Harlequin-type ichthyosis (also harlequin ichthyosis, ichthyosis congenita, or keratosis diffusa fetalis), a skin disease, is the most severe form of congenital ichthyosis, characterized by a thickening of the keratin layer in fetal human skin. In sufferers of the disease, the skin contains massive, diamond-shaped scales, and tends to give off a reddish color. In addition, the eyes, ears, mouth, and other appendages may be abnormally contracted. The scaly keratin greatly limits the child's movement. Because the skin is cracked where normal skin would fold, it is easily pregnable by bacteria and other contaminants, resulting in serious risk of fatal infection. Image File history File links Question_book-new. ... Image File history File links Size of this preview: 271 × 598 pixelsFull resolution‎ (367 × 810 pixels, file size: 53 KB, MIME type: image/jpeg) File historyClick on a date/time to view the file as it appeared at that time. ... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... A congenital disorder is a medical condition or defect that is present at or before birth (for example, congenital heart disease). ... Ichthyosis is a family of genetic dermatological conditions seen in humans and domestic animals. ... Not to be confused with kerogen or carotene. ... For other uses, see Fetus (disambiguation). ... This article is about modern humans. ... This article is about the organ. ... For other uses, see Eye (disambiguation). ... For other uses, see Ear (disambiguation). ... For other uses, see Mouth (disambiguation). ... Phyla/Divisions Actinobacteria Aquificae Bacteroidetes/Chlorobi Chlamydiae/Verrucomicrobia Chloroflexi Chrysiogenetes Cyanobacteria Deferribacteres Deinococcus-Thermus Dictyoglomi Fibrobacteres/Acidobacteria Firmicutes Fusobacteria Gemmatimonadetes Nitrospirae Omnibacteria Planctomycetes Proteobacteria Spirochaetes Thermodesulfobacteria Thermomicrobia Thermotogae Bacteria (singular, bacterium) are a major group of living organisms. ... The Lachine Canal, in Montreal, is badly polluted Pollution is the release of harmful environmental contaminants, or the substances so released. ...

Sufferers are known as harlequin fetuses, harlequin babies, or harlequins.

The harlequin-type designation comes from both the baby's apparent facial expression and the diamond-shape of the scales (resembling the costume of Arlecchino), which are caused by severe hyperkeratosis. The disease can be diagnosed in the uterus by way of fetal skin biopsy or by morphologic analysis of amniotic fluid cells obtained by amniocentesis. In addition, doctors can now usually recognize common features of the disease through ultrasound, and follow up with 3D ultrasound can diagnose the condition. For other uses, see Rhombus (disambiguation). ... “Arlecchino” redirects here. ... Hyperkeratosis results when an excess of proteins called keratins are produced. ... In general, diagnosis (plural diagnoses) has two distinct dictionary definitions. ... This article is about female reproductive anatomy. ... The amniotic sac is a tough but thin transparent pair of membranes which holds a developing embryo (and later fetus) until shortly before birth. ... Amniocentesis (also referred to as amniotic fluid test or AFT), is a medical procedure used in prenatal diagnosis of genetic risk factors, in which a small amount of amniotic fluid, which contains fetal tissues, is extracted from the amnion or amniotic sac surrounding a developing fetus, and the fetal DNA... For other uses, see Ultrasound (disambiguation). ...

History

The disease has been known since around 1750, and was first described in the diary of Rev. Oliver Hart:

"On Thursday, April þe 5, 1750, I went to see a most deplorable object of a child, born the night before of one Mary Evans in 'Chas'town. It was surprising to all who beheld it, and I scarcely know how to describe it. The skin was dry and hard and seemed to be cracked in many places, somewhat resembling the scales of a fish. The mouth was large and round and open. It had no external nose, but two holes where the nose should have been. The eyes appeared to be lumps of coagulated blood, turned out, about the bigness of a plum, ghastly to behold. It had no external ears, but holes where the ears should be. The hands and feet appeared to be swollen, were cramped up and felt quite hard. The back part of the head was much open. It made a strange kind of noise, very low, which I cannot describe. It lived about forty-eight hours and was alive when I saw it."

Over a hundred cases have been reported worldwide in modern times. Neither gender nor ethnicity seem to affect the likelihood of a child having the disorder. A disproportionately high number of children have consanguineous parents.Those from families with a history of severe skin disorders may have a higher risk of birthing a harlequin child.

Features

The features of sufferers are deformed facially and cranially. The ears may be very poorly developed or absent entirely, as may the nose. The eyelids are severely everted (ectropion), which leaves the eyes and the area around them very susceptible to trauma. They often bleed upon birth. The lips, pulled by the dry skin, are fixed into a wide grimace (eclabium). Arms, feet, and fingers are almost always deformed in such a way that they cannot bend properly, and may be below the normal size. They present hypoplasia in the fingers; therefore, they cannot grab things properly, or they can barely touch them. Polydactyly, a condition in which one has more than the usual number of toes or fingers, has also been found in these infants. For other uses, see Nose (disambiguation). ... An eyelid is a thin fold of skin that covers and protects an eye. ... Ectropion is a condition of loose eyelids. ... For other uses, see Lip (disambiguation). ... This article is about upper limb of an animal. ... For other uses, see Foot (disambiguation). ... For other uses, see Finger (disambiguation). ... Hypoplasia is an incomplete or arrested development of an organ or a part [1]. It is descriptive of many medical conditions such as: Underdeveloped breasts during puberty. ... This article is about the human congenital disorder (disease). ...

