32 citations,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
9 citations,
January 2005 in “Pediatric Dermatology” Fox Fordyce disease can occur in prepubertal girls and may be underdiagnosed.
16 citations,
January 2005 in “Pediatric Dermatology” A 10-year-old girl with Fox Fordyce disease improved with treatment, suggesting the disease can occur before puberty and might be underdiagnosed in young girls.
25 citations,
January 2005 in “Pediatric Dermatology” Methotrexate effectively treated a 2-year-old's generalized pustular psoriasis without side effects.
18 citations,
January 2020 in “Journal of the European Academy of Dermatology and Venereology” High-potency steroids or tacrolimus are effective treatments for Erosive Pustular Dermatosis of the Scalp.
12 citations,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
29 citations,
June 2020 in “International Journal of Molecular Sciences” Notch signaling disruptions can cause various skin diseases.
2 citations,
January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
480 citations,
August 2014 in “Nature Biotechnology” Changing the environment around stem cells could help tissue repair, but it's hard to be precise and avoid side effects.
69 citations,
January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
July 2018 in “Elsevier eBooks” The most common cause of hair loss in children is tinea capitis, followed by alopecia areata and telogen effluvium.
51 citations,
July 2008 in “Dermatologic Therapy” The document concludes that surgery is a preferred treatment for cicatricial alopecia, with the method chosen based on individual factors and may require multiple sessions and careful postoperative care.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
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.
2 citations,
February 2018 in “Journal of dermatology & cosmetology” Triangular temporal alopecia is a benign hair loss pattern best diagnosed with dermoscopy, with limited treatment options like surgery and hair transplantation.
56 citations,
March 2010 in “Journal of Dermatology” Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
36 citations,
June 2018 in “Journal of The American Academy of Dermatology” Dermoscopy is useful for diagnosing various skin, hair, and nail disorders and can reduce the need for biopsies.
1 citations,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
43 citations,
August 2013 in “Pediatric Dermatology” Trichoscopy is good for diagnosing and monitoring hair and scalp problems in children but needs more research for certain conditions.
245 citations,
March 2012 in “Journal of The American Academy of Dermatology” Dermatoscopy is useful for identifying different hair and scalp conditions and can reduce the need for biopsies.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
38 citations,
October 2006 in “Fertility and Sterility” The document concludes that identifying the cause of amenorrhea is crucial for proper treatment.
21 citations,
September 2004 in “Fertility and Sterility” Amenorrhea, or the absence of periods, should be evaluated by age 15 or within five years of early breast development, and is most commonly caused by conditions like polycystic ovary syndrome and hypothalamic amenorrhea.
30 citations,
July 2004 in “Fertility and Sterility” Amenorrhea is when a woman doesn't have periods, with primary amenorrhea starting by age 15 or within five years of breast development, and secondary amenorrhea when periods stop for three months. It affects 3-4% of women not pregnant, breastfeeding, or in menopause, mainly due to polycystic ovary syndrome, hypothalamic amenorrhea, hyperprolactinemia, and ovarian failure.
January 2022 in “Дерматологія та венерологія” Frontal fibrosing alopecia causes hair loss along the frontal hairline, mainly in postmenopausal women, and needs better treatments.
13 citations,
March 2016 in “Journal of Cutaneous Pathology” Some people's hair loss is caused by multiple factors, with the most common being a mix of AGA and CCCA.
6 citations,
January 2019 in “Indian Journal of Dermatology” About 12% of children in Kota, Rajasthan, experience hair loss, mainly due to fungal infections, with early treatment advised to prevent worsening.
May 2017 in “American Society of Health-System Pharmacists eBooks”