Mild forms of IBS should be diagnosable from appearance and patient history alone. Severe cases of IBS are hard to distinguish from mild EHK.

A skin biopsy shows a characteristic damaged layer in the upper spinous level of the skin. Again it may be difficult to distinguish from EHK.

The gene causing IBS is known and so a definite diagnosis can be given by genetic testing.

A physician often can diagnose ichthyosis by looking at the skin. A family history is very useful. In some cases, a skin biopsy is done to help to confirm the diagnosis. In some instances, genetic testing may be helpful in making a diagnosis. Diabetes has not been definitively linked to acquired ichthyosis or ichthyosis vulgaris; however, there are case reports associating new onset ichthyosis with diabetes.

Ichthyosis has been found to be more common in Native American, Asian, Mongolian groups. There is no way to prevent ichthyosis.

Ichthyosis is a genetically and phenotypically heterogeneous disease that can be isolated and restricted to the skin manifestations or associated with extracutaneous symptoms. One of which is limb reduction defect known as CHILD syndrome; a rare inborn error of metabolism of cholesterol biosynthesis that is usually restricted to one side of the body. A research done in Egypt proved that it is not a child syndrome and discussed all the case report.

The diagnosis of harlequin-type ichthyosis relies on both physical examination and certain laboratory tests.

Physical assessment at birth is vital for the initial diagnosis of harlequin ichthyosis. Physical examination reveals characteristic symptoms of the condition especially the abnormalities in the skin surface of newborns. Abnormal findings in physical assessments usually result in employing other diagnostic tests to ascertain the diagnosis.

Genetic testing is the most specific diagnostic test for harlequin ichthyosis. This test reveals a loss of function mutation on the ABCA12 gene. This gene is important in the regulation of protein synthesis for the development of the skin layer. Mutations in the gene may cause impaired transport of lipids in the skin layer and may also lead to shrunken versions of the proteins responsible for skin development. Less severe mutations result in a collodion membrane and congenital ichthyosiform erythroderma-like presentation. ABCA12 is an ATP binding cassette (ABC) transporter, and is a member of a large family of proteins that hydrolyze ATP to transport cargo across membranes. ABCA12 is thought to be a lipid transporter in keratinocytes necessary for lipid transport into lamellar granules during the formation of the lipid barrier.

Biopsy of skin may be done to assess the histologic characteristics of the cells. Histological findings usually reveal hyperkeratotic skin cells, which leads to a thick, white and hard skin layer.

Overheating: The scaling of the skin prevents normal sweating so hot weather and/or vigorous exercise can cause problems.

Eye problems: The eyelids can be pulled down by the tightness of the skin and this can make eyelids (but usually just the lower one) very red and they are prone to drying and irritation.

Constriction bands: Very rarely children with this condition can have tight bands of skin around their fingers or toes (usually at the tips) that can prevent proper blood circulation to the area.

Hair loss: Severe scaling of the skin on the scalp can lead to patchy loss of hair, but this is rarely permanent.

There is no cure for IBS but in the future gene therapy may offer a cure.

Treatments for IBS generally attempt to improve the appearance of the skin and the comfort of the sufferer. This is done by exfoliating and increasing the moisture of the skin. Common treatments include:

- Emollients: moisturisers, petroleum jelly or other emolients are used, often several times a day, to increase the moisture of the skin.

- Baths: long baths (possibly including salt) several times a week are used to soften the skin and allow exfoliation.

- Exfoliating creams: creams containing keratolytics such as urea, salicylic acid and lactic acid may be useful.

- Antiseptic washes: antiseptics may be used to kill bacteria in the skin and prevent odour.

- Retenoids: very severe cases may use oral retinoids to control symptoms but these have many serious side effects including, in the case of IBS, increased blistering.

Even though there is no way to cure the disease itself, there are ways to dampen the symptoms. These include medical help in form of pills, and using heavy lotions and oils.

To maintain the good health of the skin after the symptoms have dampened the person with the disease are advised to go on normally with their lives but to take precautions while showering. This is to take shorter, colder baths than usual to not stress the skin. It is also known to help to use bar-soap, instead of a liquid body wash.

The condition can be diagnosed via exam that reveals; generalized redness; thick, generally dark, scales that tend to form parallel rows of spines or ridges,especially near large joints; the skin is fragile and blisters easily following trauma; extent of blistering and amount of scale is variable

As with all types of ichthyosis, there is no cure but the symptoms can be relieved.

