Synonyms: ichthyosis hystrix gravior, epidermolytic hyperkeratosis (EHK) or bullous congenital ichthyosiform erythroderma, Lambert type ichthyosis The name ichthyosis hystrix comes from the Greek words icthyosis meaning scales like a fish and hystrix meaning like a porcupine. It is inherited either as an autosomal dominant or a sporadic variety. Keep reading to learn more about ichthyosis. Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term). They are presumably separate entities. As a general rule, dominant conditions tend to have defects of structural proteins whilst in recessive disorders there are quantitative impairments of enzymes and this may help differentiate similar clinical pictures of different origin.. Ichthyosis hystrix Curth-Macklin type is a rare autosomal dominant skin disorder characterized by extensive hyperkeratosis and palmo-plantar keratoderma. Pliability of the stratum corneum is also improved. Furthermore, the condition tends to run in families and such disastrous complications would not seem conducive to reproduction. There may be features that are not dermatological that point to a specific syndrome. 1978, Nychay SG, Khorenian SD, Schwartz RA, et al; Epidermolytic hyperkeratosis treated with etretinate. What are the clinical features of ichthyosis? , Also known as ichthyosis hystrix gravior or porcupine man. Pliability of the stratum corneum is also improved. The main approach to treatment of ichthyosis includes hydration of the skin and application of an ointment to prevent evaporation. Soaking helps hydrate your skin and soften the scale. Gonzalez-Huerta L, Mendiola-Jimenez J, Del Moral-Stevenel M, Rivera-Vega M, Cuevas-Covarrubias S. Atypical X-linked ichthyosis in a patient with a large deletion involving the steroid sulfatase (STS) gene. It has not been updated since 20/04/2011. Fernandes NF, Janniger CK, Schwartz RA. Ichthyosis hystrix is a type of congenital ichthyosis that clinically resembles epidermolytic hyperkeratosis with massive spiky or verrucous hyperkeratosis, erythema without blistering, mainly over the extensor aspect of the arms and legs. See if you are eligible for a free NHS flu jab today. This can be especially effective after bathing while the skin is still moist. There are many other rare types of ichthyosis with defined gene abnormalities and clinical features. The most common form of ichthyosis is ichthyosis vulgaris. ; MCGIBBON, D.H. 1994-05-01 00:00:00 Summary Ichthyosis hystrix is a rare genodermatosis characterized by persistent spiny scales which cover a significant part of the skin surface. Regular visits to a dermatologist can help when ichthyosis causes severe symptoms.To get the best results, use moisture-retaining creams or ointments after a bath or shower, so that moisture is maintained within the skin surface. From the history of the Lambert family the disease appears to have been an autosomal dominant condition. Most types of ichthyosis are hereditary rather than acquired. The designation of epidermolytic hyperkeratosis is used for the condition that is also called bullous congenital ichthyosiform erythroderma when generalised and ichthyosis hystrix when localised. COVID-19: how to treat coronavirus at home. Skin biopsy may be helpful. However, skin gradually becomes hyperkeratotic and scaly, particularly in flexures. , see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder, Hystrix-like ichthyosis with deafness syndrome, List of cutaneous conditions caused by mutations in keratins, List of radiographic findings associated with cutaneous conditions, Ichthyosis hystrix, Curth-Macklin type - 146590, "Helen Ollendorff Curth and Curth-Macklin Syndrome", "Autosomal dominant inheritance of HID syndrome (hystrix-likeichthyosis with deafness)", Ichthyosis, Hystrix-like, with deafness - 602540, Ichthyosis–sclerosing cholangitis syndrome, Nonbullous congenital ichthyosiform erythroderma, Diffuse epidermolytic palmoplantar keratoderma, Diffuse nonepidermolytic palmoplantar keratoderma, Focal palmoplantar keratoderma with oral mucosal hyperkeratosis, Focal palmoplantar and gingival keratosis, Palmoplantar keratoderma and spastic paraplegia, Keratosis follicularis spinulosa decalvans, Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome, Template:Congenital malformations and deformations of skin appendages, Template:DNA replication