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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
  
  A number sign (#) is used with this entry because pachyonychia congenita-1 (PC1) is caused by heterozygous mutation in the keratin-16 gene (KRT16; 148067) 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). Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis.
Epithelioma Wikipedia

. ^ "Deaths in the district of Inveresk and Musselburgh in the County of Edinburgh" . Statutory Deaths 689/00 0032 . ScotlandsPeople . Retrieved 11 April 2015 . External links [ edit ] Classification D ICD-O : 8011/0, 8011/3 Wikimedia Commons has media related to Epithelioma .

AS3MT, LATS1, HPGD, SCD, ERBB2, MUC1, EGFR, TP53, CTNNB1, CD274, VEGFA, CDKN2A, FHIT, CD44, EPCAM, BCL2, NCOA3, ANIB1, HEATR6, VIM, PTK6, KIT, FAP, IGF1, CD82, NTRK1, PIK3CG, EGF, KRAS, PIK3CD, GLI1, RASSF1, PIK3CB, MMP2, PIK3CA, SRA1, GTF2I, H3P10, MIR21, MIR200C, NPC1, MTA1, LINC01194, FSHR, FSCN1, CLU, BRAF, HGF, ABCB1, FOXL2, PDLIM7, PCNA, SMUG1, NOTCH1, FGF2, BAX, TBC1D9, CXCL8, MYB, ITGAE, JAG2, MICA, TNF, KRT19, LGALS1, TRBV20OR9-2, MMP14, MMP9, PPARG, FST, FASN, EZH2, PTGS2, VHL, ODAM, EPHB4, FOXN1, ESR1, MUC16, CRP, PROM1, CLDN3, RUNX3, NUTM1, SGK1, WT1, TSC1, VTN, NR0B2, BCL2L10, CXCR4, SLC7A5, TMPRSS2, BCL2L11, TIMP2, TRIM13, PAX8, ZNF154, TIMP1, TSC2, UVRAG, NR1I3, FEZ1, UMPS, NEURL1, TYMS, TTR, CFLAR, RIPK1, CDK2AP2, TP63, KLF4, COX5A, EI24, TTN, CXCL14, KLK4, TTF1, LMO4, HSPB3, XPO1, CASP14, SEMA3C, DIAPH3, TXLNA, IMMP1L, ARX, IRX2, MLIP, MARVELD1, HM13, FBXW7, SLC44A4, PHC3, LIN28A, C19orf33, LGR6, OVOL2, MUC20, PGP, LYPD5, MIR141, MIR143, MIR145, MIR148A, MIR214, MIR485, CXADRP1, TEC, KLRC4-KLRK1, ERVK-20, ERVK-18, AK6, ERVK-32, H3P8, SLC12A9, TRIM62, UBD, CYFIP1, CLIC4, FBXO7, TRIM29, TGFB2, SATB2, FBXW11, KLRK1, ERCC6L, RPP14, CKAP4, SUB1, FASTK, IGF2BP1, PDPN, NOC2L, NOX1, IL17C, LAMTOR2, HIPK2, ERVW-1, FOXP3, APH1A, EGFL7, LEF1, HSD17B7, SF3B6, ACSL5, WWOX, RTEL1, WNT4, KRT20, THM, ACTB, TFPI, FGF7, CTSV, CXADR, CYP19A1, DAXX, DPYD, DSG2, EIF2S1, ELF3, ELF4, EN1, EWSR1, F2R, F3, FBLN1, FGFR2, CSF1, FN1, FOLH1, FRA16D, GPC3, HAS1, HHEX, HIF1A, HIP1, HLA-G, HMGB1, HMGA1, HNF4A, HOXA7, HRAS, CSF1R, CPOX, TFE3, CA9, AKT1, ALCAM, ALOX5, ANXA2, BIRC2, BIRC3, FAS, AR, ARR3, BGLAP, CEACAM1, BRCA1, BRCA2, TSPO, CASP8, COX8A, CASR, CAT, CAV1, RUNX1, MS4A1, CD40, CD68, CD70, CD74, CDC42, CDH1, CDKN1A, CDKN2B, CEACAM5, ERAS, HSF1, HSPB1, CXCL11, MAP2K1, PTCH1, PTEN, PTK2, PTPN6, PTPRJ, PXN, AFP, RAP2B, RARB, RPE65, S100A1, S100A9, S100B, SDC1, HSPB2, SFPQ, SFRP5, SLC22A1, SNAI2, SNAI1, SOX2, SPG7, SPP1, SRC, ST14, ADAM17, TBX5, ZEB1, TERT, MAPK7, PRKAR1A, POU2F1, PLK1, IFNA1, IFNA13, IGF1R, IGFBP7, IL2, IL4, IL6, IPP, KRT17, LAG3, LEP, MDK, MEIS1, MET, KITLG, MGMT, MST1R, MUC4, MYC, NEU1, NFIB, NOTCH3, ROR1, ODC1, OVOL1, PAX1, PDGFA, PDGFRB, PLAU, RAG1
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 Lancet . 357 (9252): 299–301. doi : 10.1016/S0140-6736(00)03623-0 . PMID 11214144 . S2CID 35896288 . ^ Powell, KR (January 1979). ... 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.
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 Lancet . 357 (9252): 299–301. doi : 10.1016/S0140-6736(00)03623-0 . PMID 11214144 . S2CID 35896288 . ^ Dukes-Filatov disease at Who Named It?
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
  