- Moisturizers

- Prevention of overheating

- Eye drops (to prevent the eyes from becoming dried out)

- Systemic Retinoids (isotretinoin and acitretin are very effective, but careful monitoring for toxicity is required. Only severe cases may require intermittent therapy.)

Psychological therapy or support may be required as well.

The challenge has always been how to deliver the siRNA using a topical method or retroviral vectors and ex vivo gene transfer. In 2011/12 a team at Northwestern University claim to have solved the topical delivery of siRNA dilemma. Personalized siRNA can be delivered in a commercial moisturizer or phosphate-buffered saline, and do not require barrier disruption or transfection agents, such as liposomes, peptides, or viruses. "Topical application of nucleic acids offers many potential therapeutic advantages for suppressing genes in the skin, and potentially for systemic gene delivery. However, the epidermal barrier typically precludes entry of gene-suppressing therapy unless the barrier is disrupted. We now show that spherical nucleic acid nanoparticle conjugates (SNA-NCs), gold cores surrounded by a dense shell of highly oriented, covalently immobilized siRNA, freely penetrate almost 100% of keratinocytes in vitro, mouse skin, and human epidermis within hours after application."

This new discovery may soon offer hope to all suffering from mono-genetic diseases such as EHK. This may lead to promising personalized, topically delivered gene therapy of cutaneous tumors, skin inflammation, and dominant negative genetic skin disorders.

UPDATE: OCTOBER 2014

As of late, Paller reports "we are using a new nanotechnology-based technique called 'spherical nucleic acids' (SNAs) to suppress the production of the abnormal keratin 10 gene that is the most common change leading to epidermolytic ichthyosis. We continue to screen candidate SNAs to find a few that clearly suppress the abnormal keratin 10 gene much more than the normal keratin 10 gene. In the meantime, we have developed several tools towards this effort, which can also be used by other researchers. Most recently we've developed a special 'lentivirus reporter construct' in which we can see through changes in fluorescence whether or not our SNA works."

Dr. Paller and her team recently received more good news with regard to progressing their research. "We just received a grant from the National Institutes of Health (NIH) to continue this effort based on our preliminary data collected with FIRST's funding support. FIRST has been instrumental in furthering our research efforts related to ichthyosis," she said.

Because it is a rare disease, diagnosis is often complicated and takes a long time. Early in the disease patients may have erosions in the mouth or blisters on the skin. These blisters can be itchy or painful. Theoretically, the blisters should demonstrate a positive Nikolsky's sign, in which the skin sloughs off from slight rubbing, but this is not always reliable. The gold standard for diagnosis is a punch biopsy from the area around the lesion that is examined by direct immunofluorescent staining, in which cells are acantholytic, that is, lacking the normal intercellular connections that hold them together. These can also be seen on a Tzanck smear. These cells are basically rounded, nucleated keratinocytes formed due to antibody mediated damage to cell adhesion protein desmoglein.

Pemphigus vulgaris is easily confused with impetigo and candidiasis. IgG4 is considered pathogenic. The diagnosis can be confirmed by testing for the infections that cause these other conditions, and by a lack of response to antibiotic treatment.

Diagnosis can be made at birth by identifying the symptoms of the child. Ultrastructural diagnosis where tissues are analyzed is using electron microscopy is also conducted. A specimen of skin is obtained via a skin biopsy and analyzed to see any tell tale characteristics.Genetic testing can also be done to identify the mutation on the FATP4 gene associated with fatty acid synthesis. Genetic consultation through a genetic counsellor is done to determine whether the individual has this syndrome and reduces the chances of misdiagnoses with other cutaneous diseases.

Constant care is required to moisturise and protect the skin. The hard outer layer eventually peels off, leaving the vulnerable inner layers of the dermis exposed. Early complications result from infection due to fissuring of the hyperkeratotic plates and respiratory distress due to physical restriction of chest wall expansion.

Management includes supportive care and treatment of hyperkeratosis and skin barrier dysfunction. A humidified incubator is generally used. Intubation is often required until nares are patent. Nutritional support with tube feeds is essential until eclabium resolves and infants can begin nursing. Ophthalmology consultation is useful for the early management of ectropion, which is initially pronounced and resolves as scale is shed. Liberal application of petrolatum is needed multiple times a day. In addition, careful debridement of constrictive bands of hyperkeratosis should be performed to avoid digital ischemia. Cases of digital autoamputation or necrosis have been reported due to cutaneous constriction bands. Relaxation incisions have been used to prevent this morbid complication.

