A japanese infant with localized ichthyosis linearis. Ichthyosis differential diagnoses medscape reference. Trichorrhexis invaginata netherton syndrome or bamboo. Significant improvement was observed after amild flareup which ocurred at the 20th session fig. The study of ichthyosis linearis circumflexa has been mentioned in research publications which can be found using our bioinformatics tool below. Netherton syndrome consists of ichthyosis linearis circumflexa, atopic dermatitis with lichenification and scaling, anaphylactic reactions to food, and trichorrhexis invaginata bamboo hair. Some conditions that are not considered rare are on this list and are labeled. A japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound heterozygous mutation in the spink5 gene y. Ichthyosis linearis circumscripta definition of ichthyosis. At the age of five, eczematoid skin lesions appeared in the flexural areas, and an atopic dermatitis was additionally diagnosed. In the dominant form, the first skin involvement is usually noted after the first 3 months of life and less of the body surface is affected. 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 circumfiexa ilc is a rarely seen autosomal recessive keratinization disorder and is.
Ichthyosis linearis circumflexa is a distinctive skin condition of generalized hyperkeratosis and polycyclic and serpiginous erythematous plaques with a. Ichthyosis linearis circumflexa definition of ichthyosis. Ichthyosis serpentina, a mild form of ichthyosis vulgaris, therefore, seems to be another variantnot necessarily. Ichthyosis linearis circumflexa comel with trichorrhexis. Evidence of hair shaft abnormalities and impaired immunity could not be found. Ichthyosis linearis circumflexa is a rare, autosomal recessive disorder of keratinization characterized by annular and polycyclic lesions with doubleedged cirrcumflexa. The various forms are distinguished from one another by. This membrane is usually shed during the first few weeks of life. 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.
An 8yearold child with delayed diagnosis of netherton. Ichthyosis linearis circumflexa or migratory annular and polycyclic erythema with doubleedge scale. Onset is delayed until at least three months of age. Ichthyosis comes from the greek ichthys, literally fish, since dry, scaly skin is the defining. Netherton syndrome is a rare autosomal recessive disease characterized by erythroderma, ichthyosis linearis circumflexa, atopy, failure to thrive and a specific hair shaft abnormality called. Ichthyosis is usually worse in the winter and is more severe over the legs. Ichthyosis affects people of all ages, races and gender. Ichthyosis linearis circumflexa ilc is a rare dermatolo gical disorder of keratinisation which may be inherited as an autosomal recessive trait 1. The clinical features of netherton syndrome netherton syndrome is an uncommon autosomal recessive disease characterized by ichthyosis linearis circumflexa andor congenital ichthyosiform erythroderma, hair shaft.
Browse the gard list of rare diseases and related terms to find topics of interest to you. Ns is caused by spink5 mutations, which lead to absent or sometimes reduced expression of the serine protease inhibitor lekti. He was treated by a local untrained practitioner for more than 3 years without any significant improvement, and he developed weight gain, thinning of skin, muscle weakness and growth retardation. Netherton syndrome is a genodermatosis in which ichthyosis linearis circumflexa is accompanied by characteristic hair shaft abnormalities and atopic diathesis. The inherited congenital ichthyoses are a heterogeneous group of disorders marked by the common finding of scaly skin. Ichthyosis linearis circumflexa, atopic dermatitis. Trichorrhexis invaginata netherton syndrome or bamboo hair.
Many different metaphors such as alligator, collodion, crocodile, fish, and porcupine skin have been used to describe the various types and stages. A 21yearold man with netherton syndrome underwent investigation of a persistently elevated serum alanine transaminase, detected on routine monitoring. Wells and kerr 1965 suggested that autosomal dominant ichthyosis vulgaris is distinguishable clinically from the xlinked variety. Netherton syndrome ns, mim256500 is an autosomal recessive disorder that includes ichthyosis linearis circumflexa and a predisposition to allergies, asthma, and eczema, with hypereosinophilia.
Ichthyosis linearis circumflexa ilc presents as serpiginous and migratory erythematous patches with doubleedged scales. Netherton syndrome is an autosomal recessive ichthyosis caused by mutations in spink5, with the classic triad of linearis circumflexa, trichorrhexis invaginata, and atopy. It is characterised by migratory, annular and polycyclic erythematous patches with doubleedged scales at the periphery of the lesions. Universal erythroderma and pruritus are characteristic. Two patients with typical features of both ichthyosis linearis circumflexa and nethertons syndrome are reported. The scales form on only some parts of the body, such. The diffuse brown scale gives the child a dirty appearance. Ichthyosis linearis circumflexa genetic and rare diseases. Bilgili sg, karadag as, calka o, onder s, bayram i. Ichthyosis linearis circumflexa malakar s, lahiri k, sengupta. Clinically they are characterized by a wide range of severity, from isolated skin involvement to multiorgan disease.
