst
Wikipedia
Constitutional symptoms such as fatigue , headaches Nausea or vomiting Weight gain Other symptoms may depend on the cause of the cysts: [4] Symptoms that may occur if the cause of the cysts is polycystic ovarian syndrome (PCOS) may include increased facial hair or body hair , acne , obesity and infertility . ... Polycystic ovarian syndrome involves the development of multiple small cysts in both ovaries due to an elevated ratio of leutenizing hormone to follicle stimulating hormone , typically more than 25 cysts in each ovary, or an ovarian volume of greater than 10 mL. [14] Larger bilateral cysts can develop as a result of fertility treatment due to elevated levels of HCG , as can be seen with the use of clomifene for follicular induction, in extreme cases resulting in a condition known as ovarian hyperstimulation syndrome . [15] Certain malignancies can mimic the effects of clomifene on the ovaries, also due to increased HCG , in particular gestational trophoblastic disease . ... PMID 24327552 . ^ Durbin KL, Diaz-Montes T, Loveless MB (2011). "Van wyk and grumbach syndrome: An unusual case and review of the literature". ... "Definition and significance of polycystic ovarian morphology: a task force report from the Androgen Excess and Polycystic Ovary Syndrome Society" . Human Reproduction Update . 20 (3): 334–52. doi : 10.1093/humupd/dmt061 . ... S2CID 36836406 . ^ Suzuki, H; Matsubara, S; Uchida, S; Ohkuchi, A (October 2014). "Ovary hyperstimulation syndrome accompanying molar pregnancy: case report and review of the literature".
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Synkinesis
Wikipedia
In congenital cases, mutations of genes involved in nerve growth, specifically axonal growth have been found. Rarely, it occurs as part of syndromes with neuroendocrine problems, such as Kallman syndrome . ... Synkinesis can also involve the upper limbs, especially hands which is quite rare, at 1 case in 1 million. [1] In some cases, nerves improperly regenerate into glands, such as lacrimal glands , leading to a condition known as crocodile tears or Bogorad's syndrome . Facial synkinesis [ edit ] Facial synkinesis is a common sequela to Idiopathic Facial Nerve Paralysis , also called Bell's Palsy or Facial Palsy. [2] Bell's Palsy, which is thought to occur due to a viral reactivation which can lead (through unknown mechanisms) to diffuse axon demyelination and degeneration of the seventh cranial nerve, results in a hemifacial paralysis due to non-functionality of the nerve. ... It can also develop in the course of Parkinson's disease. [1] In association with other abnormalities, mirror hand movements are a hallmark of Kallmann syndrome . Genetic mutations associated with (congenital) mirror hand movements are in the DCC (gene) or RAD51 gene, which account for about 35 percent of cases. [1] In DCC mutation, impaired or missing netrin 1 receptor protein impairs control of axon growth during nervous system development. [1] Causes [ edit ] Almost all cases of synkinesis develop as a sequel to nerve trauma. (The exception is when it is congenitally acquired as in Duane-Retraction Syndrome and Marcus Gunn phenomenon .) Trauma to the nerve can be induced in cases such as surgical procedures, nerve inflammation, neuroma , [12] and physical injury. [7] Mechanism [ edit ] There are three proposed mechanisms for synkinesis: aberrant nerve regeneration, interneuronal ephaptic transmission, and nuclear hyperexcitability. ... More notable is that in a majority of patients, various synkinetic movements completely disappeared after 2-3 sessions of trimonthly Botox injections. [25] A more specific synkinesis, crocodile tears syndrome (hyperlacrimation upon eating), has been shown to respond exceedingly well to Botox injection.
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Lipoma
Wikipedia
Other risk factors for liposarcoma include large size (>5 cm), associated with calcification , rapid growth, and/or invasion into nearby structures or through fascia into muscle tissue . [35] Epidemiology [ edit ] Around 2% of the general population has a lipoma. [2] These tumors can occur at any age, but are most common in middle age, often appearing in people from 40 to 60 years old. [24] Cutaneous lipomas are rare in children, but these tumors can occur as part of the inherited disease Bannayan-Zonana syndrome . [36] [37] Lipomas are usually relatively small with diameters of about 1–3 cm, [38] but in rare cases they can grow over several years into "giant lipomas" that are 10–20 cm across and weigh up to 4–5 kg. [39] [40] Other animals [ edit ] Lipomas occur in many animals, but are most common in older dogs, particularly older Labrador Retrievers, Doberman Pinschers, and Miniature Schnauzers. [41] Overweight female dogs are especially prone to developing these tumors, and most older or overweight dogs have at least one lipoma. [42] [43] In dogs, lipomas usually occur in the trunk or upper limbs. [41] They are also found less commonly in cattle and horses, and rarely in cats and pigs. [43] [44] However, a pedunculated lipoma can cause entrapment and torsion of the intestine in horses, causing necrosis, colic, and possibly death. ... "Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome". J. Pediatr. Surg . 