In the past, the disorder was nearly always fatal, whether due to dehydration, infection (sepsis), restricted breathing due to the plating, or other related causes. The most common cause of death was systemic infection and sufferers rarely survived for more than a few days. However, improved neonatal intensive care and early treatment with oral retinoids, such as the drug Isotretinoin (Isotrex), may improve survival. Early oral retinoid therapy has been shown to soften scales and encourage desquamation. After as little as two weeks of daily oral isotretinoin, fissures in the skin can heal, and plate-like scales can nearly resolve. Improvement in the eclabium and ectropion can also be seen in a matter of weeks. Children who survive the neonatal period usually evolve to a less severe phenotype, resembling a severe congenital ichthyosiform erythroderma. Patients continue to suffer from temperature dysregulation and may have heat and cold intolerance. Patients can also have generalized poor hair growth, scarring alopecia, contractures of digits, arthralgias, failure to thrive, hypothyroidism, and short stature. Some patients develop a rheumatoid factor-positive polyarthritis. Survivors can also develop fish-like scales and retention of a waxy, yellowish material in seborrheic areas, with ear adhered to the scalp.

The oldest known survivor is Nusrit "Nelly" Shaheen, who was born in 1984 and is in relatively good health as of April 2016. Lifespan limitations have not yet been determined with the new treatments.

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. With improved neonatal care and probably the early introduction of oral retinoids, the number of survivors is increasing."

Treatments for ichthyosis often take the form of topical application of creams and emollient oils, in an attempt to hydrate the skin. Creams containing lactic acid have been shown to work exceptionally well in some cases. Application of propylene glycol is another treatment method. Retinoids are used for some conditions.

Exposure to sunlight may improve or worsen the condition. In some cases, excess dead skin sloughs off much better from wet tanned skin after bathing or a swim, although the dry skin might be preferable to the damaging effects of sun exposure.

There can be ocular manifestations of ichthyosis, such as corneal and ocular surface diseases. Vascularizing keratitis, which is more commonly found in congenital keratitis-ichythosis-deafness (KID), may worsen with isotretinoin therapy.

Ichthyosis vulgaris is one of the most common genetic disorders caused by a single gene. The disorder is believed to be caused by mutations to the gene encoding profilaggrin (a protein which is converted to filaggrin which plays a vital role in the structure of the skin). Around 10% of the population have some detrimental mutations to the profilaggrin gene that is also linked to atopic dermatitis (another skin disorder that is often present with ichthyosis vulgaris). The exact mutation is only known for some cases of ichthyosis vulgaris.

It is generally considered to be an autosomal dominant condition, i.e., a single genetic mutation causes the disease and an affected person has a 50% chance of passing the condition on to their child. There is some research indicating it may be semi-dominant. This means that a single mutation would cause a mild case of ichthyosis vulgaris and mutations to both copies of the gene would produce a more severe case.

Diagnosis is based on two biopsies of the skin, one submitted for routine H&E staining and one for immunofluorescence studies.

XLI can be suspected based on clinical findings, although symptoms can take varying amounts of time to become evident, from a few hours after birth, up to a year in milder cases. The diagnosis is usually made by a dermatologist, who also typically formulates the treatment plan (see below). STS enzyme deficiency is confirmed using a clinically available biochemical assay. Carrier detection can be performed in mothers of affected sons using this test (see Genetics, below). Molecular testing for DNA deletions or mutations is also offered, and can be particularly useful in the evaluation of individuals with associated medical conditions (see below). Prenatal diagnosis is possible using either biochemical or molecular tests. However, the use of prenatal diagnosis for genetic conditions that are considered to be generally benign raises serious ethical considerations and requires detailed genetic counseling.

Many other conditions can lead to localized scaling or hyperpigmentation.

This condition should firmly be distinguished from dermatitis artefacta, which is the "factitious" creation of a skin lesion, whereas dermatosis neglecta results from unconscious avoidance of cleaning due to pain or immobility.

Other skin conditions which should not be mistaken for dermatosis neglecta include: terra firma-forme dermatosis (in which there is no history of inadequate cleaning); confluent and reticulated papillomatosis of Gougerot and Carteaud; several forms of ichthyosis; acanthosis nigricans; and Vagabond's disease.

