26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
October 2025 in “Journal of the Endocrine Society” A rare ovarian tumor was found in a young woman with a genetic fat disorder.
Traumatic anserine folliculosis is a harmless skin condition in young males that needs correct diagnosis to avoid unnecessary treatments.
26 citations
,
September 1990 in “Ophthalmology” The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
8 citations
,
May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” The hair defect is due to abnormal inner root sheath keratinization.
November 2017 in “International journal of research in dermatology” A rare skin disorder, nevus comedonicus, can appear on one side of the body following Blaschko's lines.
101 citations
,
July 1985 in “Journal of the American Academy of Dermatology” Biotin improved hair growth and combability in one child with uncombable hair syndrome.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
10 citations
,
January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
28 citations
,
June 2021 in “Frontiers in immunology” A protein called lfTSLP is important in causing allergic and other skin diseases and could be a target for treatment.
January 2003 in “Linchuang pifuke zazhi” A benign skin tumor was removed from a man's leg, and it didn't come back after 9 months.
33 citations
,
December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
January 2025 in “International Journal of Trichology” Trichotillomania can occur in unusual patterns and sites, highlighting the need for awareness and treatment options.
26 citations
,
August 2014 in “Genetic Testing and Molecular Biomarkers” High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
15 citations
,
August 2010 in “Annals of saudi medicine/Annals of Saudi medicine” Hair tourniquet syndrome is a rare condition where hair wraps around an infant's body part, needing quick removal to prevent damage.
10 citations
,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
November 2022 in “American Journal of Clinical Pathology” TURP specimens should be checked for various tumors, not just common prostate issues.
1 citations
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
August 2023 in “Rheumatology” Early referral to a pediatric rheumatologist and thorough evaluation are crucial for treating complex overlap syndromes effectively.
January 2022 in “Clinical dermatology review” A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
21 citations
,
July 2005 in “European Journal of Emergency Medicine” Hair-tourniquet syndrome can cause serious toe injuries in infants but can be treated if found early.
A six-year-old girl with extra hair on her elbows was treated with hair removal methods.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
1 citations
,
May 2026 in “Nature Communications” CD19-CAR T cell therapy may help regenerate skin in systemic sclerosis.
January 2025 in “Genetics in Medicine Open” A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
1 citations
,
July 2024 in “Journal of Investigative Dermatology” TAK-279 effectively reduces psoriasis symptoms and is safe.
9 citations
,
January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
April 2025 in “Indian Journal of Paediatric Dermatology” Trichorrhexis invaginata can occur with tinea capitis, though it's rare.
1 citations
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July 2004 in “The Journal of Dermatology” Generalized hair follicle hamartoma can occur with systemic lupus erythematosus.