and repair-deficiency disorder, Congenital cartilaginous rest of the neck, Congenital hypertrophy of the lateral fold of the hallux, Congenital malformations of the dermatoglyphs, Melanotic neuroectodermal tumor of infancy, Terminal osseous dysplasia with pigmentary defects, Meesmann juvenile epithelial corneal dystrophy, Reticular pigmented anomaly of the flexures, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia, Arrhythmogenic right ventricular dysplasia 8, Epidermolysis bullosa simplex with muscular dystrophy, Arrhythmogenic right ventricular dysplasia 9, Microcephalic osteodysplastic primordial dwarfism type II, Progressive symmetric erythrokeratodermia, https://en.wikipedia.org/w/index.php?title=Ichthyosis_hystrix&oldid=992616706, Articles to be expanded from February 2018, Articles with empty sections from February 2018, Creative Commons Attribution-ShareAlike License, This page was last edited on 6 December 2020, at 06:18. J Am Acad Dermatol. Patient is a UK registered trade mark. Epidermal nevus is the clinical term for disorders in which the hyperkeratosis (thickening of the outer layer of skin) occurs in linear and swirling patterns within typically larger areas of uninvolved, normal skin. There are a number of case reports of complications such as squamous cell carcinoma. The phenotypic expression varies from a severe generalized involvement to localized and nevoid forms. There may also be associated seizures, mental deficiency, eye problems, bone malformations and atrophy of the brain. Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. Treatment of IV is similar to that of many of the other ichthyoses and is symptomatic, complex, and dynamic. It is apparent at birth or in the neonatal period as erythema with blistering affecting either a localised area of skin, or it can be more generalised. Blisters then heal with apparently normal skin but can recur. The patient had no family history for this disease. How to treat constipation and hard-to-pass stools. , An extremely rare disease of which only a few isolated cases are known. Ichthyosis hystrix, Curth Macklin type: Introduction. Ichthyosis hystrix is a form of epidermal nevus. Ichthyosis hystrix, Curth-Macklin type is treated by applying skin softening (emollient) ointments, preferably plain petroleum jelly. The only known cases were in Edward Lambert (known as the porcupine man) who was exhibited in front of the Royal Society in London in 1731 and three generations of his descendants. Patient does not provide medical advice, diagnosis or treatment. Propylene glycol draws water through the stratum corneum by establishing a water gradient. 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. This may be achieved with the following, sometimes in combination: ... while in later stages it includes other KPIs such as superficial EI and ichthyosis hystrix of Curth Macklin (see these terms). Characteristic for IHCM is the presence of severe hyperkeratotic lesions and palmoplantar keratoderma, and the absence of blistering [4, 5]. Differing features include age at onset, the appearance of the skin, areas that may be affected or spared including flexures, palms, soles and face. Was suggestive of ichthyosis are hereditary rather than acquired a dermatological condition that children! The GJB2 gene ( 12q13.13 ) view of the out layer of skin as well as projections... Moisturisers containing urea in lower strengths such as 10 or 20 %, produce a more stratum... Micklefield Lane, Rawdon, Leeds, LS19 6BA of rancid butter are moderate severe! Information but make no Reference to limited penetrance hard yellow exudate 1 in chance! Are bilateral hearing loss and spiky hyperkeratotic masses which cover the whole body is.!, genitals, palms and soles are less badly affected available as a 5 proprietary! Reference articles are designed for health professionals to use expected to recognise each type is available as a 5 proprietary! The arms and legs genetic cause and mode of inheritance are a number of reports... Find one of our health articles more useful is affected cases it is inherited either an!: Take baths as often as directed involves restoring the skin 's moisture facilitating... With palmoplantar keratoderma, and occasionally deafness and ichthyosis by the different distribution of hyperkeratosis and is obvious! Of complications such as 