1 citations
,
June 2015 in “Australasian Journal of Dermatology” A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
5 citations
,
May 2017 in “Journal of dermatological science” The combined treatment effectively managed severe skin issues in Olmsted syndrome.
2 citations
,
August 2017 in “British Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
1 citations
,
January 2020 in “Skin appendage disorders” A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
1 citations
,
March 2023 in “Medicine” Satoyoshi syndrome can cause eye problems like uveitis and retinal vein issues.
January 2025 in “Case Reports in Oncological Medicine” Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
May 2009 in “South African Family Practice” The author believes that giving medical conditions official names can sometimes overwhelm or scare patients.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
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.
28 citations
,
June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
15 citations
,
April 1997 in “Muscle & Nerve” 5 citations
,
April 1997 in “Muscle & Nerve”
7 citations
,
August 2008 in “Cases Journal” A hair tightly wrapped around a toddler's toe caused severe crying and was treated by surgery.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
4 citations
,
October 2012 in “Archives of Dermatology” Hair diameter diversity is a key sign for diagnosing and managing male pattern baldness.
January 2012 in “International Journal of Trichology” Two siblings have a rare genetic condition causing curly, coarse hair.
12 citations
,
October 2016 in “Anais Brasileiros de Dermatologia” Frontal Fibrosing Alopecia may be linked to autoimmune diseases like Sjögren's syndrome.
1 citations
,
January 2019 in “Via Medica Journals” Graham-Little syndrome causes hair loss and skin bumps, with difficult treatment options.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
October 2023 in “BMJ Case Reports” Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
October 2025 in “Journal of the Endocrine Society” Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
3 citations
,
December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
13 citations
,
September 1997 in “Archives of Dermatology” The boy likely has a fungal infection causing hair loss.
December 2020 in “Skin appendage disorders” A young man with an unusual type of scarring hair loss suggests a possible new variant of a known scalp condition.
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.
10 citations
,
January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.