Ichthyosis linearis circumflexa ilc is a rare congenital dermatosis, which may be inherited as an autosomal recessive trait. Ichthyosis linearis circumflexa and nethertons syndrome with. A case of ichthyosis linearis circumflexa successfully. Netherton syndromeichthyosis linearis circumflexabamboo hair.
Autosomal recessive congenital ichthyoses, which include lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis, are rare. Ns is caused by spink5 mutations, which lead to absent or sometimes reduced expression of the serine protease inhibitor lekti. Triad of trichorrhexis invaginata, ichthyosis linearis circumflexa. Ilc, and an atopic diathesis usually are seen in ns 4. Netherton syndrome ns, mim256500 is an autosomal recessive disorder that includes ichthyosis linearis circumflexa ilc and a predisposition to allergies, asthma, and.
Netherton syndromeichthyosis linearis circumflexabamboo. The condition is occasionally referred to as comelnetherton syndrome. Two patients with typical features of both ichthyosis linearis circumflexa and nethertons syndrome are reported. Piyush kumar, rc gharami, avijit mondal and kalyan ghosh, department of dermatology, medical college, kolkata, india. Ichthyosis presents at birth with erythroderma and subsequently evolves into ichthyosis linearis circumflexa. Netherton syndrome is a genodermatosis in which ichthyosis linearis circumflexa is accompanied by characteristic hair shaft abnormalities and atopic diathesis. Netherton syndrome is a rare, autosomal recessive disorder that is characterized by congenital ichthyosis, trichorrhexis invaginata, and atopic diathesis. Netherton syndrome is a disorder that affects the skin, hair, and immune system. Ichthyosis linearis circumflexa pdf ichthyosis linearis circumflexa is a distinctive skin condition of generalized hyperkeratosis and polycyclic and serpiginous erythematous plaques with a. Xlinked ichthyosis abbreviated xli is a skin condition caused by the hereditary deficiency of the steroid sulfatase sts enzyme that affects 1 in 2000 to 1 in 6000 males. Ichthyosis linearis circumflexa is a distinctive skin condition of generalized hyperkeratosis and polycyclic and serpiginous erythematous plaques with a. Some improvement is noted in most patients with age. View enhanced pdf access article on wiley online library html view download pdf for offline viewing.
Pdf ichthyosis linearis circumflexa as the only clinical. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance e. The patient responded positively to treatment with topical tacrolimus, suggesting that abnormalities in the immunoregulatory mechanism may be involved in the pathogenesis of ilc. Pdf ichthyosis linearis circumflexa with bamboo hair. A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with ichthyosis linearis circumflexa. Ichthyosis linearis circumflexa genetic and rare diseases. Researched pathways related to ichthyosis linearis circumflexa include pathogenesis, proteolysis, cornification, localization, secretion. Ichthyosis linearis circumflexa genetic and rare diseases nih. Ichthyosis linearis circumflexa ilc, the characteristic cutaneous finding, develops later. Ichthyosis linearis circumflexa, genetic disease, also. Dec 18, 2017 comel first coined the term ichthyosis linearis circumflexa in 1949, although more than two decades earlier rille fruhwald had previously recorded the distinctive features of ichthyosis linearis circumflexa. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry.
In older children and adults the scaling may have a distinctive circular pattern ichthyosis linearis circumflexa. Ichthyosis linearis circumflexa definition of ichthyosis. Evidence of hair shaft abnormalities and impaired immunity could not be found. Netherton syndrome should be at the top of the differential diagnosis list in a newborn with erythroderma and abnormallooking scalp hair, or in an older child with ichthyosis linearis circumflexa and sparse lustreless hair. Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. Examination of abnormal hair under microscope shows trichorrhexis invaginata defects of the hair shafts. We report a case of ichthyosis linearis circumflexa ilc without the typical atopic manifestations and deformities of the hair shaft. Ichthyosis linearis circumflexa as the only clinical. It is characterized by a marked decrease of the desmosometonofilament system, lack of membrane coating granules and keratohyalin, and the. Request pdf clearance of ichthyosis linearis circumflexa with balneophototherapy we report a yearold boy suffering from severe ichthyosis linearis circumflexa. D icd ichthyosis bullosa of siemens ichthyosis follicularis ichthyosis prematurity syndrome ichthyosis sclerosing cholangitis syndrome nonbullous congenital ichthyosiform erythroderma ichthyosis linearis circumflexa ichthyosis hystrix. Ichthyosis linearis circumflexa, journal of cutaneous. The patient responded positively to treatment with topical tacrolimus, suggesting that abnormalities in the immunoregulatory mechanism may be involved in. Nb uvb phototherapy can be considered a rational approach with regard to the side effects of topical therapies and the variable results obtained from systemic retinoids in the management of this disorder.
A case of ichthyosis linearis circumflexa in a 9year old boy is reported here for its rarity. Read ichthyosis linearis circumflexa, journal of cutaneous pathology on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Nethertons syndrome and ichthyosis linearis circumflexa. Ichthyosis linearis circumflexa as the only clinical manifestation of netherton syndrome. A case of ichthyosis linearis circumflexa successfully treated with.
