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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.
The first signs of the disease usually are thickened nails or neonatal teeth. At least 3 phenotypes of hypertrophic nail dystrophy of feet and hands can be observed: nail grows to full length but a distal prominent hyperkeratosis causes an upward slant with an accentuated curvature of the nail; nail plate terminates prematurely leaving a distal region of hyperkeratosis and an exposed finger tip; or nail plate is thin with little or no hyperkeratosis.
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.
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. ... Molecular Genetics In affected members of a Slovenian family segregating PC3, Bowden et al. (1995) identified heterozygosity for a 3-bp deletion in the KRT6A gene (148041.0001). Terrinoni et al. (2001) identified 3 novel mutations (148041.0002-148041.0004) and 2 previously identified mutations (see, e.g., 148041.0001) in the KRT6A gene in patients with pachyonychia congenita.
Clinical Features Jackson and Lawler (1951-52) reported 6 affected members of 3 generations of a family with pachyonychia congenita. ... They presented an interesting, illustrated newspaper clipping that described neonatal teeth in persons of 3 generations. The adult teeth were sound. Clementi et al. (1986) described a family in which 3 members in 2 generations had pachyonychia congenita, hyperkeratosis, and hyperhidrosis of the palms and soles, follicular keratosis, neonatal teeth, and epidermoid cysts.
Leukokeratosis and keratoderma of the palms and soles were associated. The family history of 3 of the 5 patients was consistent with autosomal dominant inheritance. ... Inheritance Pachyonychia congenita is inherited as an autosomal dominant trait (Gorlin et al., 1976). Murray (1921) found 7 affected in 3 generations. Kumer and Loos (1935) found 24 affected in 5 generations. ... In a sporadic case of pachyonychia congenita-1, they identified heterozygosity for a 3-bp deletion in KRT16 (148067.0004).
Epithelioma Advanced unspecified epithelioma of the face Specialty Oncology Epithelioma is an abnormal growth of the epithelium , which is the layer of tissue that covers the surfaces of organs and other structures of the body. [1] Contents 1 Classification 2 Treatment 3 Prognosis 4 See also 5 References 6 External links Classification [ edit ] Epitheliomas can be benign growths or malignant carcinomas . ... However, the most common epitheliomas are very easily treated and rarely result in death. [2] The condition did, however, take the life of Scottish golfer Willie Dunn, Sr. in 1878 at a time when the ailment was likely not fully understood. [3] See also [ edit ] Mule spinners' cancer References [ edit ] ^ a b c Encyclopædia Britannica. ... PMID 6823454 . ^ "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 .
Fourth disease Other names Filatov-Dukes' disease Specialty Infectious disease See also: Scarlet fever Dukes' disease , named after Clement Dukes, [1] also known as fourth disease [2] or Filatov-Dukes' disease (after Nil Filatov ), [3] is an exanthem . It is distinguished from measles or forms of rubella , though it was considered as a form of viral rash . [2] Although Dukes identified it as a separate entity, it is thought not to be different from scarlet fever caused by exotoxin-producing Streptococcus pyogenes after Keith Powell proposed equating it with the condition currently known as staphylococcal scalded skin syndrome in 1979. [2] [4] It was never associated with a specific pathogen, [5] and the terminology is no longer in use. [2] However, a mysterious rash of unknown cause in school children often gives rise to the question of whether it could be Dukes' disease. [6] Contents 1 Signs and symptoms 2 Diagnosis 3 References 4 External links Signs and symptoms [ edit ] Signs and symptoms may include fever , nausea , vomiting , and diarrhea , along with typical viral symptoms of sensitivity to light , enlarged lymph nodes , sore throat , and possibly brain inflammation . ... 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?
It is believed botellón has a correlation to an earlier closing times of nightclubs and bars. [ citation needed ] However, today, botellón is a common and accepted custom and is sometimes even regulated in cities. [3] But also in Cáceres, Extremadura in the late 80, Quique and his friends were considered as pioneers of the botellón birth. 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. ... Retrieved March 16, 2010 . ^ "End of the botellón-Town Hall prohibits youths drinking alcohol on the streets of Malaga City" . EuroWeeklyNews.com . July 3, 2009 . Retrieved March 16, 2010 . ^ "Proponen una zona de ocio donde los jóvenes mayores de edad podrán beber alcohol" (in Spanish). ... 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.
