5 citations,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
The document concludes that the girl's hairlessness is likely inherited from her parents.
33 citations,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
10 citations,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
49 citations,
January 2013 in “Dermatologic Therapy” Newborns with ichthyosis need specific care based on their skin type.
7 citations,
January 2013 in “Indian dermatology online journal” A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
1 citations,
February 2017 in “International journal of anatomy and research” Understanding fetal skin development helps diagnose congenital skin diseases.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
27 citations,
February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
8 citations,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
1 citations,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
9 citations,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
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.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
February 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
44 citations,
January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
30 citations,
May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
24 citations,
January 2015 in “Current problems in dermatology” The document concludes that accurate diagnosis of hair loss in children is crucial due to limited treatment options and the condition's psychological impact.
23 citations,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
23 citations,
November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
12 citations,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
10 citations,
December 2015 in “Clinics in Dermatology” Diabetes can lead to blindness and skin problems, and managing blood sugar and blood pressure is crucial to prevent these complications.
7 citations,
November 2000 in “Clinics in Dermatology” Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
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.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
January 2016 in “SpringerBriefs in bioengineering” Genetic defects and UV radiation cause skin damage and aging.
September 2003 in “Current Paediatrics” The document concludes that accurate diagnosis and understanding the type of hair disorder are crucial for treating hair loss in children.
74 citations,
March 1963 in “Archives of Dermatology” Triparanol therapy can cause hair loss and skin dryness without inflammation or damage to hair follicles or skin structures.
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.