13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
2 citations
,
December 2018 Alopecia frontal fibrosante affects facial vellus hair and can be diagnosed with dermatoscopy.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
January 2015 in “Nasza Dermatologia Online” Monilethrix causes fragile, patchy hair loss.
January 2024 in “Pediatric Dermatology” Minoxidil improved hair growth in a child with a rare genetic disorder.
54 citations
,
November 1995 in “The Journal of Clinical Endocrinology & Metabolism” Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
January 2025 in “Figshare” Stress can cause sudden hair whitening in children, but it may reverse on its own.
2 citations
,
July 2021 in “The Journal of Sexual Medicine” Gene expression differences in PFS patients suggest a potential organic cause for symptoms.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
3 citations
,
July 2015 in “International Journal of School Health” The most common PCOS type in adolescents is hyperandrogenic with polycystic ovaries.
January 2025 in “Figshare” Stress can cause sudden hair whitening in children, but it may reverse on its own.
November 2024 in “Dermatology and Therapy” Dermatologists should carefully choose treatments for FFA to avoid worsening the condition.
March 2025 in “Forum Dermatologicum” Trichoscopy is crucial for accurately diagnosing fibrosing alopecia in pattern distribution.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
1 citations
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
1 citations
,
September 2011 in “Journal of the American Geriatrics Society” A potential genetic link between Werner syndrome and kidney disease was suggested.
6 citations
,
January 2011 in “European Journal of Dermatology” It's important to consider genetic hair disorders when diagnosing hair loss.
14 citations
,
January 2006 in “Australasian journal of dermatology” Alopecia areata can look like frontal fibrosing alopecia, making diagnosis hard.
20 citations
,
January 1997 in “Dermatology” The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
24 citations
,
July 2017 in “Structure” FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.
2 citations
,
January 2018 in “International Journal of Trichology” Two sisters had a rare hair condition without other usual symptoms.
6 citations
,
May 2012 in “Pediatric Dermatology” Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
4 citations
,
December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
October 2019 in “Journal of Evolution of Medical and Dental Sciences” A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.
1 citations
,
April 2020 in “medRxiv (Cold Spring Harbor Laboratory)” The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
29 citations
,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
May 2012 in “Research and reports in neonatology” The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
30 citations
,
February 2015 in “Anais Brasileiros de Dermatologia” Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.