J. Invest. Dermatol . 124 (4): 700–3. doi : 10.1111/j.0022-202X.2005.23642.x . ... 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.
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. ... 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.
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).
Equally important, the necessary exposure to light to realign the body clock does not tie in with the day/night cycle at the destination. [3] Travelling east by six to nine time zones causes the biggest problems, as it is desirable to avoid light in the mornings. 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. ... "Jet Lag: It's Symptoms and What you can do to stop it" . Savvysleeper . Retrieved 3 June 2020 . ^ a b c d e f g h i j k l m n o Waterhouse, J; Reilly, T; Atkinson, G; Edwards, B (31 March 2007). ... "Circadian Disruption and Remedial Interventions". Sports Medicine . 42 (3): 185–208. doi : 10.2165/11596850-000000000-00000 . ... "Psychiatric morbidity in travelers to Honolulu, Hawaii". Comprehensive Psychiatry . 36 (3): 224–228. doi : 10.1016/0010-440x(95)90086-b .
The Pap Smear . Taylor & Francis. p. 87. ISBN 3-7186-5857-7 . ^ a b c Zuber, Thomas J.; E. ... 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) .
Dogger Bank itch Specialty Dermatology Dogger Bank itch is a cutaneous condition characterized by a long-lasting dermatitis caused by exposure to the sea chervil , Alcyonidium diaphanum , a bryozoan . [1] The disease, common in fishermen who work in the North Sea , has been recognized by the Danish Workman's Compensation Act since 1939. [2] Contents 1 Pathogenesis 2 Treatment 3 Epidemiology 4 History 5 See also 6 References Pathogenesis [ edit ] The structural formula of the toxin responsible for Dogger Bank itch The rash is caused by a type of cell-mediated hypersensitivity reaction; this type of hypersensitivity normally occurs in people who become sensitized to volatile organic compounds . ... In Dogger Bank itch, sensitivity is acquired after repeated handling of the sea chervils that become entangled in fishing nets. [ citation needed ] The specific toxin responsible for the rash was determined to be the sulfur -bearing salt (2-hydroxyethyl) dimethylsulfoxonium chloride. [3] This salt is also found in some sea sponges and has potent in vitro activity against leukemia cells. [4] Treatment [ edit ] A study of two cases in 2001 suggests that the rash responds to oral ciclosporin . ... The sea chervil, abundant in the area, frequently came up with the fishing nets and had to be thrown back into the water. ... Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 978-0-7216-2921-6 . ^ Bonnevie, P. (1948). ... Comparative Biochemistry and Physiology B . 128 (1): 27–30. doi : 10.1016/S1096-4959(00)00316-X . CS1 maint: multiple names: authors list ( link ) ^ a b Bowers PW, Julian CG., PW; Julian, CG (2001).
While lack of awareness by patient or doctor of adverse drug reactions can have serious consequences, having a phobia of medications can also have serious detrimental effects on patient health, for example refusal of necessary pharmacological interventions. [2] [3] [4] Medication phobia can also lead to problems with medication compliance. [5] Medication phobia can also present in parents who are concerned about giving medications to their children, [6] fearing that the medications will do more harm than good. [7] Medication phobia can be triggered by unpleasant adverse reactions to medications which are sometimes prescribed inappropriately or at excessive doses. ... 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).
The hypoglycemia is the result of the tumors producing insulin-like growth factor 2 . [2] The syndrome was first described in 1930, by Karl Walter Doege (1867–1932), a German-American physician [3] and by Roy Pilling Potter (1879–1968), an American radiologist, working independently; [4] the full term Doege–Potter syndrome was infrequently used until the publication of a 2000 article [5] using the eponym . [6] DPS is rare (as of 1976, less than one hundred cases were described [7] ), with a malignancy rate of 12–15%. ... 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). ... Z Gesamte Inn Med (in German). 31 (3): 77–81. PMID 785836 . ^ Briselli M, Mark EJ, Dickersin GR (June 1981). ... 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
It is most frequently found on the nose, cheeks, ears, dorsum of the hand, and arms (places that are most exposed to light). [3] Contents 1 Causes 2 Natural History 3 Diagnosis 4 Treatment 5 See also 6 References 7 External links Causes [ edit ] Hydroa vacciniforme is commonly associated with reactivation of a latent Epstein-Barr virus (EBV) formerly acquired by an asymptomatic or infectious mononucleosis -causing infection]]. ... 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).