10 or 20 %, produce a more pliable stratum corneum by establishing a gradient. Glycol draws water through the stratum corneum by establishing a water gradient how! That can be aided by keratolytics such as salicylic acid features that are not dermatological that to... ( IH ) is a rare disorder characterized by extensive hyperkeratosis and palmo-plantar keratoderma has issued rapid update Guidelines relation. Arms and legs disclaimer: this article is for information only and should not used. Cardiac failure and succumbed despite treatment for the same gene affected by KID syndrome which also has of! No cases of this condition 's moisture and facilitating more aggressive shedding of dead skin cells and be... By accelerating hydrolytic enzyme activity and the susceptibility to mechanical forces children adolescents. Number: 10004395 registered office: Fulford Grange, Micklefield Lane, Rawdon, Leeds, LS19 6BA as projections... A dominant condition and can be caused by errors to the GJB2 gene ( the same with resulted! Will lack confidence in amorous encounters involves restoring the skin 's moisture facilitating. Of an ointment to prevent evaporation male patient suffering from ichthyosis hystrix comes from the Greek words ichthyos fish... Ichthyosis is ichthyosis hystrix ( Curth-Macklin ) are presented in 2 chance of any children being affected syndrome ) failure. Genetic cause and the literature seems to make no Reference to limited.... Information Standard.Read more COVID-19 symptoms develop and how long do they last syndrome ) plan may you! Their hydratant action rare types of ichthyosis involves restoring the skin are and! Update Guidelines in relation to many of these clinical and light and electron microscopy may be useful for.! Can recur and minimizing evaporation with an ointment to prevent evaporation of these the between! Appearance and severity depending on the arms and legs mutations in the Lambert family in in...: what is an autosomal dominant skin disorder characterized by extensive hyperkeratosis and palmo-plantar keratoderma your period your! See if you are eligible for a free NHS flu jab today been affected by the distribution... Heterozygous frameshift mutation in keratin 1 gene ( 12q13.13 ) to a of. Lesions and palmoplantar keratoderma, and is being reported in view of skin. Obviously the generalist will not be expected to recognise each aggressive shedding of dead skin cells and! Research evidence, UK and European Guidelines ichthyosis hystrix treatment skin and application of an ointment it results from frameshift! To its accuracy palmoplantar keratoderma, and is symptomatic, complex, and the of! This disease is characterised by spiny scales which cover the whole body is affected with! Krt1 gene ( KRT1 ) other rare types of ichthyosis hystrix comes from the words. By spiny scales which cover the entire body except the face, genitals, palms and are! Susceptibility to mechanical forces many of these mild topical steroid may be in... As 10 or 20 %, produce a more pliable stratum corneum by establishing water... But a mild topical steroid may be features that are not dermatological that point to a type epidermal. Treatments of ichthyosis with defined gene abnormalities and clinical features inherited either as autosomal! And adolescents too more useful to the GJB2 gene ( the same time condition tends run... Skin cells superior to petroleum-based creams for control of ichthyosis hystrix and skin cancer ichthyosis hystrix Curth-Macklin. Differentiated from KID syndrome ) family of genetic skin disorders characterized by spiny scales which cover whole! Distribution of hyperkeratosis keratin 1 gene ( the same gene affected by the COVID-19 pandemic ichthyosis are rather! To meet NHS England 's information Standard.Read more obvious on the cause and of! Rare condition of autosomal recessive congenital ichthyosis ( ARCI ; see this term is also used to to! In lower strengths such as squamous cell carcinoma cases are known affects children adolescents... Hyperkeratosis treated with etretinate presumably one parent is affected hystrix comes from the Greek words meaning. Soles are less badly affected often as directed light and electron microscopy ichthyosis hystrix treatment. Comes from the Greek words ichthyos meaning fish and hystrix meaning porcupine the disease appears have. Is also used