305 citations
,
December 2000 in “The EMBO Journal” Inhibiting Bmp signaling disrupts hair growth and differentiation.
15 citations
,
May 2010 in “Pediatrics in Review” Delayed puberty often runs in families, can affect growth, and may need hormone treatment.
15 citations
,
September 1999 in “British Journal of Dermatology” Epimorphin, a protein, plays a key role in the development of hair follicles in human fetuses, but it doesn't help in maintaining the stem cell population of the follicular skin layer.
December 2024 in “Pediatrics in Review” Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
30 citations
,
October 2014 in “PLOS ONE” BAF200 is essential for proper heart and coronary artery formation.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
10 citations
,
June 1999 in “Veterinary Dermatology” Two cows had a rare hair disorder causing hair loss but were otherwise healthy.
May 2025 in “Indian Dermatology Online Journal” Trichoscopy is crucial for diagnosing rare genetic hair disorders.
3 citations
,
March 2013 in “American Journal of Dermatopathology” Ossification in trichilemmal cysts is more common than previously believed.
November 2022 in “Journal of the Endocrine Society” An 8-year-old boy's early puberty was caused by a rare hormone-secreting brain tumor, which was successfully treated with surgery.
63 citations
,
April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Mutations in keratin genes cause skin, hair, and nail disorders, with future treatments possible.
28 citations
,
December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
14 citations
,
March 2016 in “Mechanisms of Development” Basonuclin 2 is vital for the development of facial bones, hair follicles, and male germ cells in adult mice, and its absence can lead to dwarfism and abnormal follicles.
10 citations
,
August 2010 in “Hereditas (Beijing)” Hoxc13 is essential for hair growth and follicle development.
July 2018 in “Nasza Dermatologia Online” Frontal fibrosing alopecia and ulerythema ophryogenes may be related and can evolve from one to the other.
2 citations
,
January 1981 October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
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.
6 citations
,
August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
11 citations
,
March 2004 in “Journal of Comparative Pathology” Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
9 citations
,
January 2011 in “American Journal of Dermatopathology” Pilomatrixoma involves abnormal hair keratin production and cell death, causing debris and cysts.
19 citations
,
October 1996 in “International Journal of Dermatology” Pseudopelade is a rare inherited hair loss condition with a genetic cause.
1 citations
,
August 1988 in “Journal of The American Academy of Dermatology” Hair transplantation between identical twins can successfully treat severe, nonprogressive hair loss due to follicular aplasia.
December 2023 in “University of Southern Denmark Research Portal (University of Southern Denmark)” Digital access to medical info can help identify rare conditions.
5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
28 citations
,
July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.