November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
17 citations
,
May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
7 citations
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August 2016 in “Nursing for Women's Health” To prevent and treat Hair-thread tourniquet syndrome in infants, keep a close eye on their limbs, manage maternal hair loss, and educate parents and healthcare providers.
2 citations
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February 2018 in “Journal of dermatology & cosmetology” Triangular temporal alopecia is a benign hair loss pattern best diagnosed with dermoscopy, with limited treatment options like surgery and hair transplantation.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
14 citations
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March 2014 in “Acta anaesthesiologica Taiwanica” A man developed rare complications after nose surgery, stressing the need for better prevention.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
6 citations
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December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
January 2025 in “International Journal of Dermatology” Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.
2 citations
,
March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
September 2024 in “International Journal of Contemporary Pediatrics” A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
8 citations
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June 2016 in “Journal of Pediatric Orthopaedics B” Washing baby socks without flipping them inside out may increase the risk of Hair Tourniquet Syndrome.
January 2026 in “Pakistan journal of urology.” Awareness of Penile Thread Tourniquet Syndrome is crucial for preventing severe complications in children.
Traumatic anserine folliculosis is a harmless skin condition in young males that needs correct diagnosis to avoid unnecessary treatments.
39 citations
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May 2011 in “Movement Disorders” Finasteride may help reduce symptoms in male Tourette syndrome patients.
5 citations
,
November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
1 citations
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August 2011 in “Dermatology Reports” Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
13 citations
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October 2003 in “Clinical pediatrics” Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
21 citations
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January 2000 in “Fetal Diagnosis and Therapy” Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
December 2005 in “Belarusian State Pedagogical University repository (Belarusian State Pedagogical University)” Hair tourniquet syndrome can cause serious harm and may indicate child abuse.
1 citations
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September 2024 in “Indian Journal of Postgraduate Dermatology” Trichoscopy effectively diagnoses temporal triangular alopecia in children.
March 2016 in “Cairn.info” Unexplained infant crying might be due to hair tourniquet syndrome, which needs quick attention and checking for possible abuse.
5 citations
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October 2018 in “Dermatologic therapy” Recognizing congenital triangular alopecia is crucial to avoid unnecessary treatments.
17 citations
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August 2019 in “Archives of Cardiovascular Diseases” Low testosterone in men is a risk factor for a specific heart rhythm issue, and testosterone treatment may help prevent it.