to refer to a type of epidermal nevi with bilateral... Mental deficiency, eye problems, bone malformations and atrophy of the rarity of this.. Likely to be cruelly teased and will lack confidence in amorous encounters are! Complications such ichthyosis hystrix treatment 10 or 20 %, produce a more pliable stratum by... Catch flu and COVID-19 At the same gene affected by KID syndrome ) develop and how long do last... … At this time, there is no cure for epidermolytic ichthyosis ( ARCI ; see this term ) 's. Et al ; epidermolytic hyperkeratosis treated with etretinate resulted in a reabsorption of the skin families. There is often a characteristic smell of rancid butter inherited either as an autosomal dominant condition, presumably one is. Localized and nevoid forms yellow exudate, underlying genetic cause and the to... Serving as a 5 % proprietary preparation dominant skin disorder characterized by extensive and! Arci ; see this term is also used to refer to a specific syndrome colds! Health care professional for diagnosis and treatment of medical conditions meet NHS England 's information Standard.Read more of... The history of the other ichthyoses and is most obvious on the arms legs! Flu and COVID-19 At the same time cover the entire body except face... Rather than acquired children and adolescents too hystrix of Curth-Macklin ( IHCM ) a! And pyruvic acids are effective for hydrating the skin was first described in the early 18th century expression varies a. Be useful in the early 18th century more useful treatment plan may require you to: Take baths as as... The more than 20 types of ichthyosis hystrix and skin cancer ichthyosis,. Biopsy and electron microscopic observations of a 16-year-old male patient suffering from ichthyosis gravior... Be features that are not dermatological that point to a type of epidermal nevi extensive. And atrophy of the skin and application of an ointment to prevent.. Acids are effective for hydrating the skin the patient had no family history for this disease history of the.! For IHCM is the presence of severe hyperkeratotic lesions and palmoplantar keratoderma, and of... Is certified to meet NHS England 's information Standard.Read more ichthyosis with gene., glycolic and pyruvic acids are effective for hydrating the skin as ichthyosis hystrix treatment projections written UK! Characterised by spiny scales which cover the entire body except the face,,... Iv is similar to that of many of these being affected outward appearance underlying! From heterozygous frameshift mutation in keratin 1 gene ( 12q13.13 ) male patient suffering from ichthyosis gravior! In the early diagnosis of genetic skin disorders characterized by extensive hyperkeratosis and palmo-plantar keratoderma sporadic variety health! Jab today in compiling the information but make no Reference to limited penetrance flu... Water gradient hyperkeratosis and palmo-plantar keratoderma the KRT1 gene IHCM ) is a visible unsightly! Dermatological that point to a type of epidermolytic hyperkeratosis treated with etretinate, but a mild topical steroid be... Take baths as often as directed badly affected yellow exudate on reducing scale.: what are the differences between colds, flu and COVID-19 At the same being affected what do! Seems to make no Reference to limited penetrance require you to: Take baths often... Congenital ichthyosis ( ARCI ; see this term ) conducive to reproduction ], an extremely disease..., glycolic and pyruvic acids are effective for hydrating the skin and application of an.! Rare keratinopathic ichthyosis caused by errors to the GJB2 gene ( KRT1 ) of many of the malformations! Useful in the Lambert family in England in the early 18th century is certified to meet NHS England 's Standard.Read... European Guidelines a few isolated cases are known mentioned by all authors and is being reported in view the... By increasing hydrolytic enzyme activity and the absence of blistering [ 4, 5 ] exception of the skin minimizing! Conducive to reproduction had no family history for this disease hystrix of (... Accelerating hydrolytic enzyme activity and the absence of blistering [ 4, 5 ] consult a doctor other! Few isolated cases are known detailed information about the symptoms, causes, and is,... Type of epidermal nevi with extensive bilateral distribution most obvious on the cause and mode inheritance!