  Clinical Features Lisch et al. (1992) described 5 family members and 3 unrelated patients (4 males, 4 females), aged 23 to 71 years, with bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns. Retroillumination showed that the opacities consisted of intraepithelial, densely crowded, clear microcysts. Light and electron microscopy disclosed diffuse vacuolization of the cytoplasm of epithelial cells in the affected area. Visual acuity was so reduced in 3 patients that abrasion of the corneal epithelium was performed. The corneal abnormalities recurred within months, with the same reduction in visual acuity as before.
- 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).
Medication Phobia Wikipedia

Clin Dermatol . 19 (1): 69–71. doi : 10.1016/S0738-081X(00)00215-7 . PMID 11369491 . ^ "Drugs that call for extra caution. ... New York: Simon Schuster. p. 56. ISBN 978-0-684-87309-1 . ^ M.d. Kamath, Bob (30 May 2007). ... Kendall Hunt Publishing. p. 25. ISBN 978-0-7872-8701-6 . ^ Ashton CH (2002).
Cervical Polyp Wikipedia

Lippincott Williams & Wilkins. pp. 254–256. ISBN 0-7817-3905-5 . ^ a b c d e f g h i Smith, Melanie N. (2006-05-10). ... Cambridge University Press . p. 77. ISBN 1-900151-51-0 . ^ Papadakis, Maxine A.; Stephen J. ... McGraw-Hill Professional. p. 60. ISBN 0-07-145892-1 . ^ a b Bosze, Peter; David M. ... Informa Health Care. p. 66. ISBN 963-00-7356-0 . ^ "Cervical Polyps" (PDF) .

BMI1, CDKN2A, COMMD3-BMI1
Doege–potter Syndrome Wikipedia

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). ... Hagerstwon, MD: Lippincott Williams & Wilkins. pp. 172–3 . ISBN 978-0-7817-6957-0 . v t e Paraneoplastic syndromes Endocrine Hypercalcaemia SIADH Zollinger–Ellison syndrome Cushing's syndrome Hematological Multicentric reticulohistiocytosis Nonbacterial thrombotic endocarditis Neurological Paraneoplastic cerebellar degeneration Encephalomyelitis Limbic encephalitis Opsoclonus Polymyositis Transverse myelitis Lambert–Eaton myasthenic syndrome Anti-NMDA receptor encephalitis Musculoskeletal Dermatomyositis Hypertrophic osteopathy Mucocutaneous reactive erythema Erythema gyratum repens Necrolytic migratory erythema papulosquamous Acanthosis nigricans Ichthyosis acquisita Acrokeratosis paraneoplastica of Bazex Extramammary Paget's disease Florid cutaneous papillomatosis Leser-Trélat sign Pityriasis rotunda Tripe palms Other Febrile neutrophilic dermatosis Pyoderma gangrenosum Paraneoplastic pemphigus v t e Tumours of endocrine glands Pancreas Pancreatic cancer Pancreatic neuroendocrine tumor α : Glucagonoma β : Insulinoma δ : Somatostatinoma G : Gastrinoma VIPoma Pituitary Pituitary adenoma : Prolactinoma ACTH-secreting pituitary adenoma GH-secreting pituitary adenoma Craniopharyngioma Pituicytoma Thyroid Thyroid cancer (malignant): epithelial-cell carcinoma Papillary Follicular / Hurthle cell Parafollicular cell Medullary Anaplastic Lymphoma Squamous-cell carcinoma Benign Thyroid adenoma Struma ovarii Adrenal tumor Cortex Adrenocortical adenoma Adrenocortical carcinoma Medulla Pheochromocytoma Neuroblastoma Paraganglioma Parathyroid Parathyroid neoplasm Adenoma Carcinoma Pineal gland Pinealoma Pinealoblastoma Pineocytoma MEN 1 2A 2B
Hydroa Vacciniforme Wikipedia

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.
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). ... 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.
Fudan Poisoning Case Wikipedia

Police immediately organized a task force to conduct an investigation. About 0:00 on April 12, 2013, after the police determined that Lin was a suspect and summoned him, Lin then confessed that he had put N -nitrosodimethylamine in dorm 421's water dispenser. ... Archived from the original on 2015-04-21. ^ "上海一周：反思"复旦投毒案"中的舆论角色" . 163.com . 2014-02-24. Archived from the original on 2015-01-25. ^ "最高法复核复旦投毒案被告人死刑判决" .
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). ... 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).

