We present a 14-year-old boy with recessive X-linked ichthyosis in whom only one testis could be found. In this apparently normal testis, a lack of activity of the enzyme steroid sulphatase was demonstrated. [ncbi.nlm.nih.gov]

Absent Eye involvement Absent Present Cryptorchidism Absent Present 35. [slideshare.net]

OBJECTIVES After completing this article, readers should be able to: Characterize the presentation of ichthyosis vulgaris. Describe the presentation of recessive x-linked ichthyosis and the syndrome with which it is associated. [pedsinreview.aappublications.org]

You'll find features like these— Each syndrome is presented in easy-to-read, two-page spreads, allowing you to read material in depth or at-a-glance Full body diagrams and clinical photographs of each syndrome Bulleted text summarizing the patterns of [books.google.com]

• Inflammation

  There were no signs of activation of inflammation or repair pathways. Five selected genes were significantly altered also on quantitative polymerase chain reaction analysis. [diva-portal.org]

  Lamellar Ichthyosis NAIL ABNORMALITIES 1. dystrophy 2. nail fold inflammation 3. subungual hyperkeratosis 4. longitudinal or transverse stippling 5. grow 2-3 times the normal rate. 57. [slideshare.net]

  People with the acquired form often have other conditions, such as: Underactive thyroid gland Kidney disease Sarcoidosis, a rare disease that causes patches of inflammation inside the body Cancer such as Hodgkin lymphoma HIV infection Some medicines might [webmd.com]

  They have little influence on the inflammation or redness of severely inflamed ichthyosis. Regular blood tests and checks on growth will be needed. [britishskinfoundation.org.uk]

  The relevant clinical feature of this disorder is scaling and thickening of cornified layer which is often accompanied by inflammation of the skin presenting itself as erythroderma [ 3 ]. [omicsonline.org]

• Weakness

  Immunofluorescence of the kidney biopsy specimen revealed positive mesangial immunostaining for C3 and a weak positive for IgM. Electron microscopy revealed glomerular sclerosis. There were many filaments in the glomerulus. [spandidos-publications.com]

  As a newborn his skin became weak and that whole biology lesson that your skin is an organ starts flashing in my head. He was losing fluids through his skin, became dehydrated and got a skin infection. [ichthyosis.com]

• Pallor

  […] of The Second Xiangya Hospital of Central South University, Changsha, Hunan, China and consent was obtained from the the patient’s family Case report Patient history A 12-year-old male presented with increasing nocturnal urine volume for five years, pallor [spandidos-publications.com]

• Fever

  Most children with this condition do not sweat normally and may overheat in hot weather, when exercising or with a fever. The palms and soles are sometimes thickened and scaly. Otherwise a child's health is normal. [britishskinfoundation.org.uk]

• Respiratory Disorders

  Tap into the fresh perspectives of new editors who provide extensive updates throughout, particularly on genetic and respiratory disorders. [books.google.com]

• Corneal Opacity

  Asymptomatic corneal opacities can occurs in up to 50% of male patients and in some female carriers. Testicular maldescent is present in about 20% of patients. Synonyme X-chromosomal rezessive Ichthyosis UMLS ICHTHYOSE, X-CHROMOSOMAL-GEBUNDENE [dermis.net]

  Abstract We investigated lipoprotein metabolism in 14 patients with recessive X-linked ichthyosis (RXLI), a metabolic disease characterized by scaly skin, corneal opacity and steroid sulfatase deficiency. [ncbi.nlm.nih.gov]

  […] fetus because of decreased placental sulfatase and estrogen and increased fetal DHEAS Skin: Brown, firmly adherent scale increased on extensors, posterior neck, trunk with relative sparing of flexures; sparing of palms, soles, face Eyes: Comma shaped corneal [cram.com]

  Corneal opacities can occur in affected males and female carriers. Undescended testicles ( cryptorchidism ) is found more commonly in men with x-linked ichthyosis than the general population. [dermnetnz.org]