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.
The lens may be covered by a semi-translucent membrane in some case. [3] Tumor may invade locally to involve the iris or anterior retina, or through the cornea or sclera. ... American Journal of Ophthalmology . 85 (3): 407–418. doi : 10.1016/S0002-9394(14)77739-6 . ^ a b McLeanIW, Burnier MN, Zimmerman LE, Jakobiec FA. ... 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. ... Radiologic clinics of North America . 25 (3): 471–86. PMID 3554332 . ^ De Potter, Patrick; Shield, Carol L.; Shields, Jerry A.; Flanders, Adam E. ... 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.
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.
Specialty Neurosurgery , oncology Medulloepithelioma is a rare, primitive, fast-growing brain tumour thought to stem from cells of the embryonic medullary cavity . [1] Tumours originating in the ciliary body of the eye are referred to as embryonal medulloepitheliomas, [1] or diktyomas . [2] A highly malignant undifferentiated primitive neuroepithelial tumour of children, medulloepithelioma may contain bone , cartilage , skeletal muscle , and tends to metastasize extracranially. [2] Contents 1 Signs and symptoms 2 Diagnosis 2.1 Classification 3 Treatment 4 Prognosis 5 Epidemiology 6 References 7 External links Signs and symptoms [ edit ] Medulloepithelioma have been reported to occur in the cerebral hemispheres , brainstem , cerebellum , and peripheral sites . [3] [4] [5] [6] Due to rapid growth of the tumour, patients typically present with increased intracranial pressure , seizures , and focal neurologic signs . [7] Diagnosis [ edit ] Neuronal differentiation, ranging from neuroblasts to ganglion cells, is seen in some medulloepitheliomas. ... Medulloepithelioma appears isodense or hypodense with variable heterogeneity and calcification on non-contrast CT scan, and enhances with contrast. [3] This radiographical finding is consistent with a primitive neuroectodermal tumour, especially in children. [6] Blood studies and imaging studies of the abdomen may be used to detect metastases. [6] Needle aspiration biopsy can be used to aid diagnosis. [6] Definitive diagnosis requires histopathological examination of surgically excised tumour tissues. ... Treatment [ edit ] Total resection of the tumour, followed by radiation therapy is the standard treatment modality. [3] Medulloepithelioma of the ciliary body may necessitate enucleation of the eye. [13] [14] Radiation therapy alone may prolong survival. [3] Aggressive chemotherapy with autologous bone marrow transplant is used for metastatic medulloepitheliomas. [6] Prognosis [ edit ] Medulloepithelioma carries a dismal prognosis with a median survival of 5 months. [3] [15] [16] [17] Epidemiology [ edit ] Medulloepithelioma most commonly affect children between 6 months and 5 years; rarely, this tumour may occur congenitally or beyond this age range. [8] [18] [19] Incidence is equal in males and females. [3] References [ edit ] ^ a b Definition of Medulloepithelioma Archived 2015-12-25 at the Wayback Machine , from Online Medical Dictionary. ... External links [ edit ] Classification D ICD-O : M9501/3 MeSH : D018242 SNOMED CT : 39005004 v t e Tumours of the nervous system Endocrine Sellar : Craniopharyngioma Pituicytoma Other: Pinealoma CNS Neuroepithelial ( brain tumors , spinal tumors ) Glioma Astrocyte Astrocytoma Pilocytic astrocytoma Pleomorphic xanthoastrocytoma Subependymal giant cell astrocytoma Fibrillary astrocytoma Anaplastic astrocytoma Glioblastoma multiforme Oligodendrocyte Oligodendroglioma Anaplastic oligodendroglioma Ependyma Ependymoma Subependymoma Choroid plexus Choroid plexus tumor Choroid plexus papilloma Choroid plexus carcinoma Multiple/unknown Oligoastrocytoma Gliomatosis cerebri Gliosarcoma Mature neuron Ganglioneuroma : Ganglioglioma Retinoblastoma Neurocytoma Dysembryoplastic neuroepithelial tumour Lhermitte–Duclos disease PNET Neuroblastoma Esthesioneuroblastoma Ganglioneuroblastoma