Ichthyosis linearis circumflexa as the only clinical. Each year, more than 16,000 babies are born with some form of ichthyosis. View enhanced pdf access article on wiley online library html view download pdf for offline viewing. Ichthyosis is a general term for a family of rare genetic skin diseases characterized by dry, thickened, scaling skin. To remove scale eg, if ichthyosis is severe, patients can apply a preparation containing 40 to 60% propylene glycol in water under occlusion eg, a thin plastic film or bag worn overnight every night after hydrating the skin eg, by bathing or showering. A trial of nb uvb three times a week was initiated at 0,50 jcm 2 after obtaining consent from his parents.
A case of ichthyosis linearis circumflexa successfully. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. His parents noticed polycyclic skin lesions and hair fragility around the age of 5 years. In 1949, comel1 described ilc as being characterized by generalized erythematous patches accompanied by a migratory, desquamative ring with a doubleedge configuration. The condition is occasionally referred to as comelnetherton syndrome. Histopathology of skin revealed psoriasiform changes. Piyush kumar, rc gharami, avijit mondal and kalyan ghosh, department of dermatology, medical college, kolkata, india. Ichthyosis hystrix is a group of rare skin disorders in the ichthyosis family of skin disorders characterized by massive hyperkeratosis with an appearance like spiny scales. Clinicopathologic correlation led to a diagnosis of ilc, trichorrhexis invaginatapili torti, and atopic diathesis, which is a constellation of disorders related to ns. In 1962 i presented a 22yearold negro woman with ichthyosis serpentina, bamboo hair, periodic loss of scalp, axillary, and pubic hair, atopic eczema, pulmonary tuberculosis, and asthma. Ichthyosis, netherton syndrome nord national organization. Hair shaft videodermoscopy in netherton syndrome request pdf.
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. Netherton syndrome is a genodermatosis in which ichthyosis linearis circumflexa is accompanied by. Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. Newborns with netherton syndrome have skin that is red and scaly ichthyosiform erythroderma, and the skin may leak fluid. Netherton syndrome with ichthyosis linearis circumflexa and. An inherited skin disorder present at birth or appearing in infancy, characterized by redness and scaling that moves from place to place about the body and shows a peripheral doubleedged scale. Browse az genetic and rare diseases information center. Clinically the child was diagnosed as ichthyosis linearis circumflexa ilc. Apr 16, 2019 ichthyosis results from an abnormality in the cornification production of the outer dead layer of the skin. The majority of lesions cleared after 30 sessions with a. Ichthyosis is a family of genetic skin disorders characterized by dry, scaling skin that may be thickened or very thin.
Clearance of ichthyosis linearis circumflexa with balneophototherapy clearance of ichthyosis linearis circumflexa with balneophototherapy gambichler, thilo. This term is also used to refer to a type of epidermal nevi with extensive bilateral distribution. Ichthyosis can affect only the skin, but sometimes the disease can affect internal organs, too. Ichthyosis linearis circumflexa and nethertons syndrome. Mizuno departments of dermatology and paediatrics, juntendo university school of medicine, 2. Ichthyosis typically responds well to the topical keratolytic propylene glycol. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance e. Edward lambert, an englishman who suffered from ichthyosis hystrix. It leads to dry, itchy skin that appears scaly, rough, and red. Ichthyosis linearis circumflexa ilc is a rare congenital dermatosis, which may be inherited as an autosomal recessive trait. Ichthyosis linearis circumflexa ilc is a rare dermatological disorder of keratinisation which may be inherited as an autosomal recessive trait.
Netherton syndrome ns is a rare autosomalrecessive disorder characterized by a clinical triad of ichthyosis linearis circumflexa. More pronounced fishscale pattern on the legs of a child with xlinked ichthyosis. Pdf ichthyosis linearis circumflexa as the only clinical. Chronic diarrhea in an adolescent girl with a genetic skin. The term psoriasiform ichthyosis is proposed to include ichthyosis linearis circumflexanethertons syndrome, and perhaps other variants of ichthyosis with psoriasiform features which do not appear to fit into the existing classification of ichthyosiform dermatoses. Nethertons syndrome and ichthyosis linearis circumflexa.
