42 citations,
January 2007 in “Pediatric dermatology” Low-potency steroids can cause serious side effects in people with skin conditions like Netherton syndrome.
11 citations,
October 2011 in “Allergologia et immunopathologia” A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
39 citations,
October 2010 in “Journal of The American Academy of Dermatology” Some patients with mycosis fungoides or Sézary syndrome experience hair loss, which may be similar to alopecia areata or linked to skin lesions, possibly due to abnormal T cells, and bexarotene can help treat it.
7 citations,
July 2014 in “BMJ case reports” A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
5 citations,
August 2015 in “British journal of dermatology/British journal of dermatology, Supplement” The top research priorities for congenital ichthyosis include long-term side effects of oral retinoids, best topical treatments, and treatments for itch and hair loss.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
75 citations,
September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
34 citations,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
10 citations,
July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
January 2024 in “JAAD case reports” Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
13 citations,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
1 citations,
November 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Experts met to improve care for ichthyosis patients in Spain.
119 citations,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
24 citations,
April 2008 in “Fertility and sterility” Pioglitazone improved insulin sensitivity and altered cortisol metabolism in PCOS patients.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
November 2022 in “Journal of Investigative Dermatology” Patients with ichthyosis often experience symptoms similar to psoriasis and atopic dermatitis, suggesting that targeted therapies could improve their condition.
31 citations,
January 1981 in “Pharmacology & Therapeutics” Oral retinoids are effective for treating severe skin disorders but have reversible side effects and risks for pregnant women.
Newer retinoid drugs are effective for skin conditions but have significant side effects.
January 2010 in “The Year book of perinatal/neonatal medicine” Early skin biopsy helps diagnose and manage severe skin conditions in babies.
50 citations,
March 2021 in “Journal of investigational allergology & clinical immunology” Dupilumab is being tested for many new skin, respiratory, and gastrointestinal conditions.
25 citations,
July 2013 in “Actas Dermo-Sifiliográficas” Acitretin is effective for severe psoriasis and can be used long-term due to no immunosuppression, but must be carefully monitored for side effects and is not for pregnant women.
15 citations,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
7 citations,
November 2013 in “Pediatric and Developmental Pathology” Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
6 citations,
January 2013 in “IOSR Journal of Dental and Medical Sciences” Most people with hypothyroidism have skin problems like dry skin and hair loss.
April 1963 in “Archives of Dermatology” Dermatological conditions are complex and treatments often have mixed results.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.