Medulloblastoma Atypical teratoid rhabdoid tumor Primitive Medulloepithelioma Meninges Meningioma Hemangiopericytoma Hematopoietic Primary central nervous system lymphoma PNS : Nerve sheath tumor Cranial and paraspinal nerves Neurofibroma Neurofibromatosis Neurilemmoma / Schwannoma Acoustic neuroma Malignant peripheral nerve sheath tumor Other WHO classification of the tumors of the central nervous system Note: Not all brain tumors are of nervous tissue, and not all nervous tissue tumors are in the brain (see brain metastasis ). v t e Eye neoplasm Melanoma Uveal melanoma Ciliary body melanoma Other Medulloepithelioma / Diktyoma Intraocular lymphoma Orbital lymphoma Optic nerve sheath meningioma Optic nerve tumor Retinoblastoma Schwannoma Visual pathway glioma
Kasabach–Merritt syndrome Other names Hemangioma-thrombocytopenia syndrome Specialty Hematology Kasabach–Merritt syndrome , also known as hemangioma with thrombocytopenia [1] is a rare disease , usually of infants , in which a vascular tumor leads to decreased platelet counts and sometimes other bleeding problems , [2] which can be life-threatening. [3] It is also known as hemangioma thrombocytopenia syndrome . It is named after Haig Haigouni Kasabach and Katharine Krom Merritt , the two pediatricians who first described the condition in 1940. [4] [5] Contents 1 Pathophysiology 2 Diagnosis 3 Management 3.1 Supportive care 3.2 Definitive treatment 4 Prognosis 5 See also 6 References 7 External links Pathophysiology [ edit ] Kasabach–Merritt syndrome is usually caused by a hemangioendothelioma or other vascular tumor, often present at birth. [6] [7] Although these tumors are relatively common, they only rarely cause Kasabach–Merritt syndrome. [ citation needed ] When these tumors are large or are growing rapidly, sometimes they can trap platelets , causing severe thrombocytopenia . ... 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
Larsen et al. (1987) reported their 15-year experience managing 6 children with capillary hemangiomas associated with consumptive coagulopathy. In 3 of their patients, the hemangiomas remained small for many months and then suddenly enlarged, with the simultaneous appearance of a hemorrhagic diathesis.
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.
Contents 1 Signs and symptoms 2 Causes 2.1 Genetics 2.2 Non-genetic factors 3 Prognosis 4 See also 5 References 6 External links Signs and symptoms [ edit ] Symptoms of holoprosencephaly range from mild (no facial/organ defects, anosmia , or only a single central incisor ) to moderate to severe ( cyclopia ). ... Pediatric Neuroradiology: Brain, Head, Neck and Spine . 1 . Springer . pp. 92–95. ISBN 978-3-540-41077-5 . ^ Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, Westphal H, Beachy PA (October 1996). ... Current Opinion in Genetics & Development . 10 (3): 262–9. doi : 10.1016/s0959-437x(00)00084-8 . ... 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).
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.
Mutation analysis of the TGIF gene in 268 DNA samples of patients with HPE detected 4 heterozygous missense mutations in the coding region (602630.0001-602630.0004), 1 of which was identified in familial HPE and 3 of which were identified in clinically sporadic cases. ... Microdeletions were identified in 8 (8.5%) fetuses: 2 in SHH, 2 in SIX3, 3 in ZIC2, and 1 in TGIF. Further analysis showed that the entire gene was missing in each case. ... The facial features were assigned to 4 categories: categories 1 and 2 had severe facial defects, whereas microforms were listed as 3 and 4. TGIF mutations were found in 11 (1.7%) probands and tended to be associated with a severe phenotype, with alobar HPE and severe facial defects.
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.
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.
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 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 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.