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. A 15yearold boy had persistent and refractory erythroderma since early childhood. The skin may at times be itchy, sensitive or raw and appear thickened at the joints. Over time, the erythroderma evolves into ichthyosis linearis circumflexa characterized by migratory, serpiginous, erythematous, patchesplaques with doubleedged scales at the periphery.
Acquired ichthyosis is a nonhereditary skin condition characterised by dry and rough skin with scaling. 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 older children and adults the scaling may have a distinctive circular pattern ichthyosis linearis circumflexa. In the inherited forms, symptoms appear at birth or in the first few months of life. Nonalcoholic steatohepatitis associated with netherton. Ichthyosis presents at birth with erythroderma and subsequently evolves into ichthyosis linearis circumflexa. Aug 28, 2018 ichthyosis refers to a relatively uncommon group of skin disorders characterized by the presence of excessive amounts of dry surface scales. Ichthyosis linearis circumflexa malakar s, lahiri k, sengupta sr ijdvl. It is often described as fish scale skin and usually appears for the first time in early adult life. Ilc is rarely an isolated skin manifestation, but most commonly a part of netherton syndrome ns. Research of ichthyosis linearis circumflexa has been linked to ichthyoses, exfoliative dermatitis, ichthyosiform erythroderma, congenital, dermatologic disorders, dermatitis, atopic. Links to pubmed are also available for selected references. 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.
The condition was first described in the lambert family in england in. It manifests as collodion baby at birth and refractory erythroderma during infancy and early childhood days. Xlinked ichthyosis an overview sciencedirect topics. Ichthyosis linearis circumflexa, journal of cutaneous.
It is regarded as a disorder of keratinization or cornification, and it is due to abnormal epidermal differentiation or metabolism. 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. Ichthyosis, xlinked steroid sulfatase deficiency keratitis ichthyosis deafness syndrome kid syndrome keratosis linearis with ichthyosis congenita and sclerosing keratoderma. In 1949, comel 1 described ilc as being characterized by generalized erythematous patches accompanied by a migratory, desquamative ring with a doubleedge configuration. He drank no alcohol, was not diabetic or overweight body mass index 23 kgm2 and had no clinical features of liver dysfunction.
Full text full text is available as a scanned copy of the original print version. Examination of abnormal hair under microscope shows trichorrhexis invaginata defects of the hair shafts. The prefix ichthy is taken from the greek root for the word fish. We prescribed oral acitretin 25 mg once daily and instructed the patient to apply petroleum jelly. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. New ichthyosis diagnosis foundation for ichthyosis. Ichthyosis linearis circumflexa ichthyosis linearis circumflexa nabai, h mehregan, amir h. This list includes the main name for each condition, as well as alternate names. An ultrasound guided liver biopsy showed histological. Ichthyosis linearis circumflexa malakar s, lahiri k.
It is characterized by a marked decrease of the desmosometonofilament system, lack of membrane coating granules and keratohyalin, and the appearence of. Anandamath novel pdf ichthyosis linearis circumflexa in a child. Netherton syndrome is a rare, autosomal recessive disorder that is characterized by congenital ichthyosis, trichorrhexis invaginata, and atopic diathesis. 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 linearis circumflexa waxes and wanes throughout the patients life. Netherton syndromeichthyosis linearis circumflexabamboo hair. Typical annular, erythematous patches in the 29monthold boy a and his 1yearold sister b. Ichthyosis nord national organization for rare disorders. Netherton syndrome is a less common form of ichthyosis.
Inclusion on this list does not serve as official recognition by the nih that a disease is rare. Ichthyosis linearis circumflexa is a rare form of ichthyosis characterized by polycyclic and annular lesions which are bordered by a doubleedged scale. At that time total lge levels were elevated and allergy to house mite, grass pollen, and tree pollen was found. A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with ichthyosis linearis circumflexa. Netherton syndrome is a disorder that affects the skin, hair, and immune system.
Clinical and histological features of netherton syndrome. Patients with nethertons syndrome have fragile, spiky hair which seems to grow very slowly. Ichthyosis linearis circumflexa stock image c0064029. A case of ichthyosis linearis circumflexa in a 9year old boy is reported here for its rarity. Netherton syndromeichthyosis linearis circumflexabamboo.