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Doege–potter Syndrome Wikipedia

PMID 17409923 . ^ Herrmann BL, Saller B, Kiess W, et al. (2000). "Primary malignant fibrous histiocytoma of the lung: IGF-II producing tumor induces fasting hypoglycemia". ... Diabetes . 108 (8): 515–18. doi : 10.1055/s-2000-11007 . PMID 11149628 . ^ Doege, KW (1930). ... PMID 1474302 . ^ a b Chamberlain MH, Taggart DP (January 2000). "Solitary fibrous tumor associated with hypoglycemia: an example of the Doege–Potter syndrome" . ... Surg . 119 (1): 185–7. doi : 10.1016/S0022-5223(00)70242-X . PMID 10612786 . Archived from the original on 2013-01-12. ^ a b Shields, TW; LoCicero J; Ponn RB; Rusch VW (2005). ... Hagerstwon, MD: Lippincott Williams & Wilkins. pp. 893 . ISBN 0-7817-3889-X . ^ Ellorhaoui M, Graf B (February 1976).
Guttate Psoriasis Wikipedia

Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . ^ James W, Berger T, Elston D (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. ISBN 0-7216-2921-0 . ^ Pardasani AG, Feldman SR, Clark AR (February 2000). ... PMID 15708928 . ^ Mallon E, Bunce M, Savoie H, Rowe A, Newson R, Gotch F, Bunker CB (December 2000). "HLA-C and guttate psoriasis". ... Journal of the American Academy of Dermatology . 42 (5 Pt 2): 885–7. doi : 10.1016/s0190-9622(00)90263-9 . PMID 10767696 . ^ Mehlis S (2019). ... PMID 11899141 . ^ Chalmers RJ, O'Sullivan T, Owen CM, Griffiths CE (2000-01-01). "Interventions for guttate psoriasis".

HLA-C, IL17A, APOE, HLA-DOA, IFNG, IL4, IL9, RXRB, XPR1, NOD2
- Guttate Psoriasis Gard
  
  Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body. It is a relatively uncommon form of psoriasis . The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immune system to sunlight and phototherapy.
Hydroa Vacciniforme Wikipedia

It was first described in 1862 by Bazin. [1] It is sometimes called "Bazin's hydroa vacciniforme". A study published in Scotland in 2000 reviewed the cases of 17 patients and estimated a prevalence of 0.34 cases per 100,000 population. ... Delabrage . 1:132. ^ Gupta, G; Man I; Kemmett D. (2000). "Hydroa vacciniforme: A clinical and follow-up study of 17 cases". ... Feb, 42(2 Pt 1) (2): 208–13. doi : 10.1016/s0190-9622(00)90127-0 . PMID 10642674 . ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 0-7216-2921-0 . ^ Rezk SA, Zhao X, Weiss LM (September 2018).

CD4, CCR4, GATA2, PLK2
- Hydroa Vacciniforme Orphanet
  
  A rare photodermatosis characterized by the development of pruritic or painful vesicles in a photodistributed pattern in response to sunlight exposure. The lesions heal with permanent varioliform scarring. Ocular involvement, deformities of ears and nose, or contractures of the fingers may occasionally be observed. Systemic signs and symptoms are absent. The condition typically occurs in childhood and regresses spontaneously in adolescence or young adulthood.
Dukes' Disease Wikipedia

The Lancet . 156 (4011): 89–95. doi : 10.1016/S0140-6736(00)65681-7 . ^ a b c d Weisse, ME (31 December 2000). "The fourth disease, 1900-2000". The Lancet . 357 (9252): 299–301. doi : 10.1016/S0140-6736(00)03623-0 .
Lisch Epithelial Corneal Dystrophy Wikipedia

Ophthalmol. 114 (1): 35–44. doi : 10.1016/S0002-9394(14)77410-0 . PMID 1621784 . ^ Lisch W, Büttner A, Oeffner F, Böddeker I, Engel H, Lisch C, Ziegler A, Grzeschik K (October 2000). ... Ophthalmol. 130 (4): 461–8. doi : 10.1016/S0002-9394(00)00494-3 . PMID 11024418 . External links [ edit ] Classification D ICD - 10 : H18.5 OMIM : 300778 MeSH : C567588 C567588, C567588 External resources Orphanet : 98955 v t e Types of corneal dystrophy Epithelial and subepithelial Epithelial basement membrane dystrophy Gelatinous drop-like corneal dystrophy Lisch epithelial corneal dystrophy Meesmann corneal dystrophy Subepithelial mucinous corneal dystrophy Bowman's membrane Reis–Bucklers corneal dystrophy Thiel-Behnke dystrophy Stroma Congenital stromal corneal dystrophy Fleck corneal dystrophy Granular corneal dystrophy Lattice corneal dystrophy Macular corneal dystrophy Posterior amorphous corneal dystrophy Schnyder crystalline corneal dystrophy Descemet's membrane and endothelial Congenital hereditary endothelial dystrophy Fuchs' dystrophy Posterior polymorphous corneal dystrophy X-linked endothelial corneal dystrophy This article about an ophthalmic disease is a stub .
- Corneal Dystrophy, Lisch Epithelial Omim
  
  Immunohistochemistry showed scattered staining on Ki67, indicating no evidence of increased mitotic activity. Mapping Lisch et al. (2000) established that Lisch and Meesmann (122100) epithelial corneal dystrophies are genetically distinct.
- Lisch Epithelial Corneal Dystrophy Orphanet
  
  Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision. Epidemiology Exact prevalence of this form of corneal dystrophy is not known but very few cases have been reported to date. LECD has been documented in one German family and in rare sporadic cases in Germany and the USA. Clinical description Lesions generally develop in childhood. Epithelial opacities are slowly progressive and painless blurred vision sometimes occurs after 60 years of age. Etiology The exact cause is unknown but appears to be genetic. The gene related to Lisch epithelial corneal dystrophy has been mapped to the short arm of the X chromosome (Xp22.3).
Staphylococcal Scalded Skin Syndrome Wikipedia

The Lancet . 156 (4011): 89–95. doi : 10.1016/S0140-6736(00)65681-7 . ^ Weisse, Martin E (31 December 2000). "The fourth disease, 1900-2000". The Lancet . 357 (9252): 299–301. doi : 10.1016/S0140-6736(00)03623-0 . ... The Journal of Pediatrics . 78 (6): 958–67. doi : 10.1016/S0022-3476(71)80425-0 . PMID 4252715 . ^ Morens, David M; Katz, Alan R; Melish, Marian E (31 May 2001). ... The Lancet . 357 (9273): 2059. doi : 10.1016/S0140-6736(00)05151-5 . PMID 11441870 . S2CID 35925579 .

DSG1, EDNRB, EDNRA, EXT1, SPINK5, SETBP1, DSG4
- Staphylococcal Scalded Skin Syndrome Orphanet
  
  A rare staphylococcal toxemia caused by epidermolytic toxins of Staphylococcus aureus and characterized by the appearance of widespread erythematous patches, on which large blisters develop. Upon rupture of these blisters, the skin appears reddish and scalded. The lesions typically begin in the face and rapidly expand to other parts of the body. The disease may be complicated by pneumonia and sepsis. It most commonly affects newborns and infants.
Thelaziasis Wikipedia

PMID 15639731 . ^ Anderson, R. C. (2000). " Thelazia ". Nematode Parasites of Vertebrates: Their Development and Transmission (2nd ed.). Wallingford, England: CABI Publishing. pp. 404 –407. ISBN 0-85199-421-0 . ^ Shen, J; Gasser, RB; Chu, D; Wang, Z; Yuan, X; Cantacessi, C; Otranto, D (2006). ... PMID 30644355 . ^ Koyama, Y; Ohira, A; Kono, T; Yoneyama, T; Shiwaku, K (2000). "Five cases of thelaziasis" . The British Journal of Ophthalmology . 84 (4): 441. doi : 10.1136/bjo.84.4.439c . ... PMID 7189135 . ^ Lyons, ET; Swerczek, TW; Tolliver, SC; Bair, HD; Drudge, JH; Ennis, LE (2000). "Prevalence of selected species of internal parasites in equids at necropsy in central Kentucky (1995-1999)". Veterinary Parasitology . 92 (1): 51–62. doi : 10.1016/S0304-4017(00)00266-1 . PMID 10936545 . ^ Dubay, SA; W, E; M, K; B, A (2000).
Kasabach–merritt Syndrome Wikipedia

Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 597. ISBN 978-0-7216-2921-6 . ^ a b c d e Hall G (2001). ... J Pediatr Surg . 23 (2): 109–11. doi : 10.1016/S0022-3468(88)80135-0 . PMID 3278084 . ^ a b c d Kasabach-Merritt Syndrome at eMedicine ^ Larsen, EC; Zinkham, WH; Eggleston, JC; Zitelli, BJ (June 1987). ... PMID 27493358 . ^ Enjolras O, Mulliken J, Wassef M, Frieden I, Rieu P, Burrows P, Salhi A, Léauté-Labrèze C, Kozakewich H (2000). "Residual lesions after Kasabach–Merritt phenomenon in 41 patients". J Am Acad Dermatol . 42 (2 Pt 1): 225–35. doi : 10.1016/S0190-9622(00)90130-0 . PMID 10642677 . External links [ edit ] Classification D ICD - 10 : D69.5 ( ILDS D69.507) ICD - 9-CM : 287.39 OMIM : 141000 MeSH : D059885 DiseasesDB : 30701 SNOMED CT : 86635005 External resources eMedicine : med/1221 ped/1234 Orphanet : 2330

ANGPT1, ANGPT2, THBD, VEGFA, VEGFC, GNA14
- Hemangioma-Thrombocytopenia Syndrome Omim
  
  With giant hemangiomas in small children, thrombocytopenia and red cell changes compatible with trauma ('microangiopathic hemolytic anemia') have been observed. The mechanism of the hematologic changes is obscure. No evidence of a simple genetic basis has been discovered. Propp and Scharfman (1966) reported a male infant with thrombocytopenia associated with a large hemangioma of the right arm and axilla. The patient had low platelet counts with a markedly diminished platelet survival time and an absence of platelet agglutinin or complement-fixing antibody. Radiochromate-tagged platelet studies suggested sequestration in the hemangioma, liver, and spleen.
- Hemangioma Thrombocytopenia Syndrome Gard
  
