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Ichthyosis fetalis

Harlequin ichthyosis (HI), also known as 'ichthyosis fetalis', is an extremely rare autosomal recessive congenital ichthyosis (ARCI) affecting the ABCA12 gene. It is the most severe subtype of ichthyosis. Classified as an autosomal-recessive disease, mutations of the ABCA12 gene in HI causes thickening of the keratin layer in the skin. ichthyosis fetalis: 1. Synonym(s): harlequin fetus 2. recessive condition in Holstein and Norwegian red poll cattle resembling harlequin fetus in humans

Harlequin ichthyosis; harlequin baby; ichthyosis congenita; keratosis diffusa fetalis; harlequin fetus Definition Severe form of congenital ichthyosis, characterized by profound thickening of the keratin layer in fetal skin, producing a horny shell of platelike scale and contraction abnormalities of the eyes, ears, mouth, and appendage Inherited forms of ichthyosis, or generalized scaling of the skin, have been reported in many animal species, including cattle, and are characterized by an autosomal recessive mode of inheritance. We investigated 2 calves affected with ichthyosis fetalis, a Polled Hereford and a Shorthorn. Both case Both animals, affected by ichthyosis fetalis and ichthyosis congenita, respectively, showed diffuse cutaneous thickening which had been present since birth. The first patient was a three-month-old. ichthyosis fetalis the ichthyosis affecting a harlequin fetus.. Medical dictionary. 2011

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Plod harlekýn (také Harlequin-type ichthyosis, harlequin ichthyosis, ichthyosis congenita, ichthyosis fetalis, keratosis diffusa fetalis) je kožní, vrozené, autozomálně recesivní onemocnění řadící se v MNK/ICD jako Q.80.4. a jedná se o nejzávažnější formu vrozené ichthyózy, které se vyznačuje především hromaděním keratinových vrstev v pokožce plodu a jedná se. K potvrzení ichthyosis vulgaris se často používá také genetické testování. Co je plod harlekýn a jak vážný tento druh ichtyózy je? Plod harlekýn (též ichtyóza typu harlekýn, vrozená ichtyóza, ichthyosis fetalis nebo ichthyosis congenita) je vzácná vrozená forma ichtyózy

Ichthyosis Fetalis Article - StatPearl

A Shorthorn calf with ichthyosis fetalis was investigated and a likely causal missense variant on chromosome 2 in the ABCA12 gene (NM_001191294.2:c.6776T>C) was identified by whole genome sequencing Ichthyosis fetalis synonyms, Ichthyosis fetalis pronunciation, Ichthyosis fetalis translation, English dictionary definition of Ichthyosis fetalis. n. Any of a group of chiefly genetic disorders that are characterized by dry, scaly, and often thickened skin. n a congenital disease in which the skin is.. ichthyosis fetalis (also referred to as harlequin ichthyosis). 3,5 Ichthyosis fetalis has been reported in several cattle breeds including the Norwegian Red Poll, Swiss breeds, Belgian White and Red breeds, Chianina, and Hanwoo.3,4,6,10 Cattle with this severe form are either stillborn or die shortly afte Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. Harlequin ichthyosis is characterized by a profound thickening of the keratin layer in fetal skin. The affected neonate is born with a massive, horny shell of dense, platelike scale and contraction abnormalities of the eyes, ears, mouth, and appendages.