Ichthyosis linearis circumflexa stock image c0064029. Ichthyosis linearis circumflexa ilc presents as serpiginous and migratory erythematous patches wit. Ichthyosis bullosa of siemens ichthyosis follicularis ichthyosis prematurity syndrome ichthyosis sclerosing cholangitis syndrome nonbullous congenital ichthyosiform erythroderma ichthyosis linearis circumflexa ichthyosis hystrix. Many different metaphors such as alligator, collodion, crocodile, fish, and porcupine skin have been used to describe the various types and stages of. It manifests as collodion baby at birth and refractory erythroderma during infancy and early childhood days. We report a yearold boy suffering from severe ichthyosis linearis circumflexa. Recessive xlinked ichthyosis rxli is an uncommon condition, affecting 1 in 6000 males.
Netherton syndrome with ichthyosis linearis circumflexa and. Ichthyosis linearis circumflexa is a characteristic serpiginous migratory annularpolycyclic rash with doubleedged scale, it is pathognomonic for nethertons syndrome. In a small number of people, a group of diseases called ichthyosis causes. Chronic diarrhea in an adolescent girl with a genetic skin. Netherton syndrome ichthyosis linearis circumflexa bamboo hair.
Links to pubmed are also available for selected references. Dec 31, 2015 ichthyosis linearis circumflexa is a rare form of ichthyosis characterized by polycyclic and annular lesions which are bordered by a doubleedged scale. Many different metaphors such as alligator, collodion, crocodile, fish, and porcupine skin have been used to describe the various types and stages. An electron microscopical study of skin from 2 patients with ichthyosis linearis circumflexa and trichorrhexis invaginata revealed a severe and localized disturbance of keratinization occuring at the keratotic border of figurate skin lesions. Xli can also occur in the context of larger deletions causing contiguous gene syndromes. Nov 21, 2019 ichthyosis linearis circumflexa is a distinctive skin condition of generalized hyperkeratosis and polycyclic and serpiginous erythematous plaques with a. It is characterised by migratory, annular and polycyclic erythematous patches with doubleedged scales at the periphery of the lesions. A japanese infant with localized ichthyosis linearis. Newborns with netherton syndrome have skin that is red and scaly ichthyosiform erythroderma, and the skin may leak fluid. Trichorrhexis invaginata netherton syndrome or bamboo hair. Ichthyosis linearis circumflexa comel with trichorrhexis.
Signs of the disorder are present at birth in one fifth of affected infants. A,b widespread, erythematous, polycyclic, scaly eruption with doubleedged scales. The study of ichthyosis linearis circumflexa has been mentioned in research publications which can be found using our bioinformatics tool below. Many things can leave your skin dry and flaky, from cold air to the chlorine in swimming pools. Netherton syndrome is a genodermatosis in which ichthyosis linearis circumflexa is accompanied by. Get premium, high resolution news photos at getty images. Ichthyosis, xlinked definition of ichthyosis, xlinked by. There appears to be an increased risk of cutaneous squamous cell carcinoma. Browse az genetic and rare diseases information center. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for ichthyosis linearis. The term psoriasiform ichthyosis is proposed to include ichthyosis linearis circumflexa nethertons syndrome, and perhaps other variants of ichthyosis with psoriasiform features which do not appear to fit into the existing classification of ichthyosiform dermatoses. Jun 28, 2019 ichthyosis linearis circumflexa in a child. Ichthyosis linearis circumflexa general discussion netherton syndrome is a rare hereditary disorder characterized by scaling skin, hair anomalies, increased susceptibility to atopic eczema a skin condition that can result in dry, red and flaky skin, elevated ige levels, and other related symptoms.
Ilc is rarely an isolated skin manifestation, but most commonly a part of netherton syndrome ns. Ichthyosis linearis circumflexa malakar s, lahiri k, sengupta. We prescribed oral acitretin 25 mg once daily and instructed the patient to apply petroleum jelly. Corneodesmosomal cadherins are preferential targets of. Xlinked ichthyosis an overview sciencedirect topics. Netherton syndrome ns is a rare autosomalrecessive disorder characterized by a clinical triad of ichthyosis linearis circumflexa. The ichthyosis support group isg was formed in 1997 by a group of individuals affected by ichthyosis to create a network of parents, sufferers and medics, and became a uk registered charity in 2001. Full text full text is available as a scanned copy of the original print version. Ichthyosis linearis circumflexa is a rare, autosomal recessive disorder of keratinization characterized by annular and polycyclic lesions with. Clearance of ichthyosis linearis circumflexa with balneophototherapy. If you have problems viewing pdf files, download the latest version of adobe reader.