  Hemangioma thrombocytopenia syndrome is characterized by profound thrombocytopenia in association with two rare vascular tumors: kaposiform hemangioendotheliomas and tufted angiomas . The profound thrombocytopenia can cause life threatening bleeding and progress to a disseminated coagulopathy in patients with these tumors. The condition typically occurs in early infancy or childhood, although prenatal cases (diagnosed with the aid of ultrasonography), newborn presentations, and rare adult cases have been reported.
- Kasabach-Merritt Syndrome Orphanet
  
  Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.
Pachyonychia Congenita Gene_reviews

International Pachyonychia Congenita Research Registry (IPCRR) Data Summary (as of 10 May 2017) View in own window Gene in Which Pathogenic Variants Were Confirmed KRT6A KRT6B KRT6C KRT16 KRT17 TOTAL Number evaluated for finding 1 304 71 22 247 130 774 Toenails thickened 10 toenails 286 (94%) 26 (37%) 0 (00%) 99 (40%) 100 (77%) 511 (66%) 7-9 toenails 9 (03%) 14 (20%) 0 (00%) 52 (21%) 11 (08%) 86 (11%) 4-6 toenails 2 (01%) 21 (30%) 3 (14%) 63 (26%) 7 (05%) 96 (12%) 1-3 toenails 4 (01%) 9 (13%) 10 (45%) 44 (18%) 8 (06%) 75 (10%) Total w/toenails thickened 301 (99%) 70 (99%) 13 (59%) 238 (96%) 126 (97%) 748 (97%) Age at onset Birth - <1 yr 264 (88%) 10 (14%) 1 (08%) 45 (19%) 92 (73%) 412 (54%) 1-4 yrs 33 (11%) 19 (27%) 6 (46%) 78 (33%) 24 (19%) 160 (21%) 5-14 yrs 4 (01%) 34 (49%) 4 (31%) 74 (31%) 10 (08%) 126 (17%) ≥15 yrs 0 (00%) 7 (10%) 2 (15%) 43 (18%) 1 (01%) 53 (07%) Fingernails thickened 10 fingernails 271 (89%) 4 (06%) 0 (00%) 73 (30%) 62 (48%) 410 (53%) 7-9 fingernails 10 (03%) 4 (06%) 0 (00%) 11 (04%) 13 (10%) 38 (05%) 4-6 fingernails 14 (05%) 17 (24%) 0 (00%) 30 (12%) 28 (22%) 89 (11%) 1-3 fingernails 6 (02%) 7 (10%) 0 (00%) 28 (11%) 9 (07%) 50 (06%) Total w/fingernails thickened 301 (99%) 32 (45%) 0 (00%) 142 (57%) 112 (86%) 587 (76%) Age at onset Birth - <1 yr 267 (89%) 4 (13%) 0 (00%) 33 (23%) 85 (76%) 389 (66%) 1-4 yrs 30 (10%) 8 (25%) 0 (00%) 42 (30%) 19 (17%) 99 (17%) 5-14 yrs 3 (01%) 11 (34%) 0 (00%) 34 (24%) 6 (05%) 54 (09%) ≥15 yrs 1 (00%) 10 (31%) 0 (00%) 34 (24%) 3 (03%) 48 (08%) Plantar keratoderma Always (never completely goes away) 254 (84%) 67 (94%) 19 (86%) 240 (97%) 86 (66%) 666 (86%) Sometimes (feet clear up completely at times) 7 (02%) 1 (01%) 0 (00%) 1 (00%) 14 (11%) 23 (03%) Seldom (feet usually clear of symptoms) 5 (02%) 0 (00%) 0 (00%) 0 (00%) 4 (03%) 9 (01%) Total w/plantar keratoderma 266 (88%) 68 (96%) 19 (86%) 241 (98%) 104 (80%) 698 (90%) Age at onset Birth - <1 yr 39 (15%) 2 (03%) 1 (05%) 23 (10%) 12 (12%) 77 (11%) 1-4 yrs 152 (57%) 23 (34%) 9 (47%) 130 (54%) 35 (34%) 349 (50%) 5-14 yrs 70 (26%) 42 (62%) 9 (47%) 82 (34%) 43 (41%) 246 (35%) ≥15 yrs 5 (02%) 1 (01%) 0 (00%) 8 (03%) 15 (14%) 29 (04%) Plantar pain w/plantar keratoderma 2 Often require medication for pain 65 (24%) 12 (18%) 5 (26%) 74 (31%) 19 (18%) 175 (25%) Very painful, but do not use medication 114 (43%) 32 (47%) 11 (58%) 111 (46%) 34 (33%) 302 (43%) Somewhat painful 77 (29%) 24 (35%) 3 (16%) 50 (21%) 36 (35%) 190 (27%) Total w/plantar keratoderma/pain 256 (96%) 68 (100%) 19 (100%) 235 (98%) 89 (86%) 667 (96%) Palmar keratoderma Always (never completely goes away) 86 (28%) 11 (15%) 2 (09%) 148 (60%) 21 (16%) 268 (35%) Sometimes (hands clear up completely at times) 32 (11%) 7 (10%) 1 (05%) 15 (06%) 22 (17%) 77 (10%) Seldom (hands usually clear of symptoms) 49 (16%) 13 (18%) 3 (14%) 22 (09%) 27 (21%) 114 (15%) Total w/palmar keratoderma 167 (55%) 31 (44%) 6 (27%) 185 (75%) 70 (54%) 459 (59%) Additional findings Oral leukokeratosis 269 (88%) 18 (25%) 4 (18%) 88 (36%) 34 (26%) 413 (53%) Cysts 188 (62%) 49 (69%) 4 (18%) 64 (26%) 121 (93%) 426 (55%) Follicular hyperkeratosis 162 (53%) 30 (42%) 0 (00%) 30 (12%) 86 (66%) 308 (40%) Natal or prenatal teeth 12 (04%) 0 (00%) 0 (00%) 0 (00%) 99 (76%) 111 (14%) 1.