Ichthyosis fetalis: an emerging lethal condition endangering the Belgian White and Red cattle breed. HUNGARIAN VETERINARY JOURNAL (Vol. 130, pp. 334-334). Presented at the XXV Jubilee World Buiatrics Congress. Chicago author-date. Cornillie, Pieter, Steven Cools, Leen Vandaele, Aart de Kruif, and Paul Simoens. 2008. Ichthyosis Fetalis: An. Ichthyosis poses animal welfare and economic issues and the more severe form, ichthyosis fetalis, is lethal. A Shorthorn calf with ichthyosis fetalis was investigated and a likely causal missense variant on chromosome 2 in the ABCA12 gene (NM_001191294.2:c.6776T>C) was identified by whole genome sequencing Synonyme sind: Ichthyosis congenita gravis; Harlekinfetus; Ichthyosis congenita Riecke I; Keratosis diffusa maligna; Ichthyosis congenita fetalis; Hyperkeratosis universalis congenita; Ichthyosis congenita universalis; Harlequin ichthyosis; ARCI; Ichthyose, kongenitale, Typ Harlequin; Ichthyosis fetalis vom Harlekin Typ. Die Erstbeschreibung stammt aus dem Jahre 1880 von Robert William Smith. Ichthyosis is a dermatological disease characterized by varying degrees of generalized hyperkeratosis and alopecia. Two congenital forms of ichthyosis are recognized in animals: fetalis (IF) and congenita. The disease occurs rarely in cattle, swine, dogs, chickens and a goat; it has not been reported in sheep Synonyms for Ichthyosis fetalis in Free Thesaurus. Antonyms for Ichthyosis fetalis. 11 words related to ichthyosis: congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition.... What are synonyms for Ichthyosis fetalis

Ichthyosis fetalis definition of ichthyosis fetalis by

NOMENCLATURE The term ichthyosis, derived from the Greek word [unk]χθύς (fish), has been used to designate keratosis, a condition in which the skin bears a fancied resemblance to the skin of fishes. It is, however, only in rare cases that the skin resembles somewhat the fish skin, the comparison appearing to be far fetched in the majority of cases of keratosis, both in the mild and in. Looking for Ichthyosis fetalis? Find out information about Ichthyosis fetalis. A severe form of ichthyosis characterized by cracked, thickened skin and mucous membranes Explanation of Ichthyosis fetalis Ichthyosis Fetalis Harlequin Fetus None Harlequin ichthyosis is a rare genetic skin disorder. A study published in 2011 in the Archives of Dermatology concluded, Harlequin ichthyosis should be regarded as a severe chronic disease that is not invariably fatal Define Ichthyosis fetalis. Ichthyosis fetalis synonyms, Ichthyosis fetalis pronunciation, Ichthyosis fetalis translation, English dictionary definition of Ichthyosis fetalis. n. Any of a group of chiefly genetic disorders that are characterized by dry, scaly, and often thickened skin. American Heritage® Dictionary of the English..

Ichthyosis fetalis SpringerLin

  1. The disease is also known by other names like Itcthyosis Fetalis, Keratosis Diffusa Fetalis and Itchyosis Congenita. Babies with this disorder are also known as Harlequin babies. History of Harlequin Ichthyosis. This is a rare disease that has been reported since the 18 th century. In the later part of the early decade of twentieth.
  2. Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma
  3. Virolainen E et al. (2001) Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma. Br J Dermatol 145: 480-483 Ward PS et al. (1989) Successful treatment of a harlequin fetus

Ichthyosis Fetalis in Polled Hereford and Shorthorn Calve

  1. Inherited forms of ichthyosis, or generalized scaling of the skin, have been reported in many animal species, including cattle, and are characterized by an autosomal recessive mode of inheritance..
  2. ichthyosis have been described in various breeds of cattle, ichthyosis fetalis and ichthyosis congenita. Both are caused by single autosomal recessive genes. Ichthyosis foetalis (IF) is an covering the entire body and enclosed by inflamed fissures. Ichthyosis fetalis is the more severe and lethal form. Affected calves ar
  3. Ichthyosis Fetalis; Harlequin Fetus; Disorder Subdivisions. None; General Discussion. Harlequin ichthyosis is a rare genetic skin disorder. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Harlequin infants need to.
  4. Harlequin ichthyosis — also known as harlequin baby syndrome, harlequin fetus, and ichthyosis fetalis — is a rare but serious genetic condition that can be immediately identified at birth. Babies born with the disease suffer from overly thickened skin that resembles thick scales (ichthyosis comes from the Greek word for fish.
  5. BACKGROUND Ichthyosis is a dermatological disease characterized by varying degrees of generalized hyperkeratosis and alopecia. Two congenital forms of ichthyosis are recognized in animals: fetalis (IF) and congenita. The disease occurs rarely in cattle, swine, dogs, chickens and a goat; it has not been reported in sheep. HYPOTHESIS/OBJECTIVES To provide clinical, laboratory and pathological.
  6. Inherited forms of ichthyosis, or generalized scaling of the skin, have been reported in many animal species, including cattle, and are characterized by an autosomal recessive mode of inheritance..
  7. CONCLUSIONS AND CLINICAL IMPORTANCE: This case report describes a case of presumptive ichthyosis fetalis in a lamb. Greater awareness by practitioners is required for this disease to be included in the differential diagnosis of dermatopathies in this species. PMID: 28585294 [PubMed - as supplied by publisher]..