41 (9): 1601–3. doi : 10.1016/j.jpedsurg.2006.05.013 . PMID 16952599 . ^ Gujrati M, Thomas C, Zelby A, Jensen E, Lee JM (August 1998). "Bannayan-Zonana syndrome: a rare autosomal dominant syndrome with multiple lipomas and hemangiomas: a case report and review of literature". ... External links [ edit ] Classification D ICD - 10 : D17 ( ILDS D17.910) ICD - 9-CM : 214 ICD-O : M8850/0 MeSH : D008067 DiseasesDB : 7493 External resources MedlinePlus : 003279 eMedicine : med/2720 derm/242 Patient UK : Lipoma Wikimedia Commons has media related to Lipomas . v t e Diseases of the skin and appendages by morphology Growths Epidermal Wart Callus Seborrheic keratosis Acrochordon Molluscum contagiosum Actinic keratosis Squamous-cell carcinoma Basal-cell carcinoma Merkel-cell carcinoma Nevus sebaceous Trichoepithelioma Pigmented Freckles Lentigo Melasma Nevus Melanoma Dermal and subcutaneous Epidermal inclusion cyst Hemangioma Dermatofibroma (benign fibrous histiocytoma) Keloid Lipoma Neurofibroma Xanthoma Kaposi's sarcoma Infantile digital fibromatosis Granular cell tumor Leiomyoma Lymphangioma circumscriptum Myxoid cyst Rashes With epidermal involvement Eczematous Contact dermatitis Atopic dermatitis Seborrheic dermatitis Stasis dermatitis Lichen simplex chronicus Darier's disease Glucagonoma syndrome Langerhans cell histiocytosis Lichen sclerosus Pemphigus foliaceus Wiskott–Aldrich syndrome Zinc deficiency Scaling Psoriasis Tinea ( Corporis Cruris Pedis Manuum Faciei ) Pityriasis rosea Secondary syphilis Mycosis fungoides Systemic lupus erythematosus Pityriasis rubra pilaris Parapsoriasis Ichthyosis Blistering Herpes simplex Herpes zoster Varicella Bullous impetigo Acute contact dermatitis Pemphigus vulgaris Bullous pemphigoid Dermatitis herpetiformis Porphyria cutanea tarda Epidermolysis bullosa simplex Papular Scabies Insect bite reactions Lichen planus Miliaria Keratosis pilaris Lichen spinulosus Transient acantholytic dermatosis Lichen nitidus Pityriasis lichenoides et varioliformis acuta Pustular Acne vulgaris Acne rosacea Folliculitis Impetigo Candidiasis Gonococcemia Dermatophyte Coccidioidomycosis Subcorneal pustular dermatosis Hypopigmented Tinea versicolor Vitiligo Pityriasis alba Postinflammatory hyperpigmentation Tuberous sclerosis Idiopathic guttate hypomelanosis Leprosy Hypopigmented mycosis fungoides Without epidermal involvement Red Blanchable Erythema Generalized Drug eruptions Viral exanthems Toxic erythema Systemic lupus erythematosus Localized Cellulitis Abscess Boil Erythema nodosum Carcinoid syndrome Fixed drug eruption Specialized Urticaria Erythema ( Multiforme Migrans Gyratum repens Annulare centrifugum Ab igne ) Nonblanchable Purpura Macular Thrombocytopenic purpura Actinic/solar purpura Papular Disseminated intravascular coagulation Vasculitis Indurated Scleroderma / morphea Granuloma annulare Lichen sclerosis et atrophicus Necrobiosis lipoidica Miscellaneous disorders Ulcers Hair Telogen effluvium Androgenic alopecia Alopecia areata Systemic lupus erythematosus Tinea capitis Loose anagen syndrome Lichen planopilaris Folliculitis decalvans Acne keloidalis nuchae Nail Onychomycosis Psoriasis Paronychia Ingrown nail Mucous membrane Aphthous stomatitis Oral candidiasis Lichen planus Leukoplakia Pemphigus vulgaris Mucous membrane pemphigoid Cicatricial pemphigoid Herpesvirus Coxsackievirus Syphilis Systemic histoplasmosis Squamous-cell carcinoma v t e Connective / soft tissue tumors and sarcomas Not otherwise specified Soft-tissue sarcoma Desmoplastic small-round-cell tumor Connective tissue neoplasm Fibromatous Fibroma / fibrosarcoma : Dermatofibrosarcoma protuberans Desmoplastic fibroma Fibroma / fibromatosis : Aggressive infantile fibromatosis Aponeurotic fibroma Collagenous fibroma Diffuse infantile fibromatosis Familial myxovascular fibromas Fibroma of tendon sheath Fibromatosis colli Infantile digital fibromatosis Juvenile hyaline fibromatosis Plantar fibromatosis Pleomorphic fibroma Oral submucous fibrosis Histiocytoma / histiocytic sarcoma : Benign fibrous histiocytoma Malignant fibrous histiocytoma Atypical fibroxanthoma Solitary fibrous tumor Myxomatous Myxoma / myxosarcoma Cutaneous myxoma Superficial acral fibromyxoma Angiomyxoma Ossifying fibromyxoid tumour Fibroepithelial Brenner tumour Fibroadenoma Phyllodes tumor Synovial -like Synovial sarcoma Clear-cell sarcoma Lipomatous Lipoma / liposarcoma Myelolipoma Myxoid liposarcoma PEComa Angiomyolipoma Chondroid lipoma Intradermal spindle cell lipoma Pleomorphic lipoma Lipoblastomatosis Spindle cell lipoma Hibernoma Myomatous general: Myoma / myosarcoma smooth muscle : Leiomyoma / leiomyosarcoma skeletal muscle : Rhabdomyoma / rhabdomyosarcoma : Embryonal rhabdomyosarcoma Sarcoma botryoides Alveolar rhabdomyosarcoma Leiomyoma Angioleiomyoma Angiolipoleiomyoma Genital leiomyoma Leiomyosarcoma Multiple cutaneous and uterine leiomyomatosis syndrome Multiple cutaneous leiomyoma Neural fibrolipoma Solitary cutaneous leiomyoma STUMP Complex mixed and stromal Adenomyoma Pleomorphic adenoma Mixed Müllerian tumor Mesoblastic nephroma Wilms' tumor Malignant rhabdoid tumour Clear-cell sarcoma of the kidney Hepatoblastoma Pancreatoblastoma Carcinosarcoma Mesothelial Mesothelioma Adenomatoid tumor