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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 (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 (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.
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
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.
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.
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.
These syndromes result after acute and chronic exposure to OP pesticides. Cholinergic syndrome occurs in acute poisonings with OP pesticides and is directly related to levels of AChE activity. ... Paraoxonase ( PON1 ) is a key enzyme involved in OP toxicity and has been found to be critical in determining an organism's sensitivity to OP exposure. PON1 can inactivate some OPs through hydrolysis. PON1 hydrolyzes the active metabolites in several OP insecticides such as chlorpyrifos oxon, and diazoxon, as well as, nerve agents such as soman, sarin, and VX. ... Oxford University Press. pp. 109–112. ISBN 978-0-19-538666-0 . ^ Woodruff T, Janssen S, Guillete L, Giudice L (2010). ... Taylor & Francis. pp. 186–193. ISBN 978-0-7484-0962-4 . ^ a b Doctor B, Saxena A (2005).
There are seven recognized distinct subtypes of IIP. [2] Contents 1 Diagnosis 2 Development 3 References 4 External links Diagnosis [ edit ] Classification can be complex, [3] and the combined efforts of clinicians , radiologists , and pathologists can help in the generation of a more specific diagnosis. [4] [5] Idiopathic interstitial pneumonia can be subclassified based on histologic appearance into the following patterns: [6] [7] Histology Clinical Correlates Desquamative interstitial pneumonia (DIP) DIP Diffuse alveolar damage (DAD) ARDS , AIP , TRALI Nonspecific interstitial pneumonia (NSIP) NSIP Respiratory bronchiolitis RB-ILD Usual interstitial pneumonia (UIP) CVD , IPF , drug toxicity , pneumoconiosis Organizing pneumonia Cryptogenic organizing pneumonia Lymphoid interstitial pneumonia (LIP) LIP Usual interstitial pneumonia is the most common type. [8] Development [ edit ] Table 1: Development of the (histologic) idiopathic interstitial pneumonia classification Leibow et al. (1969) Katzenstein (1998) [9] ATS/ERS (2002) [7] UIP UIP UIP DAD DAD NSIP NSIP DIP DIP/RB DIP RB BIP OPOP LIP ( LPD ) LIP GIP (HMF) (HMF) UIP=usual interstitial pneumonia; DAD=diffuse alveolar damage; NSIP=non-specific interstitial pneumonia; DIP=desquamative interstitial pneumonia; RB=respiratory bronchiolitis; BIP=bronchiolitis obliterans interstitial pneumonia; OP=organizing pneumonia; LIP=lymphoid interstitial pneumonia; LPD= lymphoproliferative disease (not considered a diffuse lung disease); GIP= giant cell interstitial pneumonia ; HMF=heavy metal fibrosis, no longer grouped with diffuse lung disease Lymphoid interstitial pneumonia was originally included in this category, then excluded, then included again. [10] References [ edit ] ^ Richard K. ... Oxford University Press. pp. 833–. ISBN 978-0-19-508103-9 . ^ Mehrjardi, Mohammad Zare (2017). ... Practical Pulmonary Pathology: A Diagnostic Approach. Elsevier Inc. 2005. ISBN 978-0-443-06631-3 . ^ a b American Thoracic, Society; European Respiratory, Society (January 2002).
Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. Page 582. ISBN 0-7216-2921-0 . ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ... Oski's Pediatrics, Principles & Practice . (4th ed.). Page 458. ISBN 978-0-7817-1618-5 . ^ Nelson Textbook of Pediatrics 19th. (10th ed.). ... J Am Acad Dermatol 1986;14:628-32.. ^ Requena L, Sangueza OP. Cutaneous vascular anomalies. Part 1.
This form of nevus, which consists of a patch of pale skin of normal texture, usually on the trunk, was described by Cardoso et al. (1975) in 4 generations of a family in a pedigree pattern consistent with autosomal dominant inheritance with reduced penetrance. Inheritance - Autosomal dominant Skin - Nevus anemicus - Pale skin patch ▲ Close
Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. Page 582. ISBN 0-7216-2921-0 . This Dermal and subcutaneous growths article is a stub .
A practical guide to hip surgery: from pre-op to recovery . Sunrise River Press. ISBN 978-1-934716-12-0 . CS1 maint: ref=harv ( link ) ^ Gould MK, Garcia DA, Wren SM, et al. (2012).
Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 978-0-7216-2921-6 . OCLC 968428064 . ^ a b c Snyder RJ (2005). ... Roxburgh's Common Skin Diseases (17th ed.). p. 127. ISBN 978-0-340-76232-5 . ^ Davies A, Heatley F.
. ^ "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 .
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) .
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).
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.
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 (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).
Hofstad, Iowa State University Press, Ames, Iowa, USA ISBN 0-8138-0430-2 , p. 141. ^ Hassan Iraqui, Observation on an outbreak of fowl cholera in a parental broiler flock, Azrou, Morocco, October 2007, unpublished data. ^ Alberts and Graham (1948), quoted in "Diseases of poultry", op. cit. ^ Botzler. 1991. ... Hofstad, Iowa State University Press, Ames, Iowa, USA ISBN 0-8138-0430-2 , p. 141 External links [ edit ] The Attenuation of the Causal Agent of Fowl Cholera , by Louis Pasteur, 1880 Fowl cholera in the Merck Veterinary Manual Wikimedia Commons has media related to Fowl cholera .
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 .
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.
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 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 (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.
Pearson Education . p. 165. ISBN 978-0-13-170350-6 . ^ King, Moses (1919). ... Rowman & Littlefield Pub Incorporated, 1982: 103. ISBN 978-0-8476-6276-0 . ^ Kippen, Cameron (July 2004). ... China Illustrated: Western Views of the Middle Kingdom . the University of Michigan: Tuttle, 2004. p. 138. ISBN 978-0-8048-3519-0 . ^ Hacker, Authur (2012). ... II , New York: Random House William Rossi (1989), The Sex Life of the Foot and Shoe , Malabar: Krieger Publishing Company. ISBN 0-89464-573-0 Sheila Jeffreys (2005), Beauty and Misogyny: Harmful Cultural Practices in the West , New York: Routledge . ISBN 0-415-35182-0 External links [ edit ] Look up podophilia in Wiktionary, the free dictionary.
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.
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).
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.
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?
In: DAV Panorama 1/2008, ISSN 1437-5923 Pepi Stückl/Georg Sojer: Bergsteigen: Lehrbuch für alle Spielarten des Bergsteigens , Bruckmann, Munich, 1996, ISBN 3-7654-2859-0 v t e Climbing Types Aid Bouldering Clean Competition Crack Deep-water solo Direttissima Face Free Free solo Grass Ice Indoor Lead Rock Mixed Mountaineering Slab Speed Sport Top rope Trad Tree Lists Alpine clubs Climbers Deaths on eight-thousanders Equipment Everest deaths First ascents Knots Mount Hood incidents Terminology Terminology Abseiling Alpenstock Anchor Approach shoe Ascender Bachar ladder Belay device Belaying Bolt Bouldering mat Cam Carabiner Crampons Dry-tooling Dynamic rope Exposure Fifi hook Grades Grade (bouldering) Harness Head for heights Mountaineering boot Hex Ice axe Ice screw Ice tool Nut Picket Pitch Piton Protection Quickdraw Self-locking device Shoes Sling Snow fluke Snow protection Snowshoe Spotting Sure-footedness Tricam Webbing Media Climbing Rock & Ice Mountain film Companies Black Diamond CAMP Cascade Designs Deuter Early Winters Eastern Mountain Sports Five Ten Frostline Kits GERRY Mountain Sports Grivel Holubar Mountaineering JanSport Kelty La Sportiva Lowe Alpine Mammut Marmot Mountain Works Millet Mountain Safety Research Mountain Equipment Co-op Sierra Designs The North Face Therm-a-Rest Outdoor Research Petzl Rab REI Wild Country Organizations Alpine Club Alpine Club of Canada American Alpine Club Appalachian Mountain Club Austrian Alpine Club Austrian Tourist Club Club Alpin Français Club Alpino Italiano Den Norske Turistforening Federación Española de Deportes de Montaña y Escalada Fédération française de la montagne et de l'escalade German Alpine Club International Federation of Sport Climbing International Mountaineering and Climbing Federation South African National Climbing Federation South Tyrol Alpine Club Swedish Tourist Association Swiss Alpine Club USA Climbing Portal Category Commons WikiProject