(PDF) Ichthyosis fetalis in Polled Hereford and Shorthorn

ichthyosis fetalis, a defective lipid transport in keratinocytes caused by a single locus autosomal recessive gene defect has recently been identified as the cause of the disorder. Pedigree information of the calves combined with additional information of three other calves of the same breed allowed the identificatio One condition is that does this is called as Harlequin Ichthyosis(HI), Harlequin baby syndrome or Ichthyosis Fetalis, which is a rare and severe genetic disorder that affects the skin of the infants per se. This condition prevents the skin from performing its primary function, which is as a protector. It prevents formation of protective layer.

ichthyosis fetalis - medicine

Ichthyosis is a family of genetic skin disorders characterized by dry, scaling skin that may be thickened or very thin. Harlequin ichthyosis is the most severe form of congenital ichthyosis. It is also known as Harlequin baby, Harlequin ichthyosis , ichthyosis congenita , Ichthyosis fetalis , keratosis diffusa fetalis , Harlequin fetus, and. The affected child will already display the very distinct characteristics of the disease when born. The entire body will be covered with scaly, cracked and very thick skin. The disease is also known as Harlequin-type ichthyosis, ichthyosis congenita, keratosis diffusa fetalis and Ichthyosis fetalis English-Spanish medical dictionary . ichthyosis fetalis. Interpretación Traducció ламеллёзная [эпидермальная] десквамация новорождённых, врождённый ихтиоз, ламеллярный.

Ichthyosis - NH

Inherited forms of ichthyosis, or generalized scaling of the skin, have been reported in many animal species, including cattle, and are characterized by an autosomal recessive mode of inheritance. We investigated 2 calves affected with ichthyosis fetalis, a Polled Hereford and a Shorthorn Harlequin-type ichthyosis. Harlequin-type ichthyosis (tiež harlequin ichthyosis, ichthyosis congenita, ichthyosis fetalis, keratosis diffusa fetalis, česky, Plod Harlekýn), je kožné, vrodené, autozomálne recesívne ochorenie radiace sa v MNK / ICD ako Q.80.4. a jedná sa o najvážnejšiu formu vrodenej ichthyózy, ktoré sa vyznačuje predovšetkým hromadením keratínových vrstiev v. Two clinical forms of ichthyosis in cattle have been reported, ichthyosis fetalis and congenital ichthyosis. Ichthyosis poses animal welfare and economic issues and the more seve What's Ichthyosis? In people with typical skin, the outer layer, or the skin, contains cells which can be continually dividing and then being shed. People with ichthyosis, however, often have skin cells which reproduce at an alarming rate that is a lot quicker than they can be shed, or scales that do not shed at all, therefore causing a build. ichthyosis: Definition Derived from two Greek words meaning fish and disease, ichthyosis is a congenital (meaning present at birth) dermatological (skin) disease that is represented by thick, scaly skin. Description The ichthyoses are a group of skin diseases caused by an abnormality in skin growth that results in drying and scaling. There.

Ichthyosis See Code: Q80.9 acquired L85.0 fetalis Q80.4 hystrix Q80.8 lamellar Q80.2 lingual K13.29 palmaris and plantaris Q82.8 simplex Q80.0 vera Q80.8 vulgaris Q80.0 X-linked Q80. <span> <h5>Hintergrund</h5> <p>Bei der Ichthyose handelt es sich um eine dermatologische Erkrankung, die durch ein unterschiedliches Ausmaß an generalisierter. Lamellar Ichthyosis may affect anyone regardless of gender, age or ethnic group. Differential Diagnosis (Other conditions with similar appearance) Ichthyosis Fetalis Ichthyosis Vulgaris, Hereditary and Acquired Ichthyosis, X-Linked Rud Syndrome Sjogren-Larsson Syndrome. Diagnosis Key Points Diagnosis based on appearance of symptoms in the. There are many major types of ichthyosis, including: Heritable Ichthyosis Vulgaris. The most typical kind, affecting about 95 percent of people with ichthyosis. Skin may appear normal when a young child exists but symptoms often appear by age five in the latest. All elements of the body could be affected, and is often connected with atopic.