KRT17, KRT16, KRT6A, KRT6B, KRT10, KRT6C, KRT80, SLURP1, PNOC, NFE2L2, AQP5, FLG, KRT1, KLKB1, GJB2, GABPA, MTOR, KRT9
- Pachyonychia Congenita 4 Omim
  
  A number sign (#) is used with this entry because pachyonychia congenita-4 (PC4) is caused by heterozygous mutation in the KRT6B gene (148042) on chromosome 12q13. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
- Pachyonychia Congenita Orphanet
  
  Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. Epidemiology The prevalence is not known but approximately 1000 patients have been registered to date worldwide. Clinical description PC presents clinically as a spectrum of conditions. PC onset is variable with most cases manifesting soon after birth, others becoming clinically apparent only in late childhood and rarely in adulthood. The first signs of the disease usually are thickened nails or neonatal teeth.
- Pachyonychia Congenita Gard
  
  Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped . Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands ( palmoplantar keratoderma ). Additional features include white patches on the tongue and inside of the mouth (leukokeratosis); bumps around the elbows, knees, and waistline (follicular hyperkeratosis); and cysts of various types including steatocystoma. Features may vary among affected people depending on their specific mutation.
- Pachyonychia Congenita, Autosomal Recessive Omim
  
  For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Inheritance Chong-Hai and Rajagopalan (1977) suggested autosomal recessive inheritance of pachyonychia congenita in a 4-year-old Malaysian girl with first-cousin parents, although they recognized new dominant mutation as a possibility. See also Sivasundram et al. (1985). INHERITANCE - Autosomal recessive HEAD & NECK Mouth - No oral leukoplakia SKIN, NAILS, & HAIR Skin - Horny papules (face, leg, buttocks) - No palmoplantar hyperkeratosis - No hyperhidrosis Nails - Episodic inflammatory swelling of nail bed - Recurrent shedding of nails - Hard,thickened nails (pachyonychia) - Subungual hyperkeratosis MISCELLANEOUS - See also pachyonychia congenita, type 3 (PC1, 167200 ) ▲ Close
- Pachyonychia Congenita 3 Omim
  
  A number sign (#) is used with this entry because pachyonychia congenita-3 (PC3) is caused by heterozygous mutation in the keratin-6a gene (KRT6A; 148041) on chromosome 12q13. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
- Pachyonychia Congenita 2 Omim
  
  A number sign (#) is used with this entry because of evidence that pachyonychia congenita-2 (PC2) is caused by heterozygous mutation in the KRT17 gene (148069) on chromosome 17q21. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
- Pachyonychia Congenita 1 Omim
  
  ., 1993; Lucker and Steijlen, 1995; Mouaci-Midoun et al., 1996; Hannaford and Stapleton, 2000) and has been referred to as pachyonychia congenita tarda.
Diktyoma Wikipedia

The chalky grayish-white particles within the tumor mass correspond to foci of cartilage on histology; the semi-translucent membrane covering the lens in some tumors corresponds to spreading neoplastic cells. [4] [6] Tumor cells form a characteristic diktyomatous pattern, with folded cords and sheets resembling a fisherman's net. [3] In early development of the retina, the medullary epithelial cells acquire polarity, such that a basement membrane associated with the vitreous forms the internal limiting membrane on one side, while terminal bars form the outer limiting membrane on the other side. ... Ophthalmology . 103 (12): 1998–2006. doi : 10.1016/S0161-6420(96)30394-1 . ^ Foster, Robert E; Murray, Timothy G; Byrne, Sandra Frazier; Hughes, J.Randall; Gendron, B.Kym; Ehlies, Fiona J; Nicholson, Donald H (September 2000). "Echographic features of medulloepithelioma". American Journal of Ophthalmology . 130 (3): 364–366. doi : 10.1016/S0002-9394(00)00542-0 . ^ a b c d e Vajaranant, Thasarat S.; Mafee, Mahmood F.; Kapur, Rashmi; Rapoport, Mark; Edward, Deepak P. ... American Journal of Ophthalmology . 133 (6): 841–843. doi : 10.1016/S0002-9394(02)01432-0 . ^ Janss, Anna J.; Yachnis, Anthony T.; Silber, Jeffrey H.; Trojanowski, John Q.; Lee, Virginia M.