  Corneal opacity could also be observed in 10-15% of affected individuals. [1] XLRI usually occurred at birth or within 3 months after birth, and affects roughly 1:2000 to 1:6000 males. [ijdvl.com]

• Hyperkeratosis

  Hyperkeratosis, Epidermolytic [Disease/Finding], epidermolytic hyperkeratosis, EPIDERMOLYTIC ICHTHYOSIS, Bullous Ichthyosiform Erythroderma, Bullous Erythroderma Ichthyosiformis Congenita of Brocq, Erythrodermas, Bullous Ichthyosiform, Ichthyosiform [fpnotebook.com]

  Skin-Pharmacol-Appl-Skin-Physiol. 2001 Aug; 14 Suppl 1: 52-62 Okano,-M Assessment of the clinical effect of topical tacalcitol on ichthyoses with retentive hyperkeratosis. [malattierare.regione.veneto.it]

  Epidermolytic Hyperkeratosis 68. Epidermolytic Hyperkeratosis 69. EHK or Bullous CIE AD keratin 1 and keratin 10 (KRT1 and KRT10) gene mutations → Clumped tonofilaments 70. [slideshare.net]

  […] estriol (serum/urine) and clehydroepiandrosterone levels Steroid sulfatase gene deletion leads to decreased steroid sulfatase activity in stratum corneum with increased cholesterol sulfate and decreased cholesterol levels; may play a role in retention hyperkeratosis [cram.com]

  STS deficiency leads to increased amounts of CSO4 that inhibit epidermal serine proteases, which in turn results in decreased desquamation of corneocytes with retention hyperkeratosis. [orpha.net]

• Dry Skin

  Part III focuses on dry skin and hyperkeratotic conditions. [books.google.com]

  […] symptoms resulting in dry scaly skin. [dovemed.com]

  It can't be cured, but treatments can relieve the scaling and make you feel more comfortable in your own skin. Ichthyosis is not one disease, but a family of about 20 skin conditions that lead to dry skin. [webmd.com]

  Identify and describe the two major autosomal recessive primary ichthyoses and their etiologies. the primary technique for dry skin care. Overview The ichthyoses are a heterogeneous group of diseases that share one presentation: scaly skin. [pedsinreview.aappublications.org]

  Stelwagon HW (1904) Diseases of the Skin. Philadelphia: WB Saunders & Co., 535-536. Loden M, Maibach HI (2000) Dry Skin and Moisturizers. Boca Raton, FL: CRC Press. [omicsonline.org]

• Blister

  Further questioning revealed that there was history of blisters occurring over the extremities since early infancy. He was diagnosed to have DEB. A skin biopsy performed at 8 months of age showed subepidermal blistering. [contempclindent.org]

  It is manifested at birth and is characterized by generalized erythema, skin blisters and skin fragility. [fpnotebook.com]

  Most collodion babies develop non-bullous ichthyosiform erythroderma, which literally means inflamed, scaly skin, without blisters. It affects 1 in every 300,000 births and so is very rare. [britishskinfoundation.org.uk]

  Histopathology showed subepidermal blisters. Direct immunofluorescence revealed linear deposits of IgG and C3 at the basement membrane zone (BMZ) of the epidermis. [ci.nii.ac.jp]

  In reality, there are differences ranging from localized to generalized scaling; spiny to flat scales; tiny to huge and plate-like scales; and blistering or redness beneath the scale. [pedsinreview.aappublications.org]

• Sweating

  Showing of 13 | 80%-99% of people have these symptoms Dry skin 0000958 Hyperkeratosis 0000962 Hypohidrosis Decreased ability to sweat Decreased sweating Sweating, decreased [ more ] 0000966 Ichthyosis 0008064 30%-79% of people have these symptoms Attention [rarediseases.info.nih.gov]

  Glean all essential, up-to-date, need-to-know information with new chapters on Papulosquamous and Lichenoid Disorders, Acneiform and Sweat-gland disorders and two individual chapters on Vascular Malformations and Vascular Tumors. [books.google.com]