dict.cc | Übersetzungen für 'harlequin ichthyosis [Ichthyosis congenita Ichthyosis fetalis Ichthyosis gravis Keratosis diffusa fetalis Ichthyosis congenita gravior]trallala' im Englisch-Deutsch-Wörterbuch, mit echten Sprachaufnahmen, Illustrationen, Beugungsformen,. ichthyosis fetalis的中文意思:胎儿鱼鳞病,查阅ichthyosis fetalis的详细中文翻译、发音、用法和例句等 A well-marked case of pseudo-leprosy or ichthyosis, a scale-like affection of the skin, unsightly, obstinate, but possibly curable, and certainly non-infective. Derived terms . dysplastic ichthyosis; harlequin ichthyosis, harlequin type ichthyosis; ichthyosis bullosa; ichthyosis congenita; ichthyosis fetalis; ichthyosis hystrix; ichthyosis vulgari Learn in-depth information on Harlequin Ichthyosis, its causes, symptoms, diagnosis, complications, treatment, prevention, and prognosis. Please Remove Adblock Adverts are the main source of Revenue for DoveMed

harlequin ichthyosis [Ichthyosis congenita, Ichthyosis fetalis, Ichthyosis gravis, Keratosis diffusa fetalis, Ichthyosis congenita gravior]med. harlequin-type ichthyosis [Ichthyosis congenita, Ichthyosis fetalis, Ichthyosis gravis, Keratosis diffusa fetalis, Ichthyosis congenita gravior]med. lamelläre Ichthyose {f} lamellar ichthyosismed ichthyosaur - any of several marine reptiles of the Mesozoic having a body like a porpoise with dorsal and tail fins and paddle-shaped limb ichthyosis is a topic covered in the Taber's Medical Dictionary.. To view the entire topic, please sign in or purchase a subscription.. Taber's Cyclopedic Medical Dictionary Online + App from F.A. Davis and Unbound Medicine. Find 65,000 medical and nursing definitions Harlequin-type ichthyosis is a genetic disorder which results in thickened skin over nearly the Synonyms, Harlequin ichthyosis, hyosis fetalis, keratosis diffusa fetalis, harlequin fetus ichthyosis congenita gravior. Harlequin Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis

Video: Plod harlekýn - Wikipedi

Ichthyosis Fetalis. Jun 22, 2017. Ichthyosis Fetalis. Essential It is feasible that the major title of the record Ichthyosis, Harlequin Type is not the name you anticipated. Buffoon ichthyosis is an uncommon hereditary skin problem. Buffoon ichthyosis is acquired as an autosomal recessive characteristic All subjects discussed in the present study provided informed consent for the use of their data in the present report. Discussion. HI, otherwise known as keratosis diffusa fetalis, is a distinct form of congenital ichthyosis, which occurs due to mutation in the ABC transporters ABCA12, a cell membrane transporter associated with lipid transportation (1,12) Two fatal instances of premature infants with ichthyosis fetalis of gravis type in two successive pregnancies are reported. In each case the skin was represented by a thick horny cuirass resembling plates of armor, not compatible with normal growth and development Ichthyosis is a dermatological disease characterized by varying degrees of generalized hyperkeratosis and alopecia. Two congenital forms of ichthyosis are recognized in animals fetalis (IF) and congenita. The disease occurs rarely in cattle, swine, dogs, chickens and a goat; it has not been reported in sheep. HYPOTHESIS Ichthyosis fetalis information including symptoms, causes, diseases, symptoms, treatments, and other medical and health issues

