13 citations
,
March 2002 in “Pediatric Dermatology” A child was initially wrongly diagnosed with a fungal scalp infection but actually had a non-scarring hair loss condition called Temporal Triangular Alopecia.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
13 citations
,
November 1985 in “International Journal of Dermatology” The study found clear differences in lesion distribution and microscopic features among trichostasis spinulosa, keratosis pilaris, and eruptive vellus hair cysts.
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Hyperthyroidism can hide signs of high androgen levels in females.
2 citations
,
November 2004 in “Blood” RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
May 2025 in “Pediatric Dermatology” Topical and oral minoxidil are the best treatments for monilethrix.
June 2021 in “International journal of research in dermatology” A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
2 citations
,
March 2015 in “Dermatologic Therapy” Using too much minoxidil foam can cause a rare movement disorder with facial twitching, but symptoms go away when the correct dose is used.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
December 2024 in “Pediatrics in Review” Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
8 citations
,
March 2015 in “International Journal of Oncology” Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
3 citations
,
January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
March 2012 in “Journal of The American Academy of Dermatology” Temporal triangular alopecia usually starts in early childhood and treatment with Minoxidil has limited effectiveness.
5 citations
,
May 2017 in “Journal of dermatological science” The combined treatment effectively managed severe skin issues in Olmsted syndrome.
30 citations
,
October 1994 in “Journal of Cutaneous Pathology” Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.
6 citations
,
January 2015 in “Il Giornale di Chirurgia” Hair tourniquet syndrome can cause serious harm if not treated quickly, especially in infants.
18 citations
,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
2 citations
,
March 2011 in “International Journal of Dermatology” An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
September 2023 in “Journal of the American Academy of Dermatology” Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
10 citations
,
February 2022 in “JMIR Dermatology” People with Down syndrome often have skin issues and need regular check-ups for early treatment.
December 2022 in “Biological and Clinical Sciences Research Journal” Early treatment of mixed connective tissue disease is crucial to prevent severe autoimmune conditions.
1 citations
,
January 2022 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Reflectance confocal microscopy may help diagnose trichofolliculoma by showing specific skin features.
18 citations
,
February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
478 citations
,
September 1996 in “Proceedings of the National Academy of Sciences” Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
3 citations
,
September 2016 in “Pediatric Dermatology” Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
17 citations
,
January 1991 in “Acta Dermato Venereologica” A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
January 2025 in “Indian Dermatology Online Journal” Early diagnosis and aggressive treatment are essential for managing Vogt-Koyanagi-Harada syndrome effectively.
5 citations
,
May 2007 in “Pediatric Dermatology” Severe hypothyroidism can cause unusual skin problems that improve with thyroid treatment.