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. ... Ardinger and Bartley (1988) reported a family in which 3 individuals in 3 successive generations had severe brain anomalies and 12 individuals had minor manifestations, mainly microcephaly. ... Cytogenetics Pfitzer and Muntefering (1968) observed 4 affected children whose mothers were relatives and had the same anomalous karyotype thought to represent balanced translocation between chromosome 3 and a chromosome of the C group. With the introduction of G-banding techniques, Pfitzer et al. (1982) demonstrated that this reciprocal 7/C-translocation was a balanced rearrangement between the short arm of chromosome 3 and the distal part of the long arm of chromosome 7--t(3;7)(p23;q36). ... Microdeletions were identified in 8 (8.5%) fetuses: 2 in SHH, 2 in SIX3, 3 in ZIC2, and 1 in TGIF. Further analysis showed that the entire gene was missing in each case. ... The facial features were assigned to 4 categories: categories 1 and 2 had severe facial defects, whereas microforms were listed as 3 and 4. SHH mutations were found in 67 (10.4%) probands.
In the report by Ming et al. (2002), 3 families studied had an asymptomatic parent with normal cognitive function who carried the same mutation as the offspring with holoprosencephaly.
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.
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. ... Dominok and Kirchmair (1961) reported a family in which 3 children were affected: 1 had cyclopia and 2 had premaxillary agenesis. ... Holoprosencephaly is associated with a diagnostic face approximately 80% of the time. Barr and Cohen (2002) reported 3 sibs with autosomal recessive alobar holoprosencephaly and essentially normal faces. ... They suggested that HPE may be due to mutation in more than 1 gene and that intrafamilial variability is due to multiple genetic 'hits.' They noted 3 patients who had a mutation in SHH and a second HPE gene (Nanni et al., 1999). ... Analysis of the HPE patient-derived somatic cell hybrid showed that SIM2 (see 600892) was not deleted in 2 of the 3 patients and thus was not a likely candidate for HPE1.
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.
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). "Treatment of psoriasis: an algorithm-based approach for primary care physicians" . American Family Physician . 61 (3): 725–33, 736. PMID 10695585 . Retrieved 30 Mar 2011 . ^ Prinz JC (June 2001). ... 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). ... The Cochrane Database of Systematic Reviews . 3 : CD011571. doi : 10.1002/14651858.CD011571.pub2 .
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.
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A number sign (#) is used with this entry because autosomal recessive hyper-IgE recurrent infection syndrome-2 (HIES2) is caused by homozygous or compound heterozygous mutation in the DOCK8 gene (611432) on chromosome 9p24. Description Autosomal dominant hyper-IgE recurrent infection syndrome-1 (HIES1; 147060) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999). Autosomal recessive HIES2 shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES1 by the lack of connective tissue and skeletal involvement (Renner et al., 2004). See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006). For a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see 147060.
DOCK8 immunodeficiency syndrome is a disorder of the immune system. The condition is characterized by recurrent infections that are severe and can be life-threatening. The infections can be caused by bacteria, viruses, or fungi. Skin infections cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling. People with DOCK8 immunodeficiency syndrome also tend to have frequent bouts of pneumonia and other respiratory tract infections. Other immune system-related problems in people with DOCK8 immunodeficiency syndrome include an inflammatory skin disorder called eczema , food or environmental allergies, and asthma. DOCK8 immunodeficiency syndrome is characterized by abnormally high levels of an immune system protein called immunoglobulin E (IgE) in the blood; the levels can be more than 10 times higher than normal for no known reason.
Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE) , recurrent staphylococcal skin abscesses , and recurrent pneumonia . The same features are also seen in the more frequent autosomal dominant HIES syndrome . AR-HIES accounts for only a small minority of HIES cases, with about 130 affected families reported so far. In contrast to AD-HIES, the AR variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum ; involvement of the central nervous system; T-cell defects; and a high death rate. The dental, skeletal, connective tissue, and facial features present in AD-HIES are absent in AR-HIES.
Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE). Epidemiology Prevalence is unknown. To date, 11 patients in eight families have been reported. Clinical description Patients present in childhood with symptoms including atopic dermatitis, severe food and environmental allergies, asthma, recurrent upper and lower respiratory tract infections including otitis media, recurrent sinusitis, bronchitis and pneumonia, and extensive cutaneous viral and bacterial infections including superficial, often ulcerating herpes simplex virus infections, flat and verrucous warts, molluscom contagiosum infections, S. aureus skin infections or abscesses, mucosal or nail candidiasis and otitis externa. Patients with long-term herpes simplex virus infections, human papillomavirus infections or molluscom contagiosum have developed vulvar, facial and anal squamous cell dysplasia and carcinoma. The neurologic, vasculitic and autoimmune symptoms associated with autosomal dominant hyper IgE syndrome due to mutations in STAT3 (see this term), are not observed.