Disorders of keratinization | Basicmedical Key

HARLEQUIN ICHTHYIOSIS I ICHTHYIOSIS CONGENITA I ICHTHYIOSIS FETALIS I HARLEQUIN BABY SYNDROME Harlequin ichthyosis is a severe genetic skin disorder that mai.. ictiosis fetal. English-Spanish medical dictionary . 2013. Ichthyosis fetalis Nix et al. (1963) claimed that this recessive form of ichthyosis is distinct from the lamellar exfoliative type of congenital ichthyosis (see 242300). Goldsmith (1976) agreed with the distinctness of this entity from lamellar ichthyosis. It carries a more grave prognosis (Shelmire, 1955).The baby is usually of low birth weight for dates and, as a rule, dies under 1 week of age

Ichtyóza: co to je, jaké jsou příčiny, příznaky a léčba

Harlequin ichthyosis is caused by changes (mutations) in the ABCA12 gene, which gives instructions for making a protein that is necessary for skin cells to develop normally. It plays a key role in the transport of fats (lipids) to most superficial layer of the skin (epidermis), creating an effective skin barrier The purpose of this report was to present the case of dystocia due to ichthyosis fetalis in a non-descriptive she-buffalo and the clinical features of ichthyosis fetalis calf. The full term primiparous non descriptive buffaloe was presented with the complaint of straining since 12 hrs. After careful physical, clinical, per vaginal examination.

harlequin ichthyosis - medicine.academic.ru i. fetalis ichthyosis is a topic covered in the Taber's Medical Dictionary.. To view the entire topic, please sign in or purchase a subscription.. Nursing Central is an award-winning, complete mobile solution for nurses and students. Look up information on diseases, tests, and procedures; then consult the database with 5,000+ drugs or refer to 65,000+ dictionary terms Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. Harlequin ichthyosis is characterized by a profound thickening of the keratin layer in fetal skin Harlequin-type ichthyosis is a genetic disorder that results in thickened skin over nearly the entire body at birth. The skin forms large, diamond-shaped plates that are separated by deep cracks. These affect the shape of the eyelids, nose, mouth, and ears and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties

An ABCA12 missense variant in a Shorthorn calf with

Harlequin ichthyosis Disease name: Harlequin ichthyosis ICD 10: Q80.4 Synonyms: Harlequin baby, ichthyosis congenita, Ichthyosis fetalis, keratosis diffusa fetalis, Harlequin fetus, Ichthyosis congenita gravior Disease summary: Harlequin ichthyosis (HI) is an autosomal recessive congenital ichthyosis. HI is an extremely rare and most severe. Ichthyosis fetalis; skin keratinization, calf birth weight Charlier et al. 2008; Cole et al. 2014 Tennessen and Akey 2011 ACTN3 Actinin, alpha 3 BRM chr29:45,230,630-45,242,406 Skeletal and cardiac muscle Gu et al. 2009; MacArthur et al. 2007 NPR2 Atrial natriuretic peptide receptor 2 precursor BR

Ichthyosis fetalis: an emerging lethal condition endangering the Belgian White and Red cattle breed By Pieter Cornillie, Steven Cools, Leen Vandaele, Aart de Kruif and Paul Simoens Topics: Veterinary Science Summary. Harlequin ichthyosis (HI) is an autosomal recessive congenital ichthyosis. HI is an extremely rare and most severe form of ichthyosis. The condition is caused by mutation of the ABCA12 gene resulting in impaired lipid transport in the outermost layer of the skin, the epidermis.During the neonatal period, harlequin ichthyosis manifests phenotypically as dramatic large polygonal plate. Harlequin Ichthyosis is severe, rare congenital disorder which is caused by mutation of ABCA12 genes which leads to dysfunction of lipid layer of skin and characterised by dry, scaly skin with thickening of keratin layer of skin. This disease is also known as ichthyosis congenital & keratosis diffusa fetalis A severe neonatal form can present in utero or perinatally with hydrops fetalis, congenital ichthyosis, or both. [emedicine.medscape.com] [ncbi.nlm.nih.gov] The phenotype was unusually severe with congenital ichthyosis , hepatosplenomegaly, muscular hypotonia, myoclonus and respiratory failure The oral mucosae of the lips and muzzle appeared histologically normal. Mitotic chromosomes were visualised with conventional staining and RBA-banding from non-synchronised cultures of peripheral blood lymphocytes of the affected calves and their relatives (De Grouchy and others 1964, Dutrillaux and others 1973). No abnormality was detected in either the structure or the number of chromosomes

