August 2025 in “Biomedicines” Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
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.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
28 citations
,
April 1996 in “Cell biology international” Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
January 2025 in “Clinical Dermatology Review” Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
6 citations
,
January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
124 citations
,
January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
January 2010 in “The Year book of perinatal/neonatal medicine” Early skin biopsy helps diagnose and manage severe skin conditions in babies.
147 citations
,
January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
20 citations
,
July 2008 in “Dermatologic Therapy” The document says that treating the root cause of hair follicle damage is crucial to prevent permanent hair loss, and treatment options vary.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
27 citations
,
July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
2 citations
,
April 2024 in “Anais Brasileiros de Dermatologia” Pre-existing skin conditions and drug reactions are the main causes of exfoliative erythroderma.
August 2024 in “International Journal of Women’s Dermatology” Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
3 citations
,
January 2010 in “Elsevier eBooks” The document describes various skin conditions, their features, and treatments but lacks detailed study size information.
1 citations
,
January 2013 in “Elsevier eBooks” The document reviews various hair and nail disorders, their causes, and treatments, emphasizing the need for proper diagnosis and the link between nail changes and systemic diseases.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
January 2026 in “Medicina” JAK inhibitors show promise for treating various skin disorders effectively and safely.
47 citations
,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
42 citations
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January 2007 in “Pediatric dermatology” Low-potency steroids can cause serious side effects in people with skin conditions like Netherton syndrome.