11 citations
,
October 2021 in “Orphanet journal of rare diseases” Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
11 citations
,
January 2018 in “DOAJ (DOAJ: Directory of Open Access Journals)” A 4-year-old boy with a rare type of rickets and hair loss improved in bone health but not hair growth after vitamin D and calcium treatment.
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.
7 citations
,
January 1990 6 citations
,
July 2005 in “Acta Ophthalmologica Scandinavica” Mitochondriopathy may cause eyelash loss.
5 citations
,
June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
4 citations
,
December 2022 in “International Journal of Molecular Sciences” Zinc is crucial for skin health and treating various skin disorders.
3 citations
,
May 2024 in “International Journal of Dermatology” Pediatric pemphigus is often diagnosed late, but rituximab helps control it long-term.
3 citations
,
November 2021 in “Applied Microscopy” Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
3 citations
,
April 2020 in “Clinical endocrinology and metabolism journal” Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
3 citations
,
September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
2 citations
,
November 2024 in “PLoS ONE” Genomic prediction can improve breeding strategies for Korean Sapsaree dogs.
2 citations
,
July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.
2 citations
,
April 2021 in “PLoS ONE” Rural Bangladeshi girls mature later than peers in other low and middle-income countries due to poor nutrition and socioeconomic conditions.
1 citations
,
July 2025 in “Frontiers in Veterinary Science” Tibetan sheep have specific genes for high-altitude adaptation and wool traits, aiding breeding strategies.
1 citations
,
January 2025 in “JAAD reviews.” Hypertrichosis involves excessive hair growth and needs careful diagnosis and treatment, considering its psychological effects.
1 citations
,
September 2023 in “International Journal of Women’s Dermatology” Dermatologists are crucial in providing personalized care for patients with sex development differences.
1 citations
,
May 2023 in “Frontiers in Endocrinology” Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
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.
1 citations
,
November 2021 in “Translational pediatrics” Glucocorticoids for progressive muscular dystrophy in children don't improve muscle strength or function but do increase certain side effects.
1 citations
,
February 2017 in “Journal of gynecology and womens health” The document concluded that more research is needed to understand how estrogen affects the enzyme involved in hirsutism development.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
January 2026 in “Immunological Reviews” Females generally have stronger immune responses than males due to the X chromosome.
May 2025 in “Clinical Medicine Insights Case Reports” Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
Celiac disease requires more than just a gluten-free diet for effective management.
June 2024 in “Dermatology and therapy” Low-dose oral minoxidil is safe for treating children's hair disorders.
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.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.