EWSR1, HES1, NOTCH2, PMS2, PON1, PTCH1, SMO, HEY1, DICER1, KEAP1, LIN28A, KMT2D, NES
- Medulloepithelioma Of The Central Nervous System Orphanet
  
  Medulloepithelioma of the central nervous system is a rare, primitive neuroectodermal tumor characterized by papillary, tubular and trabecular arrangements of neoplastic neuroepithelium, mimicking the embryonic neural tube, most commonly found in the periventricular region within the cerebral hemispheres, but has also been reported in brainstem and cerebellum. It usually presents in childhood with headache, nausea, vomiting, facial nerve paresis, and/or cerebellar ataxia, and typically has a progressive course, highly malignant behavior and poor prognosis. Hearing and visual loss have also been observed.
- Medulloepithelioma Wikipedia
  
  Medulloepithelioma of the optic nerve with intradural extension--report of two cases and a review of the literature. Childs Nerv Syst. 2000 Jun;16(6):329-33. ^ Depper, MH, Hart, BL. ... In: Neuroimaging, Orrison, WW (ed), WB Saunders, Philadelphia, 2000. p. 1625. ^ Sato T, Shimoda A, Takahishi T, et al.
Cataract 12, Multiple Types Omim

Conley et al. (2000) reported a 5-generation family segregating juvenile-onset progressive cataract. ... Visual acuity ranged from moderate to severe myopia in 8 of 11 affected individuals in whom measurements were reported; none had 20/20 visual acuity. Conley et al. (2000) stated that the sutural opacities and cortical changes described in the presurgical 20-year-old female by Kramer et al. (2000) were very similar to the cataracts observed in several family members in their study. ... In addition to the Y-sutural opacity, patients developed slowly progressive punctate cortical opacities around the third decade and later. Mapping Kramer et al. (2000) performed linkage analysis in a large 4-generation family segregating autosomal dominant congenital nuclear and sutural cataracts and obtained a maximum multipoint lod score of 6.94 across a 0.4-cM region between markers D3S3674 and D3S3612 on chromosome 3q21-q22.3; the maximum 2-point lod score was obtained at D3S1273 (6.65 at theta = 0). ... Molecular Genetics In affected members of a 5-generation family with autosomal dominant juvenile-onset cataract, Conley et al. (2000) identified a missense mutation in the BFSP2 gene (R287W; 603212.0001). ... In affected members of a 4-generation family with autosomal dominant congenital cataract previously described by Kramer et al. (2000), Jakobs et al. (2000) identified an in-frame deletion in the BFSP2 gene (E233del; 603212.0002).

BFSP2, BFSP2-AS1
Erythrocyanosis Crurum Wikipedia

Plewig; H. H. Wolff; Walter H. C. Burgdorf (2000). Dermatology . Springer Verlag. p. 889. ... Andrews' Diseases of the Skin: Clinical Dermatology . Saunders Elsevier. ISBN 0-7216-2921-0 . External links [ edit ] Classification D ICD - 10 : I73.8 This cutaneous condition article is a stub .
Holoprosencephaly Wikipedia

PMID 8837770 . ^ Muenke M, Beachy PA (June 2000). "Genetics of ventral forebrain development and holoprosencephaly" . Current Opinion in Genetics & Development . 10 (3): 262–9. doi : 10.1016/s0959-437x(00)00084-8 . PMID 10826992 . ^ Rash BG, Grove EA (October 2007). ... Archived from the original on 2009-05-14. ^ Armand Marie Leroi , Mutants : On the Form, Varieties and Errors of the Human Body , 2003, Harper Perennial, London. ISBN 0-00-653164-4 ^ The Carter Center for Research in holoprosencephaly [1] and [2] Archived 2008-11-21 at the Wayback Machine ^ Hong M, Srivastava K, Kim S, Allen BL, Leahy DJ, Hu P, Roessler E, Krauss RS, Muenke M (2017) BOC is a modifier gene in holoprosencephaly. ... Human Genetics . 125 (1): 95–103. doi : 10.1007/s00439-008-0599-0 . PMC 2692056 . PMID 19057928 . ^ Tekendo-Ngongang C, Muenke M, Kruszka P (1993). ... PMID 11471164 . ^ a b c d e Croen LA, Shaw GM, Lammer EJ (February 2000). "Risk factors for cytogenetically normal holoprosencephaly in California: a population-based case-control study".

SHH, SIX3, TGIF1, GLI2, NODAL, ZIC2, CDON, PTCH1, FGF8, DISP1, GAS1, FOXH1, TDGF1, TWSG1, HPE1, PPP1R12A, PSTPIP1, PGAP1, PIGN, DHCR7, GLI3, FGFR1, DLL1, GMPPB, BUB1B, PROP1, SOX2, ARID1A, POMGNT1, BUB3, POMT2, LARGE1, MATN4, SUFU, RB1, CHD7, BUB1, POU1F1, TRIP13, B3GALNT2, CILK1, WDR81, C2CD3, GPKOW, FKTN, FGFR3, LHX4, POMT1, HOXA2, IL10, L1CAM, HUWE1, SEMA3E, OTX2, CEP57, FKRP, PRRX1, HESX1, HTC2, HPE8, NOG, TGIF2, SOD1, STIL, LRP2, MNX1, CNOT1, EAPP, FBXW11, CPLANE1, TCTN1, CAMKMT, ZIC5, UCN2, TCTN3, BOC, OSCP1, RALGAPA1, NR4A3, DKK1, WIF1, CALM1, CALM2, CALM3, CAT, KRIT1, CYP2E1, EYA4, FOXG1, GSK3B, FOXA2, LSS, SMAD2, PAX2, PLTP, POMC, RAC3, RFX4, SIM2, TWIST1, ZIC1, MOGS, KMT2D, SMC1A, CHRD, KATNB1, STAG2, SEPTIN9, SBE2
- Chromosome 1q41-Q42 Deletion Syndrome Omim
  
