Patient presents with progressive perioral and perineal keratoderma associated with bilateral corneal epithelial dysplasia leading to severe corneal scarring and impairment of vision. [accessanesthesiology.mhmedical.com]

[…] make winter xerosis and “winter itch” common complaints –Mild xerosis can cause impaired skin barrier function and allow irritants and allergens to more easily affect the skin –Most common on the legs, but often affecting the entire skin surface –Can present [checkorphan.org]

[…] keratoderma which resulted in painful walking and disabled grasping Perianal keratotic plaques and perioral hyperkeratotic erythema could also be observed Both fingernails and toenails were dystrophic Scalp hairs were sparse, but total alopecia was no present [typeset.io]

In the present research, we recruited an atypical familial case of OS in which patients did not present with periorificial keratoderma and alopecia. [nature.com]

• Anemia

  […] such as the large family of ichthyoses (including X-linked ichthyoses, Netherton's disease), lead to severely dry skin in association with other systemic manifestations * Hypothyroidism and hyperthyroidism can also cause marked xerosis and/or itch * Anemia [checkorphan.org]

• Fishing

  […] occur because of the persistent itch * Ichthyoses vulgaris –Very common cause of dry skin –A genetic defect in skin barrier function, leading to a higher risk of atopic dermatitis –Patients often have hyperlinearity of their palmar skin and xerotic fish [checkorphan.org]

• Fever

  If there is fever without nuchal rigidity, the workup can proceed as outlined on page 168. A histamine test may be helpful in diagnosing migraine. [checkorphan.org]

• Photophobia

  The presence and awareness of Photophobia is well known in the medical community, governmental agencies, and many other organizations. [photophobics.org]

  National Center for Advancing Translational Sciences Home Browse by Disease Judge Misch Wright Syndrome Judge Misch Wright Syndrome Other Names: Dry skin, photophobia hyperkeratosis, abnormal fingernails; Keratodermia palmoplantar periorificial; Palmoplantar [rarediseases.info.nih.gov]

  Although mutations in MBTPS2 have additionally been shown to be associated with X-linked recessive OS12, the concomitance of OS-like features in a patient with ichthyosis follicularis atrichia and photophobia (IFAP) syndrome suggests the X-linked OS may [nature.com]

• Visual Impairment

  Involvement of the corneas is common, possibly resulting in visual impairment. [accessanesthesiology.mhmedical.com]

• Visual Impairment

  Involvement of the corneas is common, possibly resulting in visual impairment. [accessanesthesiology.mhmedical.com]

• Hyperkeratosis

  Dermatologic signs are very common: dry skin, palmoplantar hyperkeratosis, abnormal fingernails, and generalized absence of hair. Involvement of the corneas is common, possibly resulting in visual impairment. [accessanesthesiology.mhmedical.com]

  There was neither periorificial hyperkeratosis nor constriction or mutilation of the digits. [jamanetwork.com]

  National Center for Advancing Translational Sciences Home Browse by Disease Judge Misch Wright Syndrome Judge Misch Wright Syndrome Other Names: Dry skin, photophobia hyperkeratosis, abnormal fingernails; Keratodermia palmoplantar periorificial; Palmoplantar [rarediseases.info.nih.gov]

  […] observed Both fingernails and toenails were dystrophic Scalp hairs were sparse, but total alopecia was no present The histopathologic changes of the biopsy from the inner side of the right foot showed nonspecific changes, which mainly showed highly hyperkeratosis [typeset.io]

• Erythema

  […] types and variable… Rosacea is a common, often overlooked, chronic facial dermatosis characterized by intermittent periods of exacerbation and… Rosacea is a chronic facial dermatosis with a progressive course, which is characterized by the presence of erythema [semanticscholar.org]

  […] affecting the entire skin surface –Can present with severe pruritus without much evidence of a rash * Severe xerosis is common in the elderly, and can cause eczema craquelé –Patient's legs often have scale that resembles cracked porcelain –Secondary erythema [checkorphan.org]

  […] slightly whitened fingernails and toenails since birth At the age of 100 days, he progressively developed bilateral palmoplantar keratoderma which resulted in painful walking and disabled grasping Perianal keratotic plaques and perioral hyperkeratotic erythema [typeset.io]

  A remarkable feature was that plantar keratoderma was associated at least since 3 years of age (age at diagnosis) with intense acute flares of severe itching, burning pain, erythema, and warmth in the extremities (hands, feet, and ears) and venous dilatation [jamanetwork.com]

• Dry Skin

  Symptoms * Abnormal fingernails * Sparse eyebrows * Absent eyebrows * Thickened skin on palms * Thickened skin on soles * Light sensitivity * Sparse scalp hair * Absent scalp hair * Impaired vision * Abnormal corneas * Dry skin Causes * Dry skin is a [checkorphan.org]