  There may be a reduction in sweating in childhood, which improves later in life. This is a troublesome and distressing condition for the child and the family. [britishskinfoundation.org.uk]

  XLI patients have low sweat production due to a decrease numbers of sweat gland[ 55 ]. Filaggrin mutations may be associated with ichthyosis vulgar, xerosis and atopic dermatitis exacerbating the XLI phenotype[ 56, 57 ]. [wjgnet.com]

  Scaling can lead to complications such as: Infections Dehydration Blocked sweat glands, which can lead to overheating Slow hair growth from scales on the scalp Burning more calories, because the skin has to work harder to turn over cells Ichthyosis can [webmd.com]

• Dermatitis

  […] tab >> 2013 (English) Doctoral thesis, comprehensive summary (Other academic) Abstract [en] Atopic dermatitis (AD), ichthyosis vulgaris (IV), and X-linked recessive ichthyosis (XLRI) are characterized by dry skin and impaired skin barrier. [diva-portal.org]

  FLG gene mutations are now well established as the highest genetic risk for atopic dermatitis. [clinicalgate.com]

  They include: Acrodermatitis enteropathica Thyroid disorder causing eye symptoms Atopic dermatitis Viral infections, such as caused by herpes zoster virus, and HIV Kaposi sarcoma in patients with AIDS Retinitis pigmentosa Acute leukemia Psoriasis Sarcoidosis [dovemed.com]

  Materials and Methods Study Participants The 21 individuals studied include 8 patients with IV (2 compound heterozygous and 6 heterozygous FLG mutations), one patient with atopic dermatitis (AD, heterozygous for FLG ), 2 patients with LI ( TGM1 mutations [journals.plos.org]

  Ichthyosis can itch relentlessly, leading to such complications of scratching as lichen simplex ( dermatitis characterized by raw patches of skin). [encyclopedia.com]

• Irritability

  Physico-chemical considerations, emulsifiers, hydrophilic pastes, lanolins, and other topics are addressed in Part IV, Formulations and Interactions with the Skin; while safety assessments, human in vivo skin irritancy testing, sensitive skin, and more [books.google.com]

  Peeling creams (keratolytics, e.g. salicylic acid) are sometimes used but they can irritate the skin and can be helpful on the palms and soles. CAUTION : This leaflet mentions ‘emollients’ (moisturisers). [britishskinfoundation.org.uk]

  However, irritation is common, and high plasma urea levels have been reported. The retinoids and calcipotriene have been used as topical therapy for ichthyosis in a small number of trials and have proved to be beneficial [ 13 ]. [omicsonline.org]

  Irritation to tags and seams, sometimes a tight waist band-even people with sensitive skin get this. I like cotton fabrics best, they work best with lotion. More than likely your son will not have any signs of x linked ichthyosis at birth. [ichthyosis.com]

  Good skin care with regular emollients and the avoidance of irritants such as detergents is advisable, as these infants tend to have lifelong dry skin and a high incidence of atopic dermatitis. 10 Recessive X-linked ichthyosis Cutaneous features Recessive [clinicalgate.com]

Treatment with moisturizers improved skin dryness similarly in all groups, but TEWL behaved differently: it decreased slightly in the AD/IV group and increased in the XLRI group, especially after urea treatment. [diva-portal.org]

Treatment for both of these conditions mainly consists of skin moisturizers and possibly topical retinoids. [amboss.com]

Better treatments are urgently needed. How could this research help? “We would like to find a better treatment for X-linked ichthyosis,” says Professor O’Toole. [action.org.uk]

What are the treatments for ichthyosis? In the milder types of ichthyosis the main treatment is regular application of moisturisers or emollients. [britishskinfoundation.org.uk]

Treatments It can't be cured, but treatments can help you manage dry and scaly skin. Continued Rub cream, lotion, or ointment onto your skin every day to add moisture. [webmd.com]