babies with harlequin ichthyosis are not aliens - YouTube

An ABCA 12 missense variant in a Shorthorn calf with

Prenatal diagnosis of ichthyosis fetalis by fetal skin biopsy : ABSTRACTS OF PAPERS PRESENTED at the TWENTY-SEVENTH ANNUAL MEETING of the JAPANESE TERATOLOGY SOCIETY TOKYO, JAPAN, JULY 17-18, 1987 SUZUMORI K. , YAGAMI Y. , KANZAKI T. , YAZAWA T. Congenital anomalies 27(3), 327, 1987-09-3 Search for abbreviations and long forms in lifescience, results along with the related PubMed / MEDLINE information and co-occurring abbreviations This disorder, also called ichthyosis fetalis, prevents the skin from forming a protective layer. Instead, it produces hard, scalelike, diamond-shaped plates separated by deep ridges. The deep ridges between the distinctive plates severely compromise the body's first line of defense against toxins, bacteria and pollution, and the hard plates.

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Ichthyosis fetalis - definition of Ichthyosis fetalis by

ichthyosis fetalis; ichthyosis follicularis; Look at other dictionaries: Ichthyosis. harlequin ichthyosis i. fetalis fish skin disease, xeroderma, a skin disease characterized by sharply increased keratogenesis and retarded keratolysis. Incidence of ichthyosis is a familial condition in half the cases and hereditary in 25 percent Harlequin-type ichthyosis (also known as Harlequin baby, Harlequin ichthyosis, ichthyosis congenita, Ichthyosis fetalis, keratosis diffusa fetalis, Harlequin fetus, and Ichthyosis congenita gravior), 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. Ichthyosis fetalis: calves are born dead or die within a few days. Ichthyosis congenita: signs may be present at birth or appear over several weeks after birth. Epidemiology. Simple autosomal recessive trait. Affects approximately 25% of offspring when both parents are carriers. Diagnosi

Ichthyosis fetalis in Polled Hereford and Shorthorn calve

ABCA12 (ENSG00000144452) is associated with Lamellar ichthyosis (Orphanet_313) through evidence in the Open Targets Platform from GWAS, clinical trials, differential expression experiments, pathways, text mining and experiments in animal models Define ichthyosis hystrix. ichthyosis hystrix synonyms, ichthyosis hystrix pronunciation, ichthyosis hystrix translation, English dictionary definition of ichthyosis hystrix. n. Any of a group of chiefly genetic disorders that are characterized by dry, scaly, and often thickened skin. American Heritage® Dictionary of the English.. Ichthyosis is a disease of the skin characterized by a morbid development of the papillae and thickening of the epidermic lamellae; according as the skin is affected over a larger or smaller area, or only the epithelial lining of the follicles, it is known as ichthyosis diffusa, or ichthyosis follicularis Browse information about Harlequin ichthyosis (Orphanet_457) covering related drugs, phenotypes and literature text mining. Synonyms: ichthyosis fetalis, Harlequin type; HI; ichthyosis congenita, Harlequin fetus type

Harlequin Ichthyosis: Background, Etiology, Epidemiolog

autosomal recessive congenital ichthyosis 4B (DOID:0060713) Alliance: disease page Synonyms: ARCI4B; harlequin ichthyosis; harlequin type ichthyosis congenita; harlequin type ichthyosis fetalis Alt IDs: OMIM:242500, ICD10CM:Q80.4, ORDO:457 Definition: An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and. Harlequin-type ichthyosis (also known as Harlequin baby,[1] Harlequin ichthyosis,[1] ichthyosis congenita,[1] Ichthyosis fetalis, keratosis diffusa fetalis, Harlequin fetus,[2]:562 and Ichthyosis congenita gravior[1]), a skin disease, is the most severe form of congenital ichthyosis, characterized by a thickening of the keratin layer in fetal human skin

Gaucher Disease - Physiopedia
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