  Dermatologic signs are very common: dry skin, palmoplantar hyperkeratosis, abnormal fingernails, and generalized absence of hair. Involvement of the corneas is common, possibly resulting in visual impairment. [accessanesthesiology.mhmedical.com]

  National Center for Advancing Translational Sciences Home Browse by Disease Judge Misch Wright Syndrome Judge Misch Wright Syndrome Other Names: Dry skin, photophobia hyperkeratosis, abnormal fingernails; Keratodermia palmoplantar periorificial; Palmoplantar [rarediseases.info.nih.gov]

• Alopecia

  […] palmoplantar keratoderma which resulted in painful walking and disabled grasping Perianal keratotic plaques and perioral hyperkeratotic erythema could also be observed Both fingernails and toenails were dystrophic Scalp hairs were sparse, but total alopecia [typeset.io]

  However, review of the literature reveals that OS encompasses a wide range of clinical manifestations, including variable features such as alopecia, constricting digital bands, or spontaneous digit amputation.2,3 This condition is therefore sometimes [jamanetwork.com]

  In the present research, we recruited an atypical familial case of OS in which patients did not present with periorificial keratoderma and alopecia. [nature.com]

• Pruritus

  Bile acid-sequestering medications can help liver patients with xerosis and pruritus * Topical steroid ointments are sometimes necessary to control the pruritus until the skin barrier function is restored * Compliance is a problem in xerosis patients [checkorphan.org]

  A TR(I)P to pruritus research: role of TRPV3 in inflammation and itch. J Invest Dermatol. 2009;129(3):531-535.PubMedGoogle ScholarCrossref 15. Judge MR, Misch K, Wright P, Harper JI. [jamanetwork.com]

  A TR(I)P to Pruritus Research Role of TRPV3 in Inflammation and Itch. J Invest Dermatol 129, 531–535 (2009). Article CAS Google Scholar Yang, P. & Zhu, M. X. TRPV3. Handb Exp Pharmacol 222, 273–91 (2014). [nature.com]

• Irritability

  […] hair * Impaired vision * Abnormal corneas * Dry skin Causes * Dry skin is a very common problem –Low humidity and cold temperatures make winter xerosis and “winter itch” common complaints –Mild xerosis can cause impaired skin barrier function and allow irritants [checkorphan.org]

  Irritable bowel syndrome and chronic pelvic pain: a population-based study. J Clin Gastroenterol. 2010;44(10):696–701. [link.springer.com]

• Renal Insufficiency

  insufficiency, are commonly associated with xerosis and marked pruritus * Diabetes mellitus * Medications (e.g., niacinamide) * Atopic dermatitis Diagnosis A careful eye examination including tonometry and slit lamp examination should be done. [checkorphan.org]

If there is fever without nuchal rigidity, the workup can proceed as outlined on page 168. A histamine test may be helpful in diagnosing migraine. [checkorphan.org]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

[…] characterized by intermittent periods of exacerbation and… Rosacea is a chronic facial dermatosis with a progressive course, which is characterized by the presence of erythema, papules… BACKGROUND Tacrolimus ointment is increasingly used for anti-inflammatory treatment [semanticscholar.org]

Treatment * Emollients and humectants should be incorporated into the patient's daily routine; Avoid harsh antibacterial soaps, and avoid long, hot baths or showers; Apply rich creams (e.g. [checkorphan.org]

Pachyonychia congenita: treatment of the thickened nails and palmoplantar circumscribed callosities with urea 40 % paste. J Eur Acad Dermatol Venereol. 2006;20(5):615–7. CrossRef PubMed CAS Google Scholar Fonseca E, Pena C, Del Pozo J, et al. [link.springer.com]

Immersion in cold water, use of a fan, and treatment with systemic and topical steroids reduced pain. Her fingernails and toenails were thin and brittle. Her hair was fine, dry, curly, and unmanageable (Figure 1D). [jamanetwork.com]

In this case-control study, a… BACKGROUND Rosacea is a common, chronic facial dermatosis of uncertain etiology, several well-defined types and variable… Rosacea is a common, often overlooked, chronic facial dermatosis characterized by intermittent periods [semanticscholar.org]

Arthroscopy and the dramatic increase in frequency of anterior acromioplasty from 1980 to 2005: an epidemiologic study. Arthroscopy. 2010;26(9 Suppl):S142–7. PubMed Google Scholar [link.springer.com]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

Towards the prevention of acute lung injury: a population based cohort study protocol. BMC Emerg Med. 2010;10:8. CrossRef PubMed Google Scholar Tosh PK, Kennedy RB, Vierkant RA, Jacobson RM, Poland GA. [link.springer.com]

Thus, we further performed experimental validation to functionally assess the effects of mutations in TRPV3, hopefully preventing mistakens due to in silico estimations alone. [nature.com]