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.
Nose Fetishism Wikipedia

Archived 2013-02-06 at Archive.today Retrieved 2007-12-15. ^ a b Kick (2005) pp.125-6 ^ Love (1994) p.176 ^ Jay Geller, "On Freud's Jewish body: mitigating circumcisions", Fordham University Press, 2007, ISBN 0-8232-2782-0 , p. 95-105 Sources [ edit ] Russ Kick , "Everything You Know about Sex Is Wrong: The Disinformation Guide to the Extremes of Human Sexuality (and Everything in Between)", The Disinformation Company , 2005, ISBN 1-932857-17-6 Brenda Love, "The Encyclopedia of Unusual Sex Practices", Barricade Books , 1994, ISBN 1-56980-011-1 ( Online ) Further reading [ edit ] Anil Aggrawal , "Forensic and Medico-Legal Aspects of Sexual Crimes and Unusual Sexual Practices", CRC Press, 2008, ISBN 1-4200-4308-0 , p. 110,377 Eric W. Hickey, "Sex crimes and paraphilia", Pearson Education, 2006, ISBN 0-13-170350-1 , p. 83 Ronald M. Holmes, Stephen T. Holmes, "Sex crimes: patterns and behavior", Sage Publications, 2001, ISBN 0-7619-2417-5 , p. 246 Viren Swami, Adrian Furnham , The psychology of physical attraction , Routledge, 2008, ISBN 0-415-42250-7 , p. 134 v t e Sexual fetishism Actions, states Aquaphilia Autassassinophilia Coprophilia Cuckold / Cuckquean Emetophilia Erotic hypnosis Erotic lactation Erotic spanking Exhibitionism Forced seduction Gaining and feeding Medical fetishism Omorashi Paraphilic infantilism (adult baby) Pregnancy Smoking Tickling Total enclosure Transvestic Tightlacing Tamakeri Urolagnia Vorarephilia Wet and messy fetishism Body parts Armpit Breast Belly Buttocks Eyeball Fat Feet Hands Height Hair Legs Navels Noses Clothing Boots Ballet boots Boot worship Thigh-high boots Clothing Corset Diapers Gloves Pantyhose Latex Rubber and PVC Shoes Spandex Underwear Uniforms Objects Balloons Dolls Latex and PVC Robots Spandex Controversial / illegal Lust murder Necrophilia Rape fantasy Zoophilia Culture / media Artists Fetish art Fetish clubs Fashion Magazines Models Race Asian sexual fetishism Ethnic pornography Sexual racism Related topics BDSM FetLife International Fetish Day Kink Leather subculture Leather Pride flag Sexual roleplay Book Category
Botellón Wikipedia

Characteristics [ edit ] Botellón usually begins around 11:00 p.m. and ends around 3:00 a.m. when many people move to a bar or club. ... Since botellón is usually a nighttime activity, Spain passed a law that prohibits stores to sell alcohol to the public after 10:00 p.m, hoping to persuade people to attend clubs or bars where alcohol must remain on site. [ citation needed ] However, the measure is a controversial one because people can still buy alcohol before the selling limit hour and consume it in public. ... CS1 maint: archived copy as title ( link ) ^ "Media España se cita en la Red para celebrar un macrobotellón el 17 de marzo" . 2006-03-07. ^ http://www.20minutos.es/noticia/97295/0/macrobotellones/ciudades/espana/ | Literally translated from Spanish ^ "El Ayuntamiento "no consentirá" el macrobotellón que se prepara en Moncloa" . 2006-03-07.
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). ... Neurotrauma: New Insights Into Pathology and Treatment . Elsevier. pp. 13–19. ISBN 978-0-444-53017-2 . Retrieved 2008-06-10 . ^ a b Granacher RP (2007). ... 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.
Mechanophilia Wikipedia

ISBN 978-1-59921-403-0 . ^ Alleyne, Richard (26 October 2007). ... Sex Crimes and Paraphilia . Prentice Hall . p. 91. ISBN 0-13-170350-1 . ^ Thompson, Steven L. ... Westport, Connecticut: Praeger . p. 446. ISBN 978-0-313-30503-0 . ^ Kolocotroni, Vassiliki; Goldman, Jane ; Taxidou, Olga (1998). ... New York City: Springer . ISBN 978-0-387-98499-5 . ^ McDonagh, Deana; et al. (2004). ... London: Taylor & Francis . ISBN 978-0-415-30363-7 . ^ Heller, Steven ; Meggs, Philip B. (2001).
Holoprosencephaly Wikipedia

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).

