13 citations
,
June 2006 in “Fertility and Sterility” Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
20 citations
,
August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
2 citations
,
January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
30 citations
,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
16 citations
,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
2 citations
,
July 2013 in “Journal of Life Sciences” A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
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.
151 citations
,
December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
November 2009 in “Journal of Pediatric Nursing” Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
48 citations
,
July 1988 in “PubMed” Rhino mice show significant meibomian gland changes, making them a potential model for studying gland disorders.
9 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
2 citations
,
March 2012 in “JAMA” Early surgery reduces seizure risk in drug-resistant epilepsy; testosterone to DHT conversion doesn't affect muscle anabolism; veterans with PTSD likely to have riskier opioid use; bevacizumab helps in hereditary bleeding disorder.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
16 citations
,
January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
21 citations
,
September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
1 citations
,
July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
August 2021 in “Journal of medical science and clinical research” An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
8 citations
,
January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
5 citations
,
July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
January 2024 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
April 2012 in “Journal of evolution of medical and dental sciences” No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
41 citations
,
December 2008 in “Pediatric Dermatology” Trichoscopy can diagnose Netherton syndrome without pulling hairs.
1 citations
,
July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
1 citations
,
February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
June 2026 in “Quality in Sport” CAH requires a multidisciplinary approach, and while current treatments help, future therapies show promise.