: good prognosis; lesions usually disappear during adolescence References: [1] [2] [3] X-linked ichthyosis Epidemiology : 1 in about every 6000 male births Etiology : X-linked recessive trait (transmitted only to males) → inherited deficiency of the [amboss.com]

(Outcomes/Resolutions) The prognosis of X-Linked Recessive Ichthyosis depends on the severity of the signs and symptoms Severe congenital cases have poor prognosis, while mild, acquired cases have a much better prognosis Additional and Relevant Useful [dovemed.com]

[…] body diagrams and clinical photographs of each syndrome Bulleted text summarizing the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosis [books.google.com]

Prognosis RXLI represents a benign form of ichthyosis. The ichthyosis is life-long but hyperkeratosis and scaling may improve with age. Life expectancy is normal. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis This condition requires continuous care throughout a lifetime. Properly treated, in most cases it is a cosmetic problem. There are a small number of lethal forms, such as harlequin fetus. [encyclopedia.com]

Ichthyosis vulgaris Epidemiology : most common type of hereditary ichthyosis Etiology : autosomal dominant inheritance ; associated with atopic diseases Clinical presentation Onset usually between 3 and 12 months of age Lesions Generalized fine, white [amboss.com]

Describe the presentation and etiology of epidermolytic hyperkeratosis. Identify and describe the two major autosomal recessive primary ichthyoses and their etiologies. the primary technique for dry skin care. [pedsinreview.aappublications.org]

Etiology and pathogenesis X-linked ichthyosis results from mutations of the STS gene encoding steroid sulfatase (arylsulfatase C), particularly deletions (90% of patients). [clinicalgate.com]

Etiology X-linked ichthyosis is an epidermal lipid metabolism anomaly due to inactivating mutations or deletions in the steroid sulfatase STS gene (Xp22.3). [orpha.net]

Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol. 2003;4: 81-95. Zettersen, E, Man, MQ, Sato, J, et al. Recessive x-linked ichthyosis: role of cholesterol sulfate accumulation in the barrier abnormality. [rarediseases.org]

Ichthyosis vulgaris Epidemiology : most common type of hereditary ichthyosis Etiology : autosomal dominant inheritance ; associated with atopic diseases Clinical presentation Onset usually between 3 and 12 months of age Lesions Generalized fine, white [amboss.com]

Historical, clinical, epidemiological, and molecular aspects are described through the text. Recessive XLI is a relatively common genodermatosis affecting different ethnic groups. [wjgnet.com]

Summary Epidemiology RXLI affects almost exclusively males. It is the second most common type of ichthyosis with an estimated prevalence of 1 / 2,000 to 1 / 6,000 males. [orpha.net]

Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children. [link.springer.com]

The regular formation of oxidation products of cholesterol observed here, if matched by equivalent molecular events in vivo, may have important implications for epidermal pathophysiology. [ncbi.nlm.nih.gov]

Although the Registry is closed to new enrollment, it is still maintained in order to provide information related to understanding the diagnosis, pathophysiology, and treatment of ichthyoses. [clinicaltrials.gov]

The dental treatment was initiated with a preventive approach, required extractions were carried out to get prevent malocclusion and enhance proper growth and development of the maxilla and the mandible. [omicsonline.org]

Presumably, as a result of this distribution pattern, continued enzymatic degradation of substrate occurs in normal epidermis, thereby preventing excessive accumulation of cholesterol sulfate. [ncbi.nlm.nih.gov]

This can help prevent complications such as skin infections (that may occur frequently otherwise) The prognosis of X-Linked Recessive Ichthyosis depends on the severity of the signs and symptoms. [dovemed.com]

Your childbirth will need to be closely monitored to prevent unnecessary damage to your child. X-linked Ichthyosis leaflet [ichthyosis.org.uk]

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 11 May 2012 recommending the granting of this designation. the seriousness of the condition; the existence of alternative methods of diagnosis, prevention [ema.europa.eu]