  A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome. A form of holoprosencephaly (HPE10) has been mapped within the deleted region of chromosome 1q41-q42. For a general phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). See also congenital diaphragmatic hernia (DIH; 142340), which has been associated with deletion of chromosome 1q41-q42. See also Skraban-Deardorff syndrome (SKDEAS; 617616), caused by mutation in the WDR26 gene (617424) on chromosome 1q42, which shows overlapping features with chromosome 1q41-q42 deletion syndrome.
- Holoprosencephaly 4 Omim
  
  Molecular Genetics By FISH analysis, Gripp et al. (2000) demonstrated that the TGIF gene resides within the HPE4 minimal critical region.
- Holoprosencephaly 11 Omim
  
  A number sign (#) is used with this entry because holoprosencephaly-11 (HPE11) is caused by heterozygous mutation in the CDON gene (608707) on chromosome 11q24. For a general phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). Clinical Features Bae et al. (2011) reported 4 unrelated patients with HPE11. One patient had agenesis of the corpus callosum, hypotelorism, growth hormone deficiency, global developmental delay, and thick eyebrows with synophrys. Another had agenesis of the corpus callosum, alobar HPE, hypotelorism, cleft lip/palate, and absent columella; absent pituitary and polysplenia were noted in this patient at autopsy.
- Holoprosencephaly 8 Omim
  
  For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). Clinical Features Levin and Surana (1991) described holoprosencephaly in association with an interstitial deletion of chromosome 14q11.1-q13. Parental karyotypes were normal. The white female, born to nonconsanguineous young parents after an uncomplicated pregnancy, showed hypotelorism, lack of nasal bridge, flattened nasal tip with no visible septum, wide midline cleft of lip and hard palate, and ptosis of the left upper eyelid. Axial CT scan of the head was interpreted as showing semilobar holoprosencephaly. The infant died at 8 days of age. Kamnasaran et al. (2005) reported 6 patients with HPE and interstitial deletions on proximal chromosome 14q: 1 had alobar HPE and 5 had lobar HPE.
- Holoprosencephaly 6 Omim
  
  For phenotypic information and a general discussion of genetic heterogeneity in holoprosencephaly (HPE), see HPE1 (236100). Clinical Features Lehman et al. (2001) described a female infant who survived for 5.5 hours after delivery at 33 weeks' gestation. Autopsy showed a lobar variant of holoprosencephaly. Cytogenetics By cytogenetic analysis in an infant with a lobar variant of holoprosencephaly, Lehman et al. (2001) identified a 2q37.1-q37.3 deletion. This case represented the fourth reported case of HPE associated with partial monosomy 2q37 and the first with an apparently isolated 2q37 deletion. Lehman et al. (2001) suggested that the deleted segment may contain yet another locus, here designated HPE6, which, when disrupted, can lead to brain malformations within the HPE spectrum.
- Nonsyndromic Holoprosencephaly Medlineplus
  
  Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres ) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish it from other types of holoprosencephaly caused by genetic syndromes, chromosome abnormalities, or substances that cause birth defects (teratogens). The severity of nonsyndromic holoprosencephaly varies widely among affected individuals, even within the same family.
- Holoprosencephaly Gard
  
  Holoprosencephaly is an abnormality of brain development in which the brain doesn't properly divide into the right and left hemispheres. The condition can also affect development of the head and face. There are 4 types of holoprosencephaly, distinguished by severity. From most to least severe, the 4 types are alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). In general, the severity of any facial defects corresponds to the severity of the brain defect. The most severely affected people have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye.
- Holoprosencephaly 3 Omim
  
  Benzacken et al. (1997) proposed either a long range positional effect or the existence of genes involved in prosencephalon development at 7q21.2 or 13q33 as an explanation for this. Nowaczyk et al. (2000) reported an infant with holoprosencephaly, sacral anomalies, and situs ambiguus associated with partial monosomy 7q/trisomy 2p, der(7)t(2;7)(p23.2;q36.1), as a result of an adjacent-1 segregation of a t(2;7) in the father.
- Holoprosencephaly 7 Omim
  
  A number sign (#) is used with this entry because of evidence that holoprosencephaly-7 (HPE7) is caused by heterozygous mutation in the PTCH1 gene (601309) on chromosome 9q22. For phenotypic information and a general discussion of genetic heterogeneity in holoprosencephaly, see HPE1 (236100). Description Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).
- Solitary Median Maxillary Central Incisor Omim
  
  A number sign (#) is used with this entry because of evidence that solitary median maxillary central incisor (SMMCI) and SMMCI syndrome are caused by heterozygous mutation in the Sonic hedgehog gene (SHH; 600725) on chromosome 7q36. Clinical Features Rappaport et al. (1976, 1977) reported 7 unrelated patients with single (unpaired) deciduous and permanent maxillary central incisors and short stature. Five of them had isolated growth hormone deficiency. The other 2 had normal growth hormone responses but were short of stature. No similar or possibly related abnormalities were present in the 7 families. Rappaport et al. (1976) used the term monosuperoincisivodontic dwarfism to describe the association of short stature and solitary incisor.
- Holoprosencephaly 1 Omim
  
  HPE12 (618500) is caused by mutation in the CNOT1 gene (604917) on 16q21. Wallis and Muenke (2000) gave an overview of mutations in holoprosencephaly.
- Holoprosencephaly Orphanet
  
  A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity. Epidemiology Prevalence is estimated to be 1/10,000 live and still births and 1/250 conceptuses, with worldwide distribution. Clinical description Three classical forms of holoprosencephaly (HPE) of increasing severity are described based on the degree of anatomical separation: lobar, semi-lobar and alobar HPE. Milder subtypes include midline interhemispheric variant and septopreoptic HPE. There is, however, a continuous spectrum of abnormal separation of the hemispheres that extends from aprosencephaly/atelencephaly, the most severe end of the spectrum, to microform HPE, a less severe midline defect without the typical HPE brain characteristics.
Coolie Itch Wikipedia

Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 0-7216-2921-0 . ^ Alan B. Fleischer (15 January 2000). ... Informa Health Care. pp. 62–. ISBN 978-1-85070-779-0 . Retrieved 30 April 2010 . v t e Arthropods and ectoparasite -borne diseases and infestations Insecta Louse Body louse ( pediculosis corporis ) / Head louse ( head lice infestation ) Crab louse ( phthiriasis ) Hemiptera Bed bug ( cimicosis ) Fly Dermatobia hominis / Cordylobia anthropophaga / Cochliomyia hominivorax ( myiasis ) Mosquito ( mosquito-borne disease ) Flea Tunga penetrans ( tungiasis ) Crustacea Pentastomida Linguatula serrata ( linguatulosis ) Porocephalus crotali / Armillifer armillatus ( porocephaliasis ) For ticks and mites, see Template:Tick and mite-borne diseases and infestations This infection-related cutaneous condition article is a stub .
Lymphatic Filariasis Wikipedia

Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 978-0-7216-2921-6 . ^ a b Pfarr KM, Debrah AY, Specht S, Hoerauf A (November 2009). ... Anatomy & Physiology: The Unity of Form and Function . McGraw-Hill. ISBN 978-0-07-287506-5 . ^ a b c "Parasites - Lymphatic Filariasis" . cdc.gov . ... PMID 18841205 . ^ Progress report 2000-2009 and strategic plan 2010-2020 of the global programme to eliminate lymphatic filariasis: halfway towards eliminating lymphatic filariasis (PDF) . ... Wallingford: CAB International. pp. 1–848. ISBN 0-85198-689-7 . ^ Grove, David I (2014). ... Oxford: Oxford University Press. pp. 1–602. ISBN 978-0-19-964102-4 . ^ Burma D.P. (2010).

GPT2, THAS, IL10, HSPD1, TLR9, TLR2, LMLN, GGTLC1, TMPRSS13, NARS2, RBM33, TLR1, HSPA14, NBEAL2, HERPUD1, NR0B2, VEGFA, TXN, TNFRSF1B, TLR4, CISH, CTLA4, MSMB, EDN1, FOXC2, FLT4, HGF, IGHG3, IL3, MST1, TGFB1, NARS1, PRL, PTEN, PTPN6, SLA, SMS, LOC102724197
- Lymphatic Filariasis Gard
  
  Lymphatic filariasis is a parasitic disease caused by microscopic, thread-like worms that only live in the human lymph system , which maintains the body's fluid balance and fights infections. It is spread from person to person by mosquitoes. Most infected people are asymptomatic and never develop clinical symptoms. 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.
- Lymphatic Filariasis Orphanet
  
  Lymphatic filariasis (LF) is a severe form of filariasis (see this term), caused by the parasitic worms Wuchereria bancrofti , Brugia malayi and Brugia timori , and the most common cause of acquired lymphedema worldwide. LF is endemic to tropical and subtropical regions. The vast majority of infected patients are asymptomatic but it can also cause a variety of clinical manifestations, including limb lymphedema, genital anomalies (hydrocele, chylocele), elephantiasis in later stages of the disease (frequently in the lower extremities), and tropical pulmonary eosinophilia (nocturnal paroxysmal cough and wheezing, weight loss, low-grade fever, adenopathy, and pronounced blood eosinophilia). Renal involvement (hematuria, proteinuria, nephritic syndrome, glomerulonephritis), and mono-arthritis of the knee or ankle joint have also been reported.
Fundic Gland Polyposis Wikipedia

. ^ a b Declich, P; Ambrosiani, L; Grassini, R; Tavani, E; Bellone, S; Bortoli, A; Gozzini, C; Prada, A (2000). "Fundic gland polyps: a still elusive entity on the eve of the year 2000". ... PMID 14598262 . ^ Declich, P; Ambrosiani, L; Bellone, S; Tavani, E; Grassini, R; Prada, A; Bortoli, A; Gozzini, C; Omazzi, B (2000). "Parietal cell hyperplasia with deep cystic dilations: a lesion closely mimicking fundic gland polyps". ... PMID 10923933 . ^ Aprile, MR; Azzoni, C; Gibril, F; Jensen, RT; Bordi, C (2000). "Intramucosal cysts in the gastric body of patients with Zollinger-Ellison syndrome". Human Pathology . 31 (2): 140–8. doi : 10.1016/S0046-8177(00)80213-0 . PMID 10685627 . ^ a b Worthley DL, Phillips KD, Wayte N, Schrader KA, Healey S, Kaurah P, Shulkes A, Grimpen F, Clouston A, Moore D, Cullen D, Ormonde D, Mounkley D, Wen X, Lindor N, Carneiro F, Huntsman DG, Chenevix-Trench G, Suthers GK (May 2012). ... PMC 1850357 . PMID 11238048 . ^ Chung, DC (2000). "The genetic basis of colorectal cancer: insights into critical pathways of tumorigenesis".
Disseminated Superficial Actinic Porokeratosis Wikipedia