Research into using genetically modified T-cells to treat pemphigus vulgaris in mice was reported in 2016. Rituximab indiscriminately attacks all B cells, which reduces the body's ability to control infections. In the experimental treatment, human T cells are genetically engineered to recognize only those B cells that produce antibodies to desmoglein 3.

Dermatosis neglecta is a skin condition in which accumulation of sebum, keratin, sweat, dirt and debris leads to a localized patch of skin discoloration or a wart-like plaque. It is caused by inadequate hygiene of a certain body part, usually due to some form of disability or a condition that is associated with pain or increased sensitivity to touch (hyperesthesia) or immobility.

Dermatosis neglecta typically develops several months after a disability or other affliction leads to improper cleaning. Patients may deny that negligence is the cause of the lesion, even though it completely resolves on vigorous rubbing with alcohol swabs or water and soap (which provides both diagnosis and treatment). Recognizing the diagnosis avoids unnecessary skin biopsies.

Examples of case reports from the literature include a man who avoided washing the skin area surrounding an artificial pacemaker out of fear it might be damaged; a woman who didn't clean the right side of her chest due to hyperesthesia following an amputation for breast cancer (mastectomy); a girl who was afraid to wash the area around an abdominal scar; and a man with multiple fractures, shoulder dislocation and radial nerve palsy which significantly reduced his mobility.

An extremely rare disease of which only a few isolated cases are known.

Many canine skin disorders can have a basis in poor nutrition. The supplementation of both omega fatty acids, 3 and 6, have been shown to mediate the inflammatory skin response seen in chronic diseases. Omega 3 fatty acids are increasingly being used to treat pruritic, irritated skin. A group of dogs supplemented with omega 3 fatty acids (660 mg/kg [300 mg/lb] of body weight/d) not only improved the condition of their pruritus, but showed an overall improvement in skin condition. Furthermore, diets lacking in essential fatty acids usually present as matted and unkept as the first sign of a deficiency. Eicosapentaenoic acid (EPA), a well known omega 3, works by preventing the synthesis of another omega metabolite known as arachidonic acid. Arachidonic acid is an omega 6, making it pro-inflammatory. Though not always the case, omega 6 fatty acids promote inflammation of the skin which in turn reduces overall appearance and health. There are skin benefits of both these lipids, as a deficiency in omega 6s leads to a reduced ability to heal and a higher risk of infection, which also diminishes skin health. Lipids in general benefit skin health of dogs, as they nourish the epidermis and retain moisture to prevent dry, flaky skin.

Since the common pathogens involved with impetigo are bacteria naturally found on the skin, most prevention (especially in children), is targeted towards appropriate hygiene, wound cleaning, and minimizing scratching (i.e. by keeping nails trimmed and short). Avoiding close contact and sharing of items such as towels with potentially infected individuals is also recommended.

Ichthyosis linearis circumflexa is a distinctive skin condition of generalized hyperkeratosis and polycyclic and serpiginous erythematous plaques with a characteristic, migratory, double-edged scale at the margins, and is the typical cutaneous manifestation of Netherton's syndrome.

There are no life-threatening complications after the perinatal period (around the time of birth) and the skin conditions persist but to a lesser degree of severity. Individuals have a favourable prognosis as symptoms can be managed and past the infancy stage are not life-threatening. The red skin edema improves after a three-week period but the ichthyosis scaling persists. Asthma has been recorded in some cases later on in the individual's life and sign of atopic dermatitis persist, follicular hyperkeratosis and small amounts of scaling at the scalp that goes on into adulthood but otherwise the individual continues a healthy life.

Histology of normal epidermal tissue through H&E. Composed of four layers, Stratum basale, Stratum spinosum, Stratum granulosum, and Stratum corneum. Normal pathology of the skin, displaying the dermis which is attached to underlying loose connective tissue which subsequently contains primary adipose tissue.

Histology of Bullous Impetigo through H&E. The cleavage plane can be found either subcorneal or within the upper stratum granulosum. The roof of the pustule is parakeratotic stratum cirneum, and the floor is formed of keratinocytes, which may or may not be acantholytic. Neutrophils begin to fill the pustule. Toxins are produced by S. "aureus" and target desmoglein, which is a desmosomal cell-cell adhesion molecule that is found in the upper levels of the epidermis. Stratum Lucidum is no longer present and can be seen infiltrated with inflammatory cells. This correlates with the subcorneal localization of the bullae.