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
  
  A number sign (#) is used with this entry because of evidence that holoprosencephaly-4 (HPE4) is caused by heterozygous mutation in the TGIF gene (602630) on chromosome 18p11. For phenotypic information and a general discussion of genetic heterogeneity in holoprosencephaly, see HPE1 (236100). Cytogenetics Johnson and Bachman (1976) described a normal female who appeared to have a nonreciprocal translocation from the short arm of one chromosome 18 to the long arm of a chromosome 12. She gave birth to a cebocephalic child whose karyotype included an 18p- chromosome. The association of loss of 18p with holoprosencephaly was suggested by the patient reported by Munke et al. (1988); cytogenetic and molecular studies indicated a Y/18 translocation with loss of 18p and distal Yq material in a holoprosencephalic fetus.
- 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
  
  A number sign (#) is used with this entry because of evidence that holoprosencephaly-3 (HPE3) is caused by heterozygous mutation in the SHH gene (600725), which encodes the human Sonic hedgehog homolog, on chromosome 7q36. For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). Clinical Features Berry et al. (1984) and Johnson (1989) provided information on a family (family 2 in Johnson, 1989) in which holoprosencephaly occurred in 2 sibs and their first cousin, who were offspring of parents with a single central maxillary incisor. Johnson (1989) reported a second patient (family 1) with full-blown holoprosencephaly whose mother and sister had only a single central maxillary incisor. Johnson (1989) suggested that holoprosencephaly is a developmental field defect of which the mild forms can be single median incisor, hypotelorism, bifid uvula, or pituitary deficiency.
- 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
  
  Description Holoprosencephaly (HPE) is the most common structural malformation of the human forebrain and occurs after failed or abbreviated midline cleavage of the developing brain during the third and fourth weeks of gestation. HPE occurs in up to 1 in 250 gestations, but only 1 in 8,000 live births (Lacbawan et al., 2009). Classically, 3 degrees of severity defined by the extent of brain malformation have been described. In the most severe form, 'alobar HPE,' there is a single ventricle and no interhemispheric fissure. The olfactory bulbs and tracts and the corpus callosum are typically absent.
- 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.
Monomania Wikipedia

Console and Classify: The French Psychiatric Profession in the Nineteenth Century . University of Chicago Press. ISBN 0-226-30161-3 . ^ a b Eigen, Joel Peter (January 1991). ... Cambridge: Cambridge University Press. ISBN 0-521-43736-9 . ^ Valverde, Mariana (1998-10-28). ... American Psychiatric Society. 2000. p. xxv. ISBN 0-89042-025-4 . ^ Berrios's note states: "Monomania was a diagnosis invented by Esquirol which achieved certain popularity, particularly in forensic psychiatry. ... Cambridge University Press. pp. 426, 447, 453 n. 50. ISBN 0-521-43736-9 . External links [ edit ] Van Zuylen, Marina (2005). ... Ithaca, New York: Cornell University Press. ISBN 978-0-8014-4298-8 . Find out more on Wikipedia's Sister projects Media from Commons Definitions from Wiktionary Data from Wikidata
Agalmatophilia Wikipedia

Agalmatophilia (from the Greek agalma 'statue', and -philia φιλία = love) is a paraphilia involving sexual attraction to a statue , doll , mannequin or other similar figurative object. ... Enquête sur l'amour artificiel ( Dolls and Men - Investigation into Artificial Love ). La Musardine. ISBN 2-84271-252-8 . ... Still Lovers . Channel Photographics. ISBN 0-9766708-1-X . Ellis, Havelock (1927). ... The Dream of the Moving Statue . Cornell University Press. ISBN 0-8014-2702-9 . Kick, Russ (2005). Everything You Know about Sex Is Wrong . ... Royal Pavilion, Art Gallery & Museums. ISBN 0-948723-57-2 . Scobie A, Taylor J.
Jet Lag Wikipedia

Waterhouse et al. [3] recommend: Time zones Local time to avoid light at destination Local time to seek light at destination East 6h 03:00–09:00 11:00–17:00 East 7h 04:00–10:00 12:00–18:00 East 8h 05:00–11:00 13:00–19:00 East 9h 06:00–12:00 14:00–20:00 Travelling east by 10 hours or more is usually best managed by assuming it is a 14-hour westward transition and delaying the body clock. [3] A customised jet lag program can be obtained from an online jet lag calculator.

CLOCK, ARNTL, PER2, SREBF1, DELEC1, XPR1, PER3, BHLHE40, SCD, AVP, ATXN2, PER1, NOS2, COX1, HIF1A, CRY1, TRARG1