The congenital ichthyosiform erythrodermalike features can persist throughout life in the most severe cases or evolve into a unique milder condition known as ichthyosis linearis circumflexa, consisting of migratory, serpiginous, and erythematous plaques, which are bordered by a. This list includes the main name for each condition, as well as alternate names. Ichthyosis linearis circumflexa ilc is a rare dermatological disorder of keratinisation which may be inherited as an autosomal recessive trait. Browse the gard list of rare diseases and related terms to find topics of interest to you. Cases of ichthyosis linearis circumflexa ilc without congenital erythroderma and trichorrhexis invaginata tia case ref age, yearssex ilc ti atopy 1. Ichthyosis vulgaris and xlinked ichthyosis are the most common types of ichthyosis, with an estimated incidence of 1 in 250 births and 1.
A 7 years old girl, born of a nonconsanguineous marriage, presented with multiple asymptomatic dry and scaly patches over her body since infancy. Xli manifests with dry, scaly skin and is due to deletions or mutations in the sts gene. It is characterized by a marked decrease of the desmosometonofilament system, lack of membrane coating granules and keratohyalin, and the appearence of. Introduction ichthyosis linearis circumflexa is a rare, autosomal recessive disorder of keratinization characterized by annular and polycyclic lesions with doubleedged scales. Ichthyosis, netherton syndrome nord national organization. Associated are hair shaft abnormalities, in particular bamboo hair also known as trichorrhexis invaginata, which may lead to diffuse alopecia of the scalp and loss of eyebrows and eyelashes. In 1949, comel1 described ilc as being characterized by generalized erythematous patches accompanied by a migratory, desquamative ring with a doubleedge configuration. Get a printable copy pdf file of the complete article 341k, or click on a page image below to browse page by page. Ichthyosis linearis circumflexa and nethertons syndrome. Full text is available as a scanned copy of the original print version. Ichthyosis is treated by dermatologists who are doctors trained to diagnose and treat diseases of the skin, hair, and nails.
Ichthyosis linearis circumflexa as the only clinical manifestation of netherton syndrome article pdf available in acta dermato venereologica 956 february 2015 with 118 reads. He showed bamboo hairs and aminoaciduria, and was positive for cows. Although these two rare variants of ichthyosis have previously been considered to be distinct, they actually appear to be the same entity manifesting as a peculiar defect in keratinization affecting the skin and hair. Ichthyosis causes dry, thickened skin that may look like fish scales. Ichthyosis linearis circumflexa as the only clinical manifestation of. The disease is usually passed down from your parents. Trichorrhexis invaginata netherton syndrome or bamboo. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. Ichthyosis linearis circumflexa malakar s, lahiri k. Jul 20, 2019 d icd ichthyosis bullosa of siemens ichthyosis follicularis ichthyosis prematurity syndrome ichthyosissclerosing cholangitis syndrome nonbullous congenital ichthyosiform erythroderma ichthyosis linearis circumflexa ichthyosis hystrix. The other associated features are trichorrhexis invaginata bamboo hair and atopy. Costello syndrome kindler syndrome laryngoonychocutaneous syndrome skin fragility syndrome.
Image realized with a dermatoscope each space of the scale corresponds to half a millimeter. Netherton syndrome, eczema, hyper ige syndrome, serum ige, ichthyosis. Creams, lotions, or ointments can relieve dryness or itching. Netherton syndrome with ichthyosis linearis circumflexa. This membrane is usually shed during the first few weeks of life. Some apparently lesssevere cases may present with excess scaling, but little redness, a milder variant of ns, termed peeling skin syndrome. Sep 06, 2019 ichthyosis bullosa of siemens ichthyosis follicularis ichthyosis prematurity syndrome ichthyosissclerosing cholangitis syndrome nonbullous congenital ichthyosiform erythroderma ichthyosis linearis circumflexa ichthyosis hystrix.
Ichthyosis linearis circumflexa is a distinctive skin condition of generalized hyperkeratosis and polycyclic and serpiginous erythematous plaques with a characteristic, migratory, doubleedged scale at the margins, and is the typical cutaneous manifestation of nethertons syndrome. Altman and stroud,1 recently reported on two patients with typical features of both ichthyosis linearis circumflexa and nethertons syndrome. Trichorrhexis invaginata, or bamboo hair, is a hair shaft. Jul 04, 2019 ichthyosis bullosa of siemens ichthyosis follicularis ichthyosis prematurity syndrome ichthyosissclerosing cholangitis syndrome nonbullous congenital ichthyosiform erythroderma ichthyosis linearis circumflexa ichthyosis hystrix. Evidence of hair shaft abnormalities and impaired immunity. Ichthyosis linearis circumflexa is a rare form of ichthyosis characterized by polycyclic and annular lesions which are bordered by a doubleedged scale. Ichthyosis linearis circumflexa ilc presents as serpiginous and migratory erythematous patches with doubleedged scales. In 1962 i presented a 22yearold negro woman with ichthyosis serpentina, bamboo hair, periodic loss of scalp, axillary, and pubic hair. Several other clinical features, including delayed growth, skeletal age delay, and short stature also can develop during its clinical course. Netherton syndrome is a less common form of ichthyosis. Ichthyosis linearis circumflexa, genetic disease, also called netherton syndrome.