They are extremely susceptible to changes in temperature due to their armor-like skin, which prevents normal heat loss. This can result in hyperthermia. Their respiration is also restricted by the skin, which impedes the chest wall from expanding and drawing in enough air. This can lead to hyperventilation and respiratory failure. Harlequins are often dehydrated, as their plated skin is not well suited to keeping water in. For other uses, see Temperature (disambiguation). ... Hyperthermia in its advanced state referred to as heat stroke or sunstroke, is an acute condition which occurs when the body produces or absorbs more heat than it can dissipate. ... Among quadrupeds, the respiratory system generally includes tubes, such as the bronchi, used to carry air to the lungs, where gas exchange takes place. ... Wikipedia does not yet have an article with this exact name. ... In medicine, hyperventilation (or hyperpnea) is the state of breathing faster or deeper (hyper) than necessary, and thereby reducing the carbon dioxide concentration of the blood below normal. ... Respiratory failure is a medical term for inadequate gas exchange by the respiratory system. ... Dehydration is the removal of water (hydor in ancient Greek) from an object. ... Impact from a water drop causes an upward rebound jet surrounded by circular capillary waves. ...

Treatment and prognosis

In the past, the disorder was invariably fatal, whether due to dehydration, infection (sepsis), restricted respiration due to the plating, or other related causes. The most common cause of death was systemic infection and sufferers rarely survived for more than a few days. However, there have been improvements in care, most notably the drug Isotrex. Some patients have survived into adolescence and, in very rare cases, lived to adulthood. Dehydration (hypohydration) is the removal of water (hydro in ancient Greek) from an object. ... An infection is the detrimental colonization of a host organism by a foreign species. ... Sepsis (in Greek Σήψις, putrefaction) is a serious medical condition, resulting from the immune response to a severe infection. ... In animal physiology, respiration is the transport of oxygen from the ambient air to the tissue cells and the transport of carbon dioxide in the opposite direction. ... Isotretinoin is a drug used for the treatment of acne. ... Teen redirects here. ...

Notable cases

United Kingdom

A Real Families documentary broadcast on ITV1 in the United Kingdom in 2005 (and later rebroadcast in other countries) showed the lives of two pairs of sisters afflicted with the condition: Lucy and Hannah Betts (ages 18 and 15), and Dana and Lara Bowen (ages 8 and 1½). The girls all went through a daily routine of getting up early in the morning and bathing for two hours to soften the skin, scrubbing hard to remove as much of the hard extra skin as possible, and then covering their entire bodies in a thick layer of moisturiser. A second and third "creaming" as they called it had to be performed in the afternoon and at bedtime to soften the skin. Even with this treatment a thick layer of hyperkeratotic skin covered them and they were plagued with infections. Scales on the inside of the eyelids had blinded one of Lucy's eyes and left the other eye with 10% vision. Hannah Betts also suffers from cerebral palsy. Their skin was said to grow at fourteen times the normal rate. Vacuuming the carpets was necessary at least a couple of times a day to remove the shed skin.^[1]. A documentary on Five in 2008 showed the same children three years later after major advances in medical technology. ITV1 is the name, in England, Wales and the Scottish borders, for a terrestrial, free-to-air television channel, broadcast in the United Kingdom by the ITV network. ... Year 2005 (MMV) was a common year starting on Saturday (link displays full calendar) of the Gregorian calendar. ... Cerebral palsy (CP) is an umbrella term encompassing a group of non-progressive,[1] non-contagious conditions that cause physical disability in human development. ...

The children were said to be four of just seven in the United Kingdom, Lucy being the longest surviving of any such child in the country ever. The chances of suffering from the condition were given as roughly one in a million in general. These figures would indicate that one in 500 people have the recessive allele, giving a one-in-250,000 chance of two unrelated people bringing these alleles together, and finally there being a one-in-four chance of these alleles being brought together and causing the condition. For a non-technical introduction to the topic, see Introduction to genetics. ...

The chances of any one person with the disease mating with an unaffected person to produce a child who is also a sufferer would be about 1 in 2000.

U.S.

In San Diego a young man, Ryan González, has this condition and has not only survived to adulthood but also thrives as a triathlete.^[2] His treatment involves dosing with isotretinoin (also known as Accutane), the constant use of lotions to keep the skin supple, and use of a very high-caloric diet of at least 7,500 calories a day, including a nightly feeding tube of pure protein due to the constant shedding of his skin, which is believed to shed ten to forty times faster than unaffected skin. Isotretinoin (INN) (pronounced or [1]) is a medication used for the treatment of severe acne. ... Isotretinoin is a drug used for the treatment of acne. ...

References

• Akiyama M (1999). "The pathogenesis of severe congenital ichthyosis of the neonate". J Dermatol Sci. 21 (2): 96–104. doi:10.1016/S0923-1811(99)00024-9. PMID 10511478. 
• Moskowitz DG, Fowler AJ, Heyman MB, et al (2004). "Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure". J Pediatr. 145 (1): 82–92. doi:10.1016/j.jpeds.2004.03.052. PMID 15238912. 

Year 2007 (MMVII) was a common year starting on Monday of the Gregorian calendar in the 21st century. ... July 3 is the 184th day of the year (185th in leap years) in the Gregorian calendar. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ...

External links

• A Case Of Harlequin Fetus With Psoriasis In His Family. Article from the Internet Journal of Pediatrics and Neonatology.
• Medical Article from FIRST Foundation
• Hospital photos and diagrams
• Information from the U.S. National Institutes of Health
• Genetic information