Contents 1 Signs and symptoms 2 Pathophysiology 3 Diagnosis 4 Treatment 5 Prognosis 6 Epidemiology 7 History 8 References 9 External links Signs and symptoms [ edit ] The signs and symptoms of DOCK8 deficiency are similar to the autosomal dominant form, STAT3 deficiency. ... Pneumatocele may be treated with surgery, but the benefit is unclear. [3] Surgical treatment is also recommended for skin abscesses , along with topical and systemic antibiotics and antifungals. [3] Long-term treatment with systemic antibiotics, including trimethoprim/sulfamethoxazole , penicillins , and cephalosporins , is effective in preventing skin and lung infections. Other treatments used in DOCK8 deficiency include sodium cromoglycate , which improves white blood cell function, and isotretinoin , which improves skin condition. [3] Sometimes, Intravenous immunoglobulin is used as a treatment, but its benefits have not been proven. ... Though early research on hematopoietic stem cell transplantation was equivocal, later research has shown it to improve immune function. [3] Two patients have been cured by bone marrow transplantation. [5] Cyclosporine A is a current topic of research; preliminary results have shown it to be effective. [3] Prognosis [ edit ] Children with DOCK8 deficiency do not tend to live long; sepsis is a common cause of death at a young age. ... "Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome" . Disease Markers . 29 (3–4): 131–139. doi : 10.3233/DMA-2010-0737 .
Infection is rare despite high exposure, and can be related to a defective immune system . [3] In dogs, females and Collies are most commonly affected. [4] The first human case was identified in 1964 in Sierra Leone . [5] Contents 1 Cause 2 Treatment 3 In cattle 4 In dogs 5 See also 6 References 7 External links Cause [ edit ] Photomicrograph of Prototheca wickerhamii infection in a human. ... This may be due to delayed recognition and treatment. [3] See also [ edit ] Progressive disseminated histoplasmosis List of cutaneous conditions References [ edit ] ^ Tartar A, Boucias DG, Adams BJ, Becnel JJ (2002). ... Textbook of Veterinary Internal Medicine (4th ed.). W.B. Saunders Company. ISBN 978-0-7216-6795-9 . ^ Lass-Flörl C, Fille M, Gunsilius E, Gastl G, Nachbaur D (2004). ... Vet Clin North Am Small Anim Pract . 30 (5): 1091–101. doi : 10.1016/S0195-5616(00)05008-7 . PMID 11033876 . ^ Lee W, Lagios M, Leonards R (1975). ... "Longitudinal analysis of Prototheca zopfii-specific immune responses: correlation with disease progression and carriage in dairy cows" . J Clin Microbiol . 41 (3): 1181–6. doi : 10.1128/JCM.41.3.1181-1186.2003 .
Contents 1 Acinar adenocarcinoma of the lung 2 Acinar adenocarcinoma of the prostate 3 References 4 External links Acinar adenocarcinoma of the lung [ edit ] Adenocarcinoma ( "adeno" = "gland", "carcinoma" = cancer of epithelium ) is the most common type of lung cancer in the U.S., Japan, and most of Western Europe, although it is the second most common form in Eastern parts of Europe (after squamous cell carcinoma ). [2] Adenocarcinomas are exceptionally heterogeneous neoplasms, occurring in four major tissue architectures (acinar, papillary, bronchioloalveolar, and solid), and several rarer variants. ... Lyon: IARC Press. ISBN 92-832-2418-3 . Archived from the original (PDF) on 2009-08-23 . ... Zhonghua Zhong Liu Za Zhi (in Chinese). 10 (4): 280–3. PMID 3248485 . ^ Jia X, He A, Zhang D, Wang E, Song J (October 2001). ... Surg . 97 (2): 245–51. doi : 10.1016/S0022-5223(19)35331-0 . PMID 2915561 . ^ Chapelier A, Fadel E, Macchiarini P, et al. ... Eur J Cardiothorac Surg . 18 (5): 513–8. doi : 10.1016/S1010-7940(00)00537-6 . PMID 11053809 . ^ Nishio H, Nakamura S, Horai T, Ikegami H, Matsuda M (March 1992).