Although no known hormonal link has been found, DSAP occurs more commonly in women. [3] A study in 2000 was done on a Chinese family, in which a locus for a gene was located. [4] See also [ edit ] Porokeratosis Skin lesion List of cutaneous conditions References [ edit ] ^ Freedberg, Irwin M.; Fitzpatrick, Thomas B. (2003). ... New York: McGraw-Hill, Medical Pub. Division. p. 533. ISBN 0-07-138076-0 . ^ "Yahoo! Groups" . ^ "Disseminated Superficial Actinic Porokeratosis - American Osteopathic College of Dermatology (AOCD)" . ^ Xia JH, Yang YF, Deng H, et al. (June 2000). "Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1".

SART3, MVD, FDPS, MVK, PMVK, SLC17A9, TP53, XRS, GGPS1, ARPC3, SSH1
- Porokeratosis Wikipedia
  
  Fitzpatrick's Dermatology in General Medicine . (6th ed.). McGraw-Hill. ISBN 0-07-138076-0 . ^ a b c d Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ... Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. ISBN 0-7216-2921-0 . ^ a b Familial disseminated plaque type porokeratosis with multiple horns and squamous cell carcinoma involving anal skin ^ Lemont H (2008).
Hypovolemia Wikipedia

Lippincott Williams & Wilkins. p. 101. ISBN 978-0-7817-2803-4 . ^ Henry MC, Stapleton ER, Edgerly D (26 July 2011). ... Jones & Bartlett Publishers. pp. 471–. ISBN 978-0-323-08533-5 . ^ Assuma Beevi (31 August 2012). ... Jaypee Brothers Publishers. pp. 113–. ISBN 978-93-5025-987-0 . ^ Blaber A, Harris G (1 October 2011). ... McGraw-Hill Education. pp. 83–. ISBN 978-0-335-24199-6 . ^ Hudson, Kristi. "Hypovolemic Shock - 1 Nursing CE" . ... Resuscitation . 45 (3): 209–220. doi : 10.1016/s0300-9572(00)00183-0 . PMID 10959021 . ^ "Permissive Hypotension" .

CDKN1A, NTS, ACTA2, STX3, MYLK, MYO5B, PLAGL1, PRKG1, STAT3, ABCC8, MAT2A, TGFB2, TGFB3, TGFBR1, TGFBR2, MFAP5, HYMAI, MYH11, SMAD3, AQP2, FBN1, AVPR2, CFTR, CYP11A1, CYP11B1, CYP11B2, ELN, FOXE3, FSHR, GCK, HSD3B2, INS, PDX1, KCNJ11, LOX, ZFP57, MMP2
Exotic Ungulate Encephalopathy Wikipedia

Cambridge, UK: Cambridge University Press. p. 141. ISBN 0-521-45393-3 . ^ Strauss, Ellen G.; Strauss, James H. (2008). ... Boston, MA: Elsevier / Academic Press. ISBN 0-12-373741-9 . ^ a b Baird-Parker, A. C.; Gould, G. W.; Lund, Barbara M. (2000). The Microbiological Safety and Quality of Food . Gaithersburg, Md: Aspen Publishers. pp. 1590–1598. ISBN 0-8342-1323-0 . v t e Prion diseases and transmissible spongiform encephalopathy Prion diseases in humans inherited/ PRNP : fCJD Gerstmann–Sträussler–Scheinker syndrome Fatal familial insomnia sporadic: sCJD Sporadic fatal insomnia Variably protease-sensitive prionopathy acquired/ transmissible: iCJD vCJD Kuru Prion diseases in other animals Bovine spongiform encephalopathy Camel spongiform encephalopathy Scrapie Chronic wasting disease Transmissible mink encephalopathy Feline spongiform encephalopathy Exotic ungulate encephalopathy This veterinary medicine –related article is a stub .
Primary And Secondary Brain Injury Wikipedia

Hagerstown, MD: Lippincott Williams & Wilkins. p. 1150. ISBN 0-7817-2655-7 . Retrieved 2008-06-16 . ^ a b c d e f Scalea TM (2005). ... Boca Raton: CRC. pp. 26–32. ISBN 978-0-8493-8138-6 . Retrieved 2008-07-06 . ^ a b Porth, Carol (2007). ... Hagerstown, MD: Lippincott Williams & Wilkins. p. 838. ISBN 978-0-7817-7087-3 . Retrieved 2008-07-03 . ^ Pitkänen A, McIntosh TK (2006). ... Boca Raton: CRC. pp. 26–32. ISBN 978-0-8493-8138-6 . Retrieved 2008-07-06 . ^ a b Sullivan PG, Rabchevsky AG, Hicks RR, Gibson TR, Fletcher-Turner A, Scheff SW (2000). ... Neuroscience . 101 (2): 289–95. doi : 10.1016/S0306-4522(00)00380-8 . PMID 11074152 . S2CID 20457228 . ^ Sauaia